Conference Agenda

Mitochondrial disease: past successes and future challenges

Doug Turnbull

Newcastle University, United Kingdom

The role of mtDNA variation in common and rare diseases

Patrick F. Chinnery

Cambridge-UK, United Kingdom

How mtDNA can talk with the complex landscape of nuclear encoded OXPHOS information?

José Antonio Enriquez

Spanish National Center for Cardiovascular Research (CNIC)

Understanding the pathophysiological mechanisms of mitochondrial diseases with MITOMICS through an integrated multi-OMICS approach of Mitomatcher, the French mitochondrial disease database

Sylvie Bannwarth¹, Alexandrina Bodrug², Céline Bris², MitoDiag Network³, Stéphane Tirard⁴, Silvia Bottini⁵, Marie Deprez⁷, Magalie Barth², Patrizia Bonneau², Pascal Reynier², Dominique Bonneau², Justine Labory⁵, Cécile Rouzier¹, Annabelle Chaussenot¹, Samira Ait-El-Mkadem-Saadi¹, Shahram Attarian⁶, Marco Lorenzi⁷, Véronique Paquis-Flucklinger¹, Anthony Brooks⁸, Vincent Procaccio²

1: Université Côte d’Azur, INSERM U1081, CNRS UMR7284, IRCAN, CHU de Nice, Nice, France; 2: Département de Génétique, UMR CNRS 6015 INSERM 1083, CHU et Université d’Angers, Angers, France; 3: Réseau français des laboratoires de diagnostic pour les maladies mitochondriales (Bordeaux, Caen, Grenoble, Lille, Lyon, Le Kremlin-Bicêtre, Pitié Salpêtrière, Necker Enfants Malades, Reims), Centres de référence pour les maladies mitochondriales (CALISSON, CARAMMEL), France; 4: Université de Nantes, Nantes, France; 5: Université Côte d’Azur, MDLab, Nice, France; 6: Filière FILNEMUS, CHU La Timone, Marseille, France; 7: INRIA, Equipe EPIONE, Nice, France; 8: University of Leicester, Dept.Genetics, UK

Generating a complete human panmitogenome

Giulio Formenti¹, Alessandro Achilli², Hansi Weissensteiner³, Anna Olivieri², Andrea Guarracino⁴, Walther Parson^5,8, Nicola Rambaldi Migliore², Martin Bodner³, Valerio Carelli⁶, Leonardo Caporali⁶, Claudio Fiorini⁷, Danara Ormanbekova⁷, Erik Garrison⁴, Nicole Huber³

1: The Rockefeller University, United States of America; 2: Department of Biology and Biotechnology “L. Spallanzani”, University of Pavia, 27100 Pavia, Italy; 3: Medical University of Innsbruck, 6020 Innsbruck, Austria; 4: Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN 38163, USA; 5: Medical University of Innsbruck, 6020 Innsbruck, Austria; 6: Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, 40139 Bologna, Italy; 7: IRCCS Institute of Neurological Sciences of Bologna; 8: Forensic Science Program, The Pennsylvania State University, University Park, PA, USA

Negative selection of mitochondrial DNA mutations in the blood

Imogen Grace Franklin^1,5, Paul Milne^2,5, Jordan Childs¹, Isabel Barrow^1,3, Róisín M Boggan¹, Andrew M Schaefer^1,3, Catherine Feeney^1,3, Rhys H Thomas^1,3, Gráinne S Gorman^1,3, Conor Lawless¹, Yi Shiau Ng^1,3, Matthew Collin^2,4, Oliver M Russell^1,4, Sarah J Pickett^1,4

1: Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle-upon-Tyne; 2: The Human Dendritic Cell Lab, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne; 3: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne; 4: Equal Contributions; 5: Equal Contributions

Parsing universal heteroplasmy in a large maternal lineage carrying the common LHON variant m.11778G>A/MT-ND4

Danara Ormanbekova¹, Claudio Fiorini¹, Leonardo Caporali², Alberto Pasti¹, Chiara Giannuzzi², Francesco Musacchia³, Diego Vozzi³, Milton N Moraes-Filho⁴, Solange R Salomao⁵, Adriana Berezovsky⁵, Alfredo A Sadun⁶, Stefano Gustincich³, Patrick F Chinnery⁷, Valerio Carelli^1,2

1: Azienda USL di Bologna - IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy; 2: Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; 3: Istituto Italiano di Tecnologia – IIT, Genova, Italy; 4: Instituto de Olhos de Colatina, Colatina, Espírito Santo, Brazil; 5: Departamento de Oftalmologia e Ciências Visuais, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, São Paulo, Brazil; 6: Doheny Eye Institute, Los Angeles, CA, USA; Department of Ophthalmology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA; 7: Medical Research Council Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK

PNPLA3, MBOAT7 and TM6SF2 modify mitochondrial dynamics in NAFLD patients: dissecting the role of cell-free circulating mtDNA and copy number

Miriam Longo¹, Erika Paolini^1,2, Marica Meroni¹, Michela Ripolone¹, Laura Napoli¹, Giada Tria¹, Marco Maggioni¹, Maurizio Maggio¹, Anna Ludovica Fracanzani^1,3, Paola Dongiovanni¹

1: Fondazione IRCCS Cà Granda Ospedale Policlinico, Italy; 2: Department of Pharmacological and Biomolecular Sciences, Università degli Studi di Milano, Italy; 3: Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Italy

Initiation of mitochondrial DNA replication in mammalian cells.

Maria Falkenberg

Gothenburg University, Sweden

Regulation of mitochondrial gene expression in disease

Aleksandra Filipovska

University of Western Australia, Australia

Mitochondrial translation termination at non-canonical stop codons

Annika Krüger¹, Cristina Remes², Dmitrii Igorevich Shiriaev¹, Yong Liu¹, Henrik Spåhr¹, Rolf Wibom¹, Ilian Atanassov³, Minh Duc Nguyen¹, Barry S. Cooperman², Joanna Rorbach^1,3

1: Karolinska Institutet, Stockholm, Sweden; 2: University of Pennsylvania, Pennsylvania, USA; 3: Max-Planck-Institute for Biology of Ageing, Cologne, Germany

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability

Direnis Erdinc¹, Alejandro Rodríguez-Luis^2,3, Mahmoud R. Fassad^2,4, Sarah Mackenzie⁵, Christopher M. Watson^6,7, Sebastian Valenzuela¹, Xie Xie¹, Katja E. Menger^2,3, Kate Sergeant⁸, Kate Craig^2,9, Sila Hopton^2,9, Gavin Falkous^2,9, Joanna Poulton¹⁰, Hector Garcia-Moreno¹¹, Paola Giunti¹¹, Carlos A. de Moura Aschoff¹², Jonas A. Morales Saute^12,13,14, Amelia J. Kirby¹⁵, Camilo Toro¹⁶, Lynne Wolfe¹⁶, Danica Novacic¹⁶, Lior Greenbaum^17,18,19, Aviva Eliyahu^17,19, Ortal Barel²⁰, Yair Anikster^19,21, Robert McFarland^2,4, Gráinne S. Gorman^2,4, Andrew M. Schaefer^2,9, Claes M. Gustafsson^1,22, Robert W. Taylor^2,4,9, Maria Falkenberg¹, Thomas J Nicholls¹

1: Department of Medical Biochemistry and Cell Biology, University of Gothenburg, P.O. Box 440, SE-405 30 Gothenburg, Sweden; 2: Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; 3: Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; 4: Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; 5: The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; 6: North East and Yorkshire Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, UK; 7: Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK; 8: Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; 9: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK; 10: Nuffield Department of Women’s & Reproductive Health, The Women's Centre, University of Oxford, Oxford, UK; 11: Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK; 12: Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil; 13: Department of Internal Medicine, Universidade Federal do Rio Grande do Sul - Porto Alegre, Brazil; 14: Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul - Porto Alegre, Brazil; 15: Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC 27101, USA; 16: Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA; 17: The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel; 18: The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Israel; 19: The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; 20: Genomics Unit, The Center for Cancer Research, Sheba Medical Center, Israel; 21: Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel; 22: Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden

The role of replicative exonucleases in mitochondrial DNA replication and degradation

Christian D Gonzalez, Nadee Nissanka, Carlos T Moraes

University of Miami Miller School of Medicine, United States of America

Processing of mitochondrial RNA in health and disease: the role of FASTKD5.

Hana Antonicka¹, James B. Gibson², Eric A. Shoubridge¹

1: The Neuro & McGill University, Montreal, Quebec, Canada; 2: Dell School of Medicine, University of Texas at Austin, Austin, TX, USA

Mechanisms of mtDNA maintenance and segregation in the female germline

Laura Kremer¹, Lyuba Bozhilova^2,3, Diana Rubalcava-Garcia¹, Roberta Filograna¹, Mamta Upadhyay¹, Camilla Koolmeister¹, Patrick Chinnery^2,3, Nils-Göran Larsson¹

1: Karolinska Institutet, Stockholm, Sweden; 2: MRC Mitochondrial Biology Unit, Cambridge, United Kingdom; 3: Department of Clinical Neurosciences, University of Cambridge, United Kingdom

The human Mitochondrial mRNA Structurome reveals Mechanisms of Gene Expression in Physiology and Pathology

Antoni Barrientos¹, Conor Moran¹, Amir Brivanlou², Flavia Fontanesi¹, Silvi Rouskin²

1: University of Miami, United States of America; 2: Harvard Medical School, United States of America

The role of mitochondria in neuromuscular diseases

Rita Horvath

Cambridge-UK, United Kingdom

Innovative approaches for the molecular diagnosis of mitochondrial disorders

Holger Prokisch

Technical University Munich Institute of Human Genetics

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

William L Macken^1,2, Micol Falabella¹, Caroline McKittrick¹, Chiara Pizzamiglio^1,2, Rebecca Ellmers³, Kelly Eggleton³, Cathy E. Woodward^2,3, Yogen Patel^2,3, Robyn Labrum^2,3, Genomics England Research Consortium⁹, Rahul Phadke⁴, Mary M. Reilly¹, Catherine DeVille⁵, Anna Sarkozy⁴, Emma Footitt⁶, James Davison^6,7, Shamima Rahman^6,8, Henry Houlden¹, Enrico Bugiardini^1,2, Rosaline Quinlivan^1,2,4, Michael G. Hanna^1,2, Jana Vandrovcova¹, Robert D.S. Pitceathly^1,2

1: Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK; 2: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK; 3: Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK; 4: Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; 5: Department of Neurosciences, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; 6: Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; 7: National Institute for Health and Care Research Great Ormond Street Hospital Biomedical Research Centre, London, UK; 8: Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK; 9: Genomics England, One Canada Square London, UK

Biallelic variants in MCAT in an infant with lactic acidosis, lipoylation disorder, and early death

Melanie T. Achleitner¹, Maja Hempel^2,3, Konstantinos Tsiakas⁴, René G. Feichtinger¹, Saskia B. Wortmann^1,5, René Santer⁴, Johannes A. Mayr¹

1: University Children's Hospital, Paracelsus Medical University, Salzburg, Austria; 2: Institute of Human Genetics, University Medical Center Eppendorf, Hamburg, Germany; 3: Current address: Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany; 4: Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany; 5: Amalia Children’s Hospital, Radboudumc, Nijmegen, The Netherlands.

Biallelic PTPMT1 variants impair cardiolipin metabolism and cause mitochondrial myopathy and developmental regression

Micol Falabella¹, Chiara Pizzamiglio^1,2, Luis Carlos Tabara³, Ece Sonmezler⁴, Benjamin Munro⁵, William L. Macken^1,2, Shanti Lu¹, Lisa Tilokani³, Padraig J. Flannery^6,7, Nina Patel^7,8, Simon A. S. Pope^7,8, Simon J. R. Heales^7,8, Jana Vandrovcova¹, Henry Houlden¹, Robert W. Taylor⁹, Cathy E. Woodward⁶, Robyn Labrum⁶, Genomics England Research Consortium¹⁰, Semra Hiz¹¹, Maha S. Zaki¹², Efstathia Chronopoulou¹³, Germaine Pierre¹³, Reza Maroofian¹, Michael G. Hanna^1,2, Yavuz Oktay^4,14,15, Rita Horvath⁵, Julien Prudent³, Robert D. S. Pitceathly^1,2

1: Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK; 2: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK; 3: Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge UK; 4: Izmir International Biomedicine and Genome Institute, Dokuz Eylül University, Izmir, Turkey; 5: Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; 6: Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK; 7: Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK; 8: Neurometabolic Unit, The National Hospital for Neurology and Neurosurgery, London, UK; 9: Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle University, Newcastle upon Tyne, UK; 10: Genomics England, London, UK; 11: Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey; 12: Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt; 13: Department of Inherited Metabolic Disease, Division of Women's and Children's Services, University Hospitals Bristol NHS Foundation Trust, Bristol, UK; 14: Izmir Biomedicine and Genome Center, Izmir, Turkey; 15: Department of Medical Biology, Faculty of Medicine, Dokuz Eylül University, Izmir Turkey

Heterozygous missense variants in NUTF2 (nuclear transport factor 2) gene, mapping at the OPA8 locus, cause Dominant Optic Atrophy

Agnese Macaluso¹, Alessandra Maresca¹, Concetta Valentina Tropeano¹, Maria Antonietta Capristo¹, Flavia Palombo¹, Leonardo Caporali¹, Claudio Fiorini¹, Danara Ormanbekova¹, Chiara La Morgia¹, Piero Barboni^2,3, Cristina Villaverde^4,5, Carmen Ayuso^4,5, Maria Esther Gallardo^6,5, Majida Charif⁷, Sylvie Gerber⁸, Patrizia Amati-Bonneau⁷, Guy Lanaers^7,9, Jean-Michel Rozet⁷, Bernd Wissinger¹⁰, Valerio Carelli^1,11, Valentina Del Dotto¹¹

1: IRCCS - Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica - Bologna (Italy); 2: Studio Oculistico d'Azeglio - Bologna (Italy); 3: Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele - Milano (Italy); 4: Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM) - Madrid (Spain); 5: Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII - Madrid (Spain); 6: Grupo de investigación traslacional con células iPS, Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12), Madrid, Spain; Centro de Investigación Biomédica en Red (CIBERER) - Madrid (Spain); 7: Université d’Angers, MitoLab team, UMR CNRS 6015 - INSERM U1083, Unité MitoVasc - Angers (France); 8: Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University - Paris (France); 9: Departments of Biochemistry and Genetics, University Hospital Angers - Angers (France); 10: Molecular Genetics Laboratory, Institute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany; 11: Depart. of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna - Bologna (Italy)

Southern African paediatric patients with King Denborough syndrome are exclusively associated with an autosomal recessive STAC3 variant: is this a highly prevalent secondary mitochondrial disease in this African population?

Francois Hendrikus van der Westhuizen¹, Maryke Schoonen¹, Michelle Bisschoff¹, Ronel Human², Elsa Lubbe², Malebo Nonyane², Armand Vorster¹, Karin Terburgh¹, Robert McFarland³, Robert Taylor³, Mahmoud Fassad³, Krutik Patel³, Wilson Lindsay⁴, Michael Hanna⁴, Jana Vandrovcova⁴, The ICGNMD Consortium⁵, Izelle Smuts²

1: Human Metabolomics, North-West University, Potchefstroom, South Africa; 2: Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa; 3: Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; 4: Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; 5: https://www.ucl.ac.uk/genomic-medicine-neuromuscular-diseases/global-contributor-list

AK3, adenylate kinase isozyme 3, is a new gene associated with PEO and multiple mtDNA deletions

Alessia Nasca¹, Andrea Legati¹, Teresa Ciavattini¹, Nadia Zanetti¹, Eleonora Lamantea¹, Javier Ramón², Ramon Martí², Maria Antonietta Maioli³, Costanza Lamperti¹, Holger Prokisch^4,5, Daniele Ghezzi^1,6

1: Fondazione IRCCS Istituto Neurologico Besta, Italy; 2: Vall d'Hebron Research Institute, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Autonomous University of Barcelona, Barcelona, Spain; 3: Centro Sclerosi Multipla, P.O. Binaghi, ASL Cagliari, Italy; 4: Technical University of Munich, School of Medicine, Institute of Human Genetics, 81675 Munich, Germany; 5: Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany; 6: Department of Pathophysiology and Transplantation (DEPT), University of Milan, Italy

Guanylate kinase 1 deficiency: a novel and potentially treatable form of mitochondrial DNA depletion/deletions syndrome

Agustin Hidalgo-Gutierrez¹, Jonathan Shintaku¹, Eliana Barriocanal-Casado¹, Russ Saneto², Javier Ramon^4,7, Gloria Garrabou^4,5, Frederic Tort^3,4, Jose Cesar Milisenda⁶, Laura Gort^3,4, Alba Pesini¹, Saba Tadesse¹, Mary-Claire King⁸, Ramon Marti^4,7, Antonia Ribes^3,4, Michio Hirano¹

1: Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA; 2: Seattle Children’s Hospital, Seattle, WA, USA; 3: Section of Inborn Errors of Metabolism-IBC. Department of Biochemistry and Molecular Genetics. Hospital Clinic de Barcelona-IDIBAPS, Barcelona.; 4: Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona; 5: Muscle Research and Mitochondrial Function Lab, Cellex - IDIBAPS. Faculty of Medicine and Health Science - University of Barcelona (UB), Barcelona.; 6: Department of Internal Medicine, Hospital Clínic of Barcelona.; 7: Vall d’Hebron Research Institute, Autonomous University of Barcelona, Barcelona, Spain.; 8: Department of Genome Sciences, University of Washington, Seattle, WA, U.S.A.

Metabolic adaptations of respiratory chain organization and function

Erika Fernandez-Vizarra^1,2

1: Department of Biomedical Sciences, University of Padova, Italy; 2: Veneto Institute of Molecular Medicine, Padova, Italy

Pluripotent stem cells and brain organoids for drug discovery of mitochondrial diseases

Alessandro Prigione

Heinrich Heine University, Düsseldorf, Germany

High-throughput single cell analysis reveals progressive mitochondrial DNA mosaicism developing throughout life

Angelos Glynos^1,2, Lyuba V. Bozhilova^1,2, Michele Frison^1,2, Stephen P. Burr^1,2, James B. Stewart³, Patrick F. Chinnery^1,2

1: Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; 2: Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; 3: Biosciences Institute, Faculty of Medical Sciences, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK

A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy.

Guido Primiano³, Nneka Southwell¹, Viraj Nadkarni¹, Emelie Beattie¹, Maria Lucia Valentino⁴, Valerio Carelli⁴, Serenella Servidei³, Giovanni Manfredi¹, Qiuying Chen², Marilena D'Aurelio¹

1: Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY; 2: Weill Cornell Medicine, Department of Pharmacology, New York, NY; 3: Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy; Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy; 4: IRCCS, Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy; Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy

Succinylation as a novel pathogenic mechanism in a children's mitochondrial brain disease

Pieti Elonkirjo¹, Tuomas Kukkonen¹, Juan Liu², Jason W. Locasale², Sami Jalil¹, Birgit Schilling³, Eric Verdin^3,4, Marco Reidelbach⁵, Outi Haapanen⁵, Vivek Sharma^5,6, Elsebet Oestergaard⁷, Rosalba Carrozzo⁸, Berge Minassian^9,10, Anu Suomalainen¹

1: STEMM, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland; 2: Department of Pharmacology and Cancer Biology, Duke University School of Medicine, Durham, NC, USA; 3: Buck Institute for Research on Aging, Novato, CA 94945, USA; 4: Gladstone Institutes and University of California, San Francisco, CA 94158, USA; 5: Department of Physics, University of Helsinki, Finland; 6: HiLIFE Institute of Biotechnology, University of Helsinki, Finland; 7: Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark; 8: Unit of Cellular Biology and Mitochondrial Diseases, “Bambino Gesù” Children's Hospital, IRCCS, Rome, Italy; 9: Program in Genetics and Genome Biology, The Hospital for Sick Children, Institute of Medical Science University of Toronto, Toronto, Ontario, Canada; 10: Division of Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX, USA

The levels and activation state of the pyruvate dehydrogenase complex modulate the SCAFI-dependent organization of the mitochondrial respiratory chain

Sandra Lopez-Calcerrada¹, Ana Sierra-Magro¹, Erika Fernández-Vizarra², Cristina Ugalde^1,3

1: Instituto de Investigación Hospital 12 de Octubre, Madrid 28041, Spain; 2: Department of Biomedical Sciences, University of Padova, 35131 Padova, Italy; 3: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723, Madrid, Spain

Oxphos deficiency indicates novel functions for the mitochondrial protein import subunit tim50

Jordan J Crameri¹, Catherine S Palmer¹, David Coman², David A Stroud¹, David R Thorburn^3,4,5, Ann E Frazier^3,4, Diana Stojanovski¹

1: Department of Biochemistry and Pharmacology and the Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, 3010, Australia; 2: Queensland Children’s Hospital, Department of Metabolic Medicine, South Brisbane, Brisbane, Queensland, 4001, Australia; 3: Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Victoria, 3052, Australia; 4: Department of Paediatrics, University of Melbourne, Melbourne, Victoria, 3052, Australia; 5: Victorian Clinical Genetics Services, Royal Children’s Hospital, Melbourne, Victoria, 3052, Australia

Microproteins in metabolic regulation

Jiemin Nah¹, Baptiste Kerouanton¹, David Robinson², Kyle Dunlap³, Pooja Sridnivasan¹, Sonia Chothani¹, Greg Ducker³, Owen Rackham⁴, David Stroud², Lena Ho¹

1: Duke-NUS Medical School, Singapore; 2: University of Melbourne, Australia; 3: University of Utah, USA; 4: University of Southampton, UK

Recessive MECR pathogenic variants cause a LHON-like optic neuropathy

Claudio Fiorini¹, Andrea Degiorgi², Maria Lucia Cascavilla³, Concetta Valentina Tropeano¹, Chiara La Morgia^1,4, Marco Battista³, Danara Ormanbekova¹, Flavia Palombo¹, Michele Carbonelli⁴, Francesco Bandello³, Valerio Carelli^1,4, Alessandra Maresca¹, Piero Barboni³, Enrico Baruffini², Leonardo Caporali⁴

1: IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy; 2: Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy; 3: Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele, Milan, Italy; 4: Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Italy

Variants in ATP5F1B are associated with dominantly inherited dystonia

Alessia Nasca¹, Niccolò Mencacci², Federica Invernizzi¹, Michael Zech³, Andrea Legati¹, Giovanna Zorzi¹, Holger Prokisch³, Steven Lubbe², Barbara Garavaglia¹, Daniele Ghezzi^1,4

1: Fondazione IRCCS Istituto Neurologico Besta, Milan, Italy; 2: Northwestern University, Feinberg School of Medicine, Chicago, USA; 3: Helmholtz Zentrum München, Technical University of Munich, Munich, Germany; 4: Università di Milano, Milan, Italy

Toward clinical implementation of quantitative proteomics in the detection of mitochondrial disorders

Daniella H Hock¹, Liana N Semcesen¹, Nikeisha J Caruana^1,2, Sumudu Amarasekera^1,3, Teresa Zhao^1,3,4, Ann E Frazier^1,3, Shabnam Bakhshalizadeh^1,3, Megan Ball^1,3,4, Tegan Stait^3,4, Jessie Jacobsen^5,6, Emma Glamuzina^5,6, Bryony Ryder^5,6, Johan L K Van Hove⁷, Elena Tucker^1,3, Andrew Sinclair^1,3,4, Cas Simons^8,9, Alison G Compton^1,3,4, John Christodoulou^1,3,4, David R Thorburn^1,3,4, David A Stroud^1,3,4

1: University of Melbourne, Parkville, Australia; 2: Victoria University, Footscray, Australia; 3: Murdoch Children’s Research Institute, Melbourne, Australia; 4: Victorian Clinical Genetics Services, Melbourne, Australia; 5: National Metabolic Service Auckland City Hospital, Auckland, New Zealand; 6: Starship Children's Hospital, Auckland, New Zealand; 7: University of Colorado, Aurora, United States of America; 8: Centre for Population Genomics, Melbourne, Australia; 9: Garvan Institute of Medical Research, Sydney, Australia

A DNM2-related myopathy mimicking a primary mitochondrial disorder

Ignazio Giuseppe Arena¹, Rosalba Carrozzo², Mattia Porcino¹, Alba Migliorato³, Carmelo Rodolico¹, Olimpia Musumeci¹

1: Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; 2: Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; 3: Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

Assessing the association of mitochondrial DNA genes with Primary Mitochondrial Disease using the ClinGen Clinical Validity Framework

Elizabeth M. McCormick¹, James T. Peterson¹, Julie P. Taylor², Krista Bluske², Amanda R. Clause², Anjana Chandrasekhar², Josh Lowry², Alison J. Coffey², Xiaowu Gai^3,4, Marni J. Falk^1,5, Zarazuela Zolkipli-Cunningham^1,5, Shamima Rahman⁶

1: Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA; 2: Illumina Laboratory Services, Illumina Inc., San Diego, CA; 3: Center for Personalized Medicine, Department of Pathology & Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA; 4: Keck School of Medicine, University of Southern California, Los Angeles, CA; 5: Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; 6: Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom

Functional characterisation of the m.8424T>C MT-ATP8 variant using quantitative proteomics

Liana Semcesen¹, Nikeisha Caruana^1,2, Daniella Hock¹, Alison Compton^1,3,4, Zornitza Stark^1,4,5, John Christodoulou^1,3,4, David Thorburn^1,3,4, David Stoud^1,3,4

1: University of Melbourne, Parkville, Australia; 2: Victoria University, Footscray, Australia; 3: Murdoch Children’s Research Institute, Melbourne, Australia; 4: Victorian Clinical Genetics Services, Melbourne, Australia; 5: Australian Genomics, Melbourne, Australia

COX18 variants cause isolated Complex IV deficiency associated with neonatal hypertrophic cardiomyopathy, myopathy and axonal sensory neuropathy

Dario Ronchi¹, Megi Meneri^1,2, Francesca Magri², Francesca Menni², Manuela Garbellini², Maria Francesca Bedeschi², Robertino Dilena², Valeria Cecchetti², Irene Picciolli², Francesca Furlan², Valentina Polimeni², Sabrina Salani², Laura Pezzoli², Francesco Fortunato¹, Matteo Bellini³, Sara Antognozzi², Daniela Piga², Michela Ripolone², Simona Zanotti², Laura Napoli², Patrizia Ciscato², Monica Sciacco², Giovanna Mangili³, Fabio Mosca², Stefania Corti^1,2, Maria Iascone³, Giacomo Pietro Comi^1,2

1: Dino Ferrari Center, University of Milan, Italy; 2: IRCCS Cà Granda Ospedale Maggiore Policlinico Milan, Italy; 3: ASST Papa Giovanni XXIII, Bergamo, Italy

Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1

Daria Diodato¹, Michela Di Nottia², Alessandra Torraco², Teresa Rizza², Claudia Nesti³, Enrico Baruffini³, Diego Martinelli⁴, Margherita Verardo¹, Adele D'Amico¹, Filippo Maria Santorelli⁵, Enrico Bertini¹, Rosalba Carrozzo²

1: Muscular and Neurodegenerative Disorders Unit, Children Hospital Bambino Gesù; 2: Cellular biology and mitochondrial diseases diagnostics, Children Hospital Bambino Gesù; 3: Department of Chemistry Life Sciences and Environmental Sustainability, University of Parma; 4: Metabolism Division, Children Hospital Bambino Gesù, Rome; 5: Molecular Medicine, IRCCS Stella Maris, Pisa

Bi-allelic TEFM variants are associated with a treatable mitochondrial myopathy

Alessandra Torraco¹, Guido Primiano^2,3, Anastasia Altobelli¹, Teresa Rizza¹, Michela Di Nottia¹, Rosalba Carrozzo¹, Serenella Servidei^2,3

1: Unit of Cellular Biology and Diagnosis of Mitochondrial Disease, Bambino Gesù Children’s Hospital, IRCCS, Rome Italy.; 2: Dipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; 3: Dipartimento Di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy.

TOMM40L as a new causative gene for autosomal recessive mitochondrial disease.

Francisco Javier Cotrina Vinagre¹, María Elena Rodríguez García¹, Lucía Del Pozo Filiú¹, Elena Martín Hernández^2,3, Francisco Martínez Azorín^1,3

1: Laboratorio de Enfermedades Mitocondriales. Instituto de Investigación Hospital 12 de Octubre (i+12), E-28041 Madrid, Spain.; 2: Unidad Pediátrica de Enfermedades Raras, Enfermedades Mitocondriales y Metabólicas Hereditarias, Hospital 12 de Octubre, E-28041, Madrid, Spain.; 3: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723, E-28041 Madrid, Spain.

A primary cardiological phenotype caused by an inherited mtDNA single deletion: a case report from an Italian pedigree

Piervito Lopriore¹, Christiane Neuhofer^2,3, Vincenzo Montano¹, Adriana Meli¹, Annalisa Lo Gerfo⁴, Giulia Cecchi⁴, Maria Adelaide Caligo⁴, Riccardo Berutti^2,3, Robert Kopajtich^2,3, Gabriele Siciliano¹, Holger Prokisch^2,3, Michelangelo Mancuso¹

1: Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy; 2: Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; 3: Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, Germany; 4: Laboratory of Molecular Genetics, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy

Genetic characterization of a large cohort of Spanish patients with TK2 deficiency. A founder effect of two TK2 variants partially contributes to a higher prevalence of the disorder in Spain.

Cristina Domínguez-González^1,2, Pablo Serrano-Lorenzo^1,2, Alberto Blázquez^1,2, Juan Francisco Quesada-Espinosa¹, Jorge Amigo Lechuga³, Pablo Mínguez^2,4, Carmen Ayuso^2,4, Elena García-Arumí⁵, Nuria Muelas^2,6, Teresa Jaijo⁶, Andrés Nascimento⁷, Beatriz Galán-Rodriguez⁸, Carmen Paradas^8,9, Joaquín Arenas^1,2, Ángel Carracedo^2,3, Ramon Martí^2,5, Miguel A. Martin^1,2

1: Hospital Universitario 12 de Octubre, imas12 Research Institute, Madrid, Spain; 2: Spanish Network for Biomedical Research in Rare Diseases (CIBERER); 3: Fundación Galega de Medicina Xenómica, Santiago de Compostela, Spain; 4: Instituto de Investigación Sanitaria, Hospital Universitario FundaciónJiménez Díaz, Madrid, Spain; 5: Research Group on Neuromuscular and Mitochondrial Diseases, Vall d’Hebron Research Institute, Autonomous University of Barcelona, Barcelona; 6: Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia; 7: Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona, Spain.; 8: Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, Sevilla, Spain.; 9: Center for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED)

HSD17B10 interacts with CBR4 to form human mitochondrial 3-ketoacyl-acyl carrier protein reductase 2 (KAR2) in the mitochondrial fatty acid synthesis pathway

Ali Julfiker Md Masud, Guangyu Jiang, Kaija J Autio, J Kalervo Hiltunen, Alexander J Kastaniotis

Faculty of Biochemistry and Molecular Medicine, University of Oulu, Finland

Novel atypical variants causing pyruvate dehydrogenase complex deficiency

Helene Bruhn^1,2, Karin Naess^1,2, Sofia Ygberg^2,3, Nicole Lesko^2,4, Rolf Wibom^1,2, Anna Wedell^2,4, Anna Wredenberg^1,2

1: Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden; 2: Centre of inherited metabolic diseases, Karolinska University Hospital, Stockholm, Sweden; 3: Neuropediatric Unit, Dept of Women’s, and Children's Health, Karolinska Institutet, Stockholm, Sweden; 4: Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden

Novel genetic discoveries detected using diagnostic OMICSs in patients suspected to suffer from multiple acyl-CoA dehydrogenation deficiency

Signe Mosegaard^1,11, Mirjana Gusic^2,3, Yasuhiko Ago⁴, Xiao Yue⁴, Vincente Yépez^3,5, Julien Gagneur^3,5, Robert Kopajtich³, Dmitrii Smirnov³, Sarah Stenton², Robert Barski⁶, Mark Sharrard⁷, Stanley H. Korman⁸, Jolanta Sykut-Cegielska⁹, Anibh M. Das¹⁰, Helle H. Nygaard¹¹, Margrethe Kjeldsen¹¹, Yusof Rahman¹², Skadi Beblo¹³, Mirian C. H. Janssen¹⁴, Eva Morava¹⁵, Leo A. J. Kluijtmans¹⁶, Alexander Asamoah¹⁷, Emma Buckley¹⁸, Isaque Qureshi¹⁸, Godfrey T. Gillett¹⁹, Ole H. Larsen²⁰, Niels Gregersen¹¹, Toshiyuki Fukao^4,21, Hideo Sasai⁴, Simon Olpin²², Holger Prokisch^2,3, Rikke K. J. Olsen¹¹

1: Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands; 2: Institute of Neurogenomics, Helmholtz Zentrum München, Germany; 3: Institute of Human Genetics, School of Medicine, Technical University Munich, München, Germany.; 4: Department of Pediatrics, Graduate School of Medicine, Gifu University Hospital, Gifu, Japan.; 5: Department of Informatics, Technical University of Munich, Garching, Germany.; 6: Department of Biochemical Genetics, St James's University Hospital, Leeds, UK.; 7: Department of Pediatrics, Sheffield Children's Hospital, Sheffield, UK.; 8: Department of Pediatrics, Shaare Zedek Medical Center, Jerusalem, Israel.; 9: Department of Inborn Errors of Metabolism and Paediatrics, The Institute of Mother and Child, Warsaw, Poland.; 10: Department of Pediatrics, Hannover Medical School, Hannover, Germany.; 11: Research Unit for Molecular Medicine, Aarhus University and Aarhus University Hospital, Aarhus, Denmark.; 12: Center for Inherited Metabolic Disorders, Guy’s & St Thomas’ Hospital NHS Foundation Trust, London, UK.; 13: University Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany.; 14: Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; 15: Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA; 16: Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.; 17: UofL Physicians Novak Center for Children's Health, Louisville, USA.; 18: Nottingham Children’s Hospital, Nottingham University Hospitals NHS Trust, Queen's Medical Centre, Nottingham, UK; 19: Sheffield Teaching Hospitals NHS Trust, University of Sheffield, Sheffield, UK; 20: Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; 21: Clinical Genetics Center, Gifu University Hospital, Gifu, Japan.; 22: Department of Clinical Chemistry, Sheffield Children’s Hospital, Sheffield, UK.

The Australian genomics mitochondrial flagship: a national program delivering mitochondrial diagnoses

David Thorburn^1,2,3, Naomi Baker^2,3, Shanti Balasubramaniam⁴, Stephanie Best⁵, Kaustuv Bhattacharya⁴, Kristen Boggs⁴, Sarah Borrie⁶, Drago Bratkovic⁶, Jeffrey Braithwaite⁵, Alessandra Bray⁴, Jo Burke⁷, David Coman^8,9, Alison Compton^1,2, Mark Cowley¹⁰, Martin Delatycki^2,3, Michelle de Silva^1,2,3, Carolyn Ellaway⁴, Michael Fahey¹¹, Janice Fletcher¹², Leah Frajman^1,2, Ann Frazier^1,2, Velimer Gayeskiv⁹, Roula Ghaoui¹², Himanshu Goel¹³, Ilias Goranitis², Daniella Hock², Denise Howting¹⁴, Matilda Jackson⁶, Maina Kava¹⁵, Sarah King-SMith⁶, Nicole Lake^1,16, Phillipa Lamont^15,17, Joy Lee^2,18, Janet Long⁵, Mandi MacShane¹⁵, Ellenore Martin⁴, Jim McGill⁸, Sean Murray¹⁹, Julie Panetta¹¹, Liza Phillips²⁰, Michael Quinn²¹, Rocio Rius^1,2, Michael Ryan²², Nicholas Smith⁶, David Stroud^1,2,3, Michel Tchan²³, Melanie Tom²¹, Matthew Wallis⁷, Tyson Ware²⁴, AnneMarie Welch¹, Christine Wools¹¹, Eunice Wu², John Christodoulou^1,2,3

1: Murdoch Children's Research Institute, Melbourne, Australia; 2: University of Melbourne, Melbourne, Australia; 3: Victorian Clinical Genetics Services, Melbourne,; 4: Sydney Children’s Hospitals Network, Westmead, Australia; 5: Macquarie University, Sydney, Australia; 6: Women’s and Children’s Hospital, Adelaide, Australia; 7: Tasmanian Clinical Genetics Service, Hobart, Australia; 8: Queensland Children’s Hospital, Brisbane, Australia; 9: Wesley Hospital, Brisbane, Australia; 10: Garvan Institute, Sydney, Australia; 11: Royal Melbourne Hospital, Melbourne, Australia; 12: Royal Adelaide Hospital, Adelaide, Australia; 13: John Hunter Hospital, Newcastle, Australia; 14: Harry Perkins Institute of Medical Research, Perth, Australia; 15: Perth Children’s Hospital, Perth, Australia; 16: Yale School of Medicine, New Haven, CT, USA; 17: Royal Perth Hospital, Perth, Australia; 18: Royal Children’s Hospital, Melbourne, Australia; 19: Mito Foundation, Sydney, Australia; 20: Mater Hospital, Brisbane, Australia; 21: Genetic Health Queensland, Brisbane, Australia; 22: Monash University, Melbourne, Australia; 23: Westmead Hospital, Westmead, Australia; 24: Royal Hobart Hospital, Hobart, Australia

A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNAPro

Irene Bruno¹, Elena Ghirigato², Mirko Baglivo³, Francesca Terenzi², Nadia Zanetti³, Massimo Zeviani¹, Eleonora Lamantea³

1: Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy; 2: Department of Medicine, Surgery, and Health Sciences, University of Trieste, Trieste, Italy; 3: Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies. 

Daniele Sala¹, Silvia Marchet¹, Lorenzo Nanetti¹, Andrea Legati¹, Caterina Mariotti¹, Eleonora Lamantea¹, Daniele Ghezzi^1,2, Alessia Catania¹, Costanza Lamperti¹

1: Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta; 2: Department of Pathophysiology and Transplantation (DEPT), University of Milan

Biallelic pathogenic variants of PARS2 cause Developmental and Epileptic Encephalopathy with Spike-and-Wave Activation in Sleep

Laura Licchetta¹, Carlotta Stipa¹, Raffaella Minardi¹, Margherita Santucci^1,2, Lucia Di Giorgi^2,3, Martina Soldà¹, Valerio Carelli^1,2, Francesca Bisulli^1,2

1: IRCCS, Istituto delle Scienze Neurologiche di Bologna, Italy; 2: Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy; 3: Department of Biomedicine, Neuroscience and Advanced Diagnostics, University of Palermo, Italy.

Novel KARS1 mutation causes early-onset lethal cardiomyopathy

Sara Casalini¹, Silvia Buratti¹, Chiara Panicucci¹, Maria Elena Derchi¹, Marco Scaglione¹, Claudia Nesti², Monica Traverso¹, Francesca Madia¹, Michela Di Nottia³, Chiara Fiorillo¹, Valeria Capra¹, Filippo Maria Santorelli², Andrea Moscatelli¹, Rosalba Carrozzo³, Claudio Bruno¹

1: IRCCS Istituto Giannina Gaslini, Genoa; 2: IRCCS Fondazione Stella Maris, Calambrone (PI); 3: IRCCS Ospedale Bambin Gesù, Rome

The ER-MITO (Emilia Romagna-Mitochondrial) project: prevalence and genetics of Chronic Progressive External Ophthalmoplegia (CPEO) in an Italian region

Maria Lucia Valentino^1,2, Leonardo Caporali¹, Chiara La Morgia^1,2, Flavia Palombo¹, Martina Romagnoli¹, Cristina Fonti¹, Alessandra Maresca¹, Rocco Liguori^1,2, Corrado Zenesini¹, Roberto D'Alessandro¹, Valerio Carelli^1,2

1: IRCCS Institute of Neurological Sciences of Bologna, Italy; 2: Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy

UCHL1 missense and loss-of-function variants as an emerging cause of autosomal dominant optic atrophy (ADOA)

Claudio Fiorini¹, Giada Capirossi^1,2, Eleonora Pizzi¹, Federico Sadun³, Maria Lucia Cascavilla⁴, Chiara La Morgia^1,2, Marco Battista⁴, Piero Barboni⁴, Danara Ormanbekova¹, Valentina Del Dotto², Flavia Palombo¹, Valerio Carelli^1,2, Alessandra Maresca¹, Leonardo Caporali²

1: IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy; 2: Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Italy; 3: Ospedale Oftalmico Roma, Rome, Italy; 4: Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele, Milan, Italy

Mitochondrial dysfunction in patients with early-onset UFM1-linked encephalopathy

Samira Ait El Mkadem - Saadi^1,2, Cécile Rouzier^1,2, Annabelle Chaussenot^1,2, Konstantina Fragaki^1,2, Sylvie Bannwarth^1,2, Julien Neveu³, Aline Cano³, Brigitte Chabrol³, Véronique Paquis-Flucklinger^1,2

1: National Centre for Mitochondrial Diseases, Nice Teaching Hospital (CHU de Nice), Department of Medical Genetics, Nice, France; 2: Université Côte d'Azur, CHU, Inserm, CNRS, IRCAN, France; 3: APHM, La Timone Hospital, Department of Neuropediatrics, Marseille, France

A novel dominant variant in the ISCU gene is associated with mitochondrial myopathy

Joanna Rusecka^1,2, Dominika Szczęśniak^2,3, Magdalena Kacprzak², Damian Loska², Kamila Czerska², Agnieszka Sobczyńska-Tomaszewska²

1: Maria Sklodowska-Curie, Medical Academy in Warsaw, Poland; 2: MedGen Medical Center, Warsaw, Poland; 3: Institute of Psychiatry and Neurology, Warsaw, Poland

Expanding the spectrum of clinical presentations associated with COA8 pathogenic

Sara Antognozzi¹, Magi Meneri^1,2, Francesca Magri¹, Manuela Garbellini¹, Sabrina Salani¹, Francesco Fortunato², Michela Ripolone¹, Simona Zanotti¹, Patrizia Ciscato¹, Monica Sciacco¹, Stefania Corti^1,2, Giacomo Pietro Comi^1,2, Dario Ronchi²

1: IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy; 2: Dino Ferrari Center, University of Milan, Milan, Italy

A novel mitochondrial DNA variant, m.14430A>C, in MT-ND6 as the likely cause of Leigh syndrome with mitochondrial complex I deficiency.

Surita Meldau^1,2, Gillian T M Riordan^1,3, Sally Ackermann⁴, Sharika Raga^1,3,6, Careni Spencer^1,5, George F Van der Watt^1,2, Kashief Khan², Francois H Van der Westhuizen⁷

1: University of Cape Town, Cape Town, South Africa; 2: National Health Laboratory Sevices, South Africa; 3: Red Cross War Memorial Children's Hospital, Cape Town, South Africa; 4: Constantiaberg Mediclinic, Cape Town, South Africa; 5: Grootte Schuur Hospital, Cape Town, South Africa; 6: Neuroscience Institute, University of Cape Town, Cape Town, South Africa; 7: Human Metabolomics, North-West University, Potchefstroom, South Africa

Leigh syndrome and Fanconi renotubular syndrome are the main clinical phenotype due to mutations in NDUFAF6 gene.

Teresa Rizza¹, Alessandra Torraco¹, Michela Di Nottia¹, Daniela Verrigni¹, Anastasia Altobelli¹, Diego Martinelli¹, Daria Diodato¹, Stephanie Efthymiou², Carlo Dionisi-Vici¹, Enrico Bertini¹, Reza Maroofian², Agnes Rotig³, Rosalba Carrozzo¹

1: Bambino Gesù Children Hospital, Italy; 2: UCL Queen Square Institute of Neurology; 3: Université Paris Descartes, Sorbonne Paris Cité

Mitochondrial encephalomyopathy associated with the m.618T>C in MT-TF

Aryane Silva Coutinho², Tainara Zappia Tessaro¹, Rodrigo Fonseca Vilanova¹, Celia Harumi Tengan²

1: Hospital Municipal Dr. José de Carvalho, Brazil; 2: Escola Paulista de Medicina, Universidade Federal de São Paulo, Brazil

TWNK in Parkinson's disease: a Movement Disorder and Mitochondrial Disease Center perspective study

Marco Percetti^1,2,3, Giulia Franco^3,4, Edoardo Monfrini^3,4, Leonardo Caporali⁵, Raffaella Minardi⁵, Chiara La Morgia⁵, Maria Lucia Valentino^5,6, Rocco Liguori^5,6, Ilaria Palmieri⁷, Donatella Ottaviani⁸, Maria Vizziello³, Dario Ronchi³, Federica Di Berardino⁹, Antoniangela Cocco^10,11, Bertil Macao¹², Maria Falkenberg¹², Giacomo Pietro Comi^3,4, Alberto Albanese¹¹, Bruno Giometto⁸, Enza Maria Valente^7,13, Valerio Carelli^5,6, Alessio Di Fonzo^3,4

1: School of Medicine and Surgery and Milan Center for Neuroscience, University of Milan-Bicocca.; 2: Foundation IRCCS San Gerardo dei Tintori, Monza; 3: Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy; 4: Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy; 5: IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy; 6: Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; 7: Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy; 8: Neurology Unit, Rovereto Hospital, Azienda Provinciale per i Servizi Sanitari (APSS) di Trento, Trento, Italy; 9: Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Audiology Unit, Milan, Italy; 10: University of Milan, Milan, Italy; 11: Department of Neurology, Istituto di Ricovero e Cura a Carattere Scientifico Humanitas, Research Hospital, Milan, Italy; 12: Department of Medical Biochemistry and Cell Biology, University of Gothenburg, P.O. Box 440, SE 405 30 Gothenburg, Sweden; 13: Department of Molecular Medicine, University of Pavia, Pavia, Italy.

Novel pathogenic MT-ND3 variant causing a particular MELAS phenotype

Lucile Riera-Navarro¹, Cécile Rouzier¹, Samira Saadi Ait-El-Mkadem¹, Konstantina Fragaki^1,2, Sylvie Bannwarth^1,2, Pierre Thomas³, Luisa Villa⁴, Véronique Paquis Flucklinger^1,2, Annabelle Chaussenot¹

1: CHU de Nice, France; 2: Université Côte d'Azur, CNRS, INSERM, IRCAN; 3: Service de Neurologie- Hôpital Pasteur 2, CHU de Nice; 4: Centre de référence des Maladies neuromusculaires

Mitochondrial molecular genetic findings in the South African diagnostic setting

Surita Meldau^1,2, Elizabeth Patricia Owen^1,2, Kashief Khan², Gillian Tracy Riordan³

1: University of Cape Town, Cape Town, South Africa; 2: National Health Laboratory Sevices, South Africa; 3: Red Cross War Memorial Children's Hospital, Cape Town, South Africa

Known genes, new genes and new phenotypes in inherited mitochondrial eye diseases

Neringa Jurkute^1,2,3, Gavin Arno^1,2,4, Patrick Yu-Wai-Man^1,2,5,6, Andrew R Webster^1,2

1: Moorfields Eye Hospital NHS Foundation Trust, London, UK; 2: Institute of Ophthalmology, University College London, London, UK; 3: The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK; 4: North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; 5: John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; 6: Cambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals, Cambridge, UK

LHON spectrum disorder: new phenotypes and genotypes

Marco Battista¹, Leonardo Caporali², Enrico Borrelli¹, Giorgio Lari¹, Alice Galzignato³, Claudio Fiorini², Paolo Nucci⁴, Francesco Bandello¹, Maria Lucia Cascavilla¹, Valerio Carelli^2,5, Piero Barboni¹

1: San Raffaele Hospital, Italy; 2: IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica (Bologna, Italy); 3: Studio Oculistico d’Azeglio (Bologna, Italy); 4: Department of Clinical Science and Community Health, University of Milan, (Milan, Italy); 5: Unit of Neurology, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna (Bologna, Italy)

Chronic asymmetric progressive external ophthalmoplegia without eyelid weakness

Jae Ho Jung

Seoul National University Hospital, Korea, Republic of (South Korea)

Bayesian inference enables discovery of functional effects of heteroplasmic mitochondrial mutations in the developing brain

Aidan Scott Marshall, Yue Nie, Nick.S Jones, Patrick.F Chinnery

Imperial College London, United Kingdom

Cell lineage-specific mitochondrial gene expression is established in the early embryo, prior to organ maturation

Stephen P. Burr^1,2, Florian Klimm^1,2,3, Angelos Glynos^1,2, Malwina Prater^1,2,4, James B. Stewart^5,6, Patrick F. Chinnery^1,2, Michele Frison^1,2

1: Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; 2: Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; 3: Novo Nordisk Research Centre Oxford, Innovation Building, University of Oxford, Old Road Campus, Oxford, UK; 4: Functional Genomics Centre, Milner Therapeutics Institute, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK; 5: Max Planck Institute for Biology of Ageing, Cologne, Germany; 6: Biosciences Institute, Faculty of Medical Sciences, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK

Identifying mitochondrial methyltransferases using unbiased proteome-ligand profiling

Alissa Wilhalm¹, David Moore¹, Florian Rosenberger¹, Anna Wedell², Christoph Freyer¹, Anna Wredenberg^1,2

1: Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden, Sweden; 2: Centre of Inherited metabolic diseases, Karolinska University Hospital, Stockholm, Sweden

Engineering mitochondrial aminoacyl-tRNA synthetases as a tool to investigate mitochondrial protein synthesis

Christin A Albus, Ellyn N Willsher, Syeda Z Akthar, Robert N Lightowlers, Zofia MA Chrzanowska-Lightowlers

Newcastle University, United Kingdom

Short-read NGS for the screening of structural and copy number alterations in mtDNA as powerful diagnostic tool.

Christiane Neuhofer^1,2, Rossella Izzo³, Riccardo Berutti^1,2, Martin Pavlov², Eleonora Lamantea³, Elisabeth Graf¹, Costanza Lamperti³, Thomas Klopstock⁴, Holger Prokisch^1,2, Daniele Ghezzi^3,5, Andrea Legati³

1: Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, (Munich, Germany); 2: Institute of Neurogenomics, Helmholtz Zentrum München (Neuherberg, Germany); 3: Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy); 4: Department of Neurology, Friedrich-Baur-Institute, LMU Hospital, Ludwig Maximilians University (Munich, Germany); 5: Department of Pathophysiology and Transplantation, University of Milan (Milan, Italy)

Ethical dilemmas and diagnostic uplifts; primary mitochondrial disease the era of first line whole genome sequencing

William L. Macken^1,2, Rachel L. Horton^3,4, Michael G. Hanna^1,2, Anneke M. Lucassen^3,4, Robert D.S. Pitceathly^1,2

1: UCL Queen Square Institute of Neurology, United Kingdom; 2: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; 3: Centre for Personalised Medicine, and Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK; 4: Clinical Ethics, Law and Society, Faculty of Medicine, University of Southampton, Southampton, UK

Analysis of mitochondrial metabolism using 13C-labeled mass isotopologue analysis and mass spectrometry as a new approach for the diagnostics of mitochondrial disorders

Liesbeth T. Wintjes¹, Arno van Rooij¹, Sacha Hendriks¹, Coby M. Laarakkers¹, Richard J.T. Rodenburg^1,2

1: Department of Genetics, Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands.; 2: Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboudumc, Nijmegen, The Netherlands

Subcellular metabolomics: a pipeline for compartment-specific metabolic investigations in a mouse model of Leigh syndrome

Gunter van der Walt, Jason Elferink, Zander Lindeque, Shayne Mason, Roan Louw

North-West University, South Africa

High‐content screening for modulators of mitochondria‐ER contact sites and identification of their protein targets

Tomas Knedlik¹, Federica Dal Bello¹, Marta Giacomello^1,2

1: Department of Biology, University of Padova, Italy; 2: Department of Biomedical Sciences, University of Padova, Italy

A novel Approach to assess the pathogenicity of mtDNA Variants

Omar Tutakhel, Frans van den Brandt, Kai Francke, Hatice Nur Ozhan, Frans Maas, Daan Panneman, Liesbeth Wintjes, Roel Smeets, Dirk Lefeber, Bert van den Heuvel, Richard J. Rodenburg

RadboudUMC, Translational Metabolic Laboratory, Dept of Pediatrics, Nijmegen, The Netherlands

At the core of the apoptotic foci

Hector Flores-Romero, Aida Peña Blanco, Lisa Hohorst, Jonas Aufdermauer, Shashank Dadsena, Cristiana Zollo, Rodrigo Cuevas-Arenas, Ana J. Garcia-Saez.

CECAD, Germany

Clinical utility of ultra-rapid genomic testing for infants and children with a suspected mitochondrial disorder

John Christodoulou^1,2,3,4, Sophie Bouffler⁵, Chirag Patel⁶, Sarah Sandaradura^4,7, Meredith Wilson^4,7,8, Jason Pinner^8,9, Matthew Hunter^10,11, Christopher Barnett^12,13,14, Mathew Wallis^15,16, Benjamin Kamien¹⁷, Tiong Tan^1,2,3, Mary-Louise Freckmann¹⁸, Karin Kassahn^13,14, Tony Roscioli^19,20,21, Alison Compton^1,2,3, David Thorburn^1,2,3, Sebastian Lunke^1,2,3,5, Zornitza Stark^1,2,3,5

1: Murdoch Children's Research Institute, Melbourne, Australia; 2: University of Melbourne, Melbourne, Australia; 3: Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; 4: University of Sydney, Sydney, Australia; 5: Australian Genomics, Melbourne, Australia; 6: Genetic Health Queensland, Royal Brisbane and Women’s Hospital, Brisbane, Australia; 7: Sydney Children’s Hospitals Network – Westmead, Sydney, Australia; 8: Sydney Children’s Hospitals Network – Randwick, Sydney, Australia; 9: University of New South Wales, Sydney, Australia; 10: Monash Genetics, Monash Health, Melbourne, Australia; 11: Department of Paediatrics, Monash University, Melbourne, Australia; 12: Paediatric and Reproductive Genetics Unit, Women’s and Children’s Hospital, North Adelaide, Australia; 13: Adelaide Medical School, The University of Adelaide, Adelaide, Australia; 14: Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia; 15: Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, Australia; 16: School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia; 17: Genetic Services of Western Australia, Perth, Australia; 18: Department of Clinical Genetics, The Canberra Hospital, Canberra, Australia; 19: Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; 20: Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, Australia; 21: Neuroscience Research Australia (NeuRA) and Prince of Wales Clinical School, UNSW, Sydney, Australia

Contribution of RNA-seq to diagnosis and determination of functional impact of candidate variants in 45 patients suspected of mitochondrial disease.

Gerard Muñoz-Pujol¹, Olatz Ugarteburu¹, Blai Morales¹, Judit García-Villoria¹, Laura Gort¹, Vicente A. Yépez², Julien Gagneur², Mirjana Gusic², Holger Prokisch², Marc Dabad³, Anna Esteve-Codina³, Antonia Ribes¹, Frederic Tort¹

1: Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, Barcelona, Spain; 2: Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany; 3: CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology and Universitat Pompeu Fabra, Barcelona, Spain

Dynamics of NAD and glutathione metabolites in blood during aging, in disease and upon supplementation with NAD-booster

Liliya Euro^1,2, Kimmo Haimilahti¹, Sonja Jansson^1,2, Jana Buzkova^1,2, Anu Suomalainen-Wartiovaara^1,3

1: University of Helsinki, Finland; 2: NADMED Ltd, Finland; 3: HUS Diagnostic Centre, Finland

Enzymatic assay for UDP-GlcNAc and its application in the parallel assessment of substrate availability and protein O-GlcNAcylation

Marc Sunden^1,2, Divya Upadhyay^1,2, Rishi Banerjee^1,2, Nina Sipari³, Vineta Fellman^1,2,4, Jukka Kallijarvi^1,2, Janne Purhonen^1,2

1: Folkhalsan Research Center, Finland; 2: Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Finland; 3: Viikki Metabolomics Unit, University of Helsinki, Finland; 4: Children’s Hospital, Helsinki University Hospital, Finland

Genetic testing for mitochondrial disease: The United Kingdom best practice guidelines

Eleni Mavraki^1,2, Robyn Labrum³, Kate Sergeant⁴, Charlotte L Alston^1,2, Cathy Woodward³, Conrad Smith⁴, Charlotte V Y Knowles^1,2, Yogen Patel³, Philip Hodsdon⁴, Jack P Baines^1,2, Emma L Blakely^1,2, James Polke³, Robert W Taylor^1,2, Carl Fratter⁴

1: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 2: Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; 3: Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; 4: Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK

Identification of uncharacterized genes involved in mitochondrial OXPHOS function and integrity.

Marcos Javier Zamora Dorta, Sara Laine Menéndez, David Abia Holgado, Eduardo Balsa Martínez

Centro de Biología Molecular Severo Ochoa, Spain

Investigating the role of mito-nuclear genetic variation in determining m.3243A>G variant heteroplasmy

Alia K. Saeed¹, Róisín M. Boggan¹, Imogen G. Franklin¹, Charlotte L. Alston^1,2, Emma L. Blakely^1,2, Boriana Büchner³, Enrico Bugiardini⁴, Kevin Colclough⁵, Gráinne S. Gorman¹, Catherine Feeney¹, Michael G. Hanna⁴, Andrew T. Hattersley⁶, Thomas Klopstock^3,7,8, Cornelia Kornblum⁹, Michelangelo Mancuso¹⁰, Yi Shiau Ng¹, Kashyap A. Patel⁶, Robert D. S. Pitceathly⁴, Chiara Pizzamiglio⁴, Holger Prokisch^11,12, Jochen Schäfer¹³, Andrew M. Schaefer¹, Maggie H. Shepherd⁶, Annemarie Thaele¹⁴, Doug M. Turnbull¹, Cathy E. Woodward¹⁵, Heather J. Cordell¹⁶, Robert McFarland¹, Robert W. Taylor^1,2, Gavin H. Hudson¹, Sarah J. Pickett¹

1: Wellcome Centre for Mitochondrial Research and Institute for Translational and Clinical Research, Newcastle University, Newcastle upon Tyne, UK; 2: NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 3: Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-University (LMU Klinikum), Munich, Germany; 4: Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK; 5: Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK; 6: Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK; 7: Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; 8: German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; 9: Department of Neurology, University Hospital Bonn, Bonn, Germany; 10: Neurological Institute of Pisa, Italy; 11: Institute of Human Genetics, School of Medicine, Technische Universität München, München, Germany; 12: Institute of Neurogenomics, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany; 13: Department of Neurology, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany; 14: Department of Neurology, Martin-Luther-University Halle-Wittenberg, 06120 Halle (Saale), Germany; 15: Neurogenetics Unit, The National Hospital for Neurology and Neurosurgery, London, UK; 16: Population Health Sciences Institute, Newcastle University, UK

Mitochondrial DNA depletion and deletion analysis using smMIPs

Maaike Brink^1,2, Sanne van Kraaij^1,2, Sanne Sweegers^1,2, Roel Smeets^1,2, Richard Rodenburg^1,2,3

1: Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands; 2: Radboud Center for Mitochondrial Medicine (RCMM), Radboudumc, Nijmegen, The Netherlands; 3: Department of Pediatrics, Radboudumc, Nijmegen, The Netherlands

Ultrastructure of mitochondria in 3D from volume electron microscopy

Chenhao Wang^1,2, Leif Østergaard^3,4, Stine Hasselholt^3,4, Jon Sporring^1,2

1: Department of Computer Science, University of Copenhagen, Denmark; 2: Center for Quantification of Imaging Data from MAX IV; 3: Department of Clinical Medicine, Aarhus University, Denmark; 4: Center of Functionally Integrative Neuroscience

Visualizing ATP dynamics in living mice

Masamichi Yamamoto, Jungmi Choi

National Cerebral and Cardiovascular Center, Japan

Applying sodium carbonate extraction mass spectrometry to investigate defects in the mitochondrial respiratory chain

David Robert Lindsay Robinson¹, Daniella Hock¹, Linden Muellner-Wong^1,2, Roopingsam Kugapreethan¹, Boris Reljic^1,3, Elliot Surgenor^3,4, Carlos Rodrigues^1,5, Nikeisha Caruana^1,6, David Stroud^1,2

1: Department of Biochemistry and Pharmacology, University of Melbourne, Melbourne, Australia; 2: Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, Australia; 3: Department of Biochemistry and Molecular Biology, Monash University, Melbourne,Australia; 4: The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; 5: Baker Heart and Diabetes Institute, Melbourne, Australia; 6: Institute for Health and Sport (IHES), Victoria University, Melbourne, Australia

Global analysis of protein methylation in the mitochondrial compartment of cancer cells: a proteomic approach

Ayusi Mondal^1,2, Alessandro Vai^1,2, Silvia Pedretti^1,3, Marianna Maniaci¹, Nico Mitro^1,3, Tiziana Bonaldi^1,4

1: Department of Experimental Oncology, European Institute of Oncology (IEO), IRCCS Milano, Italy; 2: European School of Molecular Medicine (SEMM); 3: Department of Pharmacological and Biomolecular Sciences, University of Milan, Italy; 4: Department of Oncology and Hematology-Oncology, University of Milan, Milan, Italy

MITODIAG : The French network of diagnostic laboratories for mitochondrial diseases

Cécile Rouzier¹, Emmanuelle Pion², Céline Bris³, Patrizia Bonneau³, Valérie Desquiret³, Jean-Paul Bonnefont⁴, Pauline Gaignard⁵, Elise Lebigot⁵, Samira Ait-El-Mkadem Saadi¹, Sylvie Bannwarth¹, Konstantina Fragaki¹, Benoit Rucheton⁶, Marie-Laure Martin-Negrier⁷, Aurélien Trimouille⁷, Cécile Acquaviva-Bourdain⁸, Cécile Pagan⁸, Anne-Sophie Lebre⁹, Gaelle Hardy¹⁰, Stéphane Allouche¹¹, Pascal Reynier³, Mireille Cossee¹², Sharam Attarian¹³, Véronique Paquis-Flucklinger¹, Vincent Procaccio³

1: Service de génétique médicale, Centre de référence des maladies mitochondriales, CHU Nice, Université Cote d’Azur, CNRS, INSERM, IRCAN, Nice; 2: Filnemus, laboratoire de génétique moléculaire, CHU Montpellier; 3: Service de génétique, Institut de Biologie en santé, Centre National de référence Maladies Neurodégénératives et Mitochondriales, CHU Angers; 4: Fédération de génétique médicale, Service de génétique moléculaire du GH Necker-enfants malades, Hôpital Necker-Enfants Malades, Paris; 5: Laboratoire de Biochimie, Pôle BPP, CHU Paris Sud, Hôpital Bicêtre-le Kremlin Bicêtre, Paris; 6: Pôle de biologie et pathologie, CHU Bordeaux; 7: Unité fonctionnelle d’histologie moléculaire, Service de pathologie, CHU Bordeaux-GU Pellegrin, Bordeaux; 8: Service de biochimie et biologie moléculaire Grand Est, UM Maladies Héréditaires du Métabolisme, Centre de biologie et pathologie Est, CHU Lyon HCL, GH Est, Lyon; 9: Laboratoire de génétique, Hématologie et Immunologie, CHU Reims; 10: Laboratoire de génétique moléculaire: maladies héréditaires et oncologie, Service de biochimie, biologie moléculaire et toxicologie environnementale, CHU Grenoble et des Alpes, Institut de biologie et pathologie, Grenoble; 11: Service de biochimie, Pôle Biologie, Pharmacie et Hygiène, CHU Caen, Hôpital de la Côte de Nacre, Caen; 12: Laboratoire de Génétique Moléculaire, CHU Montpellier, PhyMedExp, Université de Montpellier, INSERM, CNRS, Montpellier; 13: Filnemus, Assistance Publique Hôpitaux Marseille, Service de Neurologie, Hôpital La Timone, Marseille

Multiomic mitochondrial and metabolic screening reveals potential biomarkers in inclusion body myositis

Judith Cantó Santos^1,2,3, Laura Valls Roca^1,2,3, Ester Tobías^1,2,3, Clara Oliva⁴, Francesc Josep García-García^1,2,3, Mariona Guitart Mampel^1,2,3, Félix Andújar Sánchez^1,2,3, Laia Farré Tarrats^1,2,3, Joan Padrosa^1,2,3, Raquel Aránega^1,2,3, Pedro J. Moreno Lozano^1,2,3, José César Milisenda^1,2,3, Rafael Artuch⁴, Josep M. Grau Junyent^1,2,3, Glòria Garrabou^1,2,3

1: Hereditary Metabolic Diseases and Muscular Diseases Lab, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) and Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain; 2: Department of Internal Medicine, Hospital Clinic of Barcelona, Barcelona, Spain; 3: CIBERER— Spanish Biomedical Research Centre in Rare Diseases, Madrid, Spain; 4: Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu; Esplugues de Llobregat, Barcelona, Spain

Network analysis of protein-protein interactions identifies intermediate filaments as a novel mitochondrial dynamics related structure

Irene M.G.M. Hemel, Carlijn Steen, Michiel Adriaens, Mike Gerards

Maastricht Centre for Systems Biology (MaCSBio), Maastricht University, The Netherlands

Establishment of mitochondrial proline metabolic disorder patient-derived induced pluripotent stem cells as a new cellular model for aging associated disease study

Yu-Wen Huang, Tsung-Han Lee, Dar-Shong Lin

Mackay Memorial Hospital, Taiwan

Mitochondrial disorders unraveled by NGS technologies

Yulia Itkis¹, Tatiana Krylova¹, Natalia Pechatnikova², Ekaterina Zakharova¹

1: Research centre for medical genetics, Russian Federation; 2: Morozov's Moscow City Child Clinical Hospital, Moscow, Russia

Incorporation of exogenous mitochondria into cells and their effects on the cells

Hisashi Ohta^1,2, Yosif El-Darawish^1,2, Masae Takeda^1,2, Takahiro Shibata^1,2, Keiichi Sakakibara^1,2, Rick Tsai¹, Masashi Suganuma¹

1: LUCA Science, Japan; 2: Biological Drug Development based DDS technology, Hokkaido Univ.

Mitochondrial encapsulation technology for mitochondrial transplantation therapy

Yonghui Wang^1,2, Oliver Koivisto^1,2, Chang Liu^1,2, Hongbo Zhang^1,2

1: Pharmaceutical Sciences Laboratory, Åbo Akademi University, Finland; 2: Turku Bioscience Centre, University of Turku and Åbo Akademi University

Inhibition of mtDNA transcription in liver reverses diet-induced obesity and hepatosteatosis in the mouse

Shan Jiang¹, Taolin Yuan¹, Laura Kremer¹, Florian Schober², Fynn Hansen², Diana Rubalcava-Gracia¹, Mara Mennuni¹, Roberta Filograna¹, David Alsina¹, Jelena Misic¹, Patrick Giavalisco³, Matthias Mann², Nils-Göran Larsson¹

1: Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Sweden; 2: Max-Planck Institute of Biochemistry, Martinsried, Germany; 3: Metabolomics Core Facility, Max Planck Institute for Biology of Ageing, Cologne, Germany

The mitochondrial phenotype of Leigh syndrome SURF1 mutant patient-derived fibroblasts and recovery using small molecules

Rachel M Hughes¹, Laura M Ellis¹, Naomi Hartopp¹, Emily Mossman¹, Gauri Bhosale², Annachiara Gandini², Alessandro Pristera², Christopher Doe², Scott P Allen¹, Oliver Bandmann¹, Laura Ferraiuolo¹, Pamela J Shaw¹, Heather J Mortiboys¹

1: Sheffield Institute for Translational Neuroscience, University of Sheffield, United Kingdom; 2: Nanna Therapeutics, Cambridge, United Kingdom

Knockout of Complex III subunit Uqcrh decreases respiratory capacity and impairs cardiac contractile function independent of mitochondrial ROS production

Nadine Spielmann^1,9, Christina Schenkl^2,9, Tímea Komlódi^3,4, Patricia da Silva-Buttkus¹, Estelle Heyne², Jana Rohde¹, Oana V. Amarie¹, Birgit Rathkolb^1,5,6, Erich Gnaiger³, Torsten Doenst², Helmut Fuchs¹, Valérie Gailus-Durner¹, Martin Hrabě de Angelis^1,6,7,9, Marten Szibor^2,8,9

1: Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Center Munich, German Research Center for Environmental Health, Germany; 2: Jena University Hospital, Friedrich-Schiller University of Jena, Germany; 3: Oroboros Instruments, Innsbruck, Austria; 4: Department of Biochemistry and Molecular Biology, Semmelweis University Budapest, Hungary; 5: Institute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians-Universität München, Germany; 6: Member of German Center for Diabetes Research (DZD), Germany; 7: Chair of Experimental Genetics Experimental Genetics, School of Life Science Weihenstephan, Technische Universität München, Germany; 8: BioMediTech & Tampere University Hospital, Faculty of Medicine and Health Technology, Tampere University, Finland; 9: Contributed equally

Molecular insights into the role of complex V deficiency in heart development, function and disease

Mario Pavez-Giani^1,2, Karen an der Brügge¹, Till Stephan⁴, Felix Lange⁴, Jakob Fell^1,2, Alessandro Prigione³, Stefan Jakobs⁴, Lukas Cyganek^1,2

1: Stem Cell Unit, Clinic for Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany; 2: German Center for Cardiovascular Research (DZHK), partner site Göttingen, Germany; 3: Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany; 4: Research Group Mitochondrial Structure and Dynamics, Department of NanoBiophotonics, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany

Establishing mammalian cell models for research of NDUFS1-associated diseases

Lena Jentsch¹, Laura Schröter², Natascia Ventura^1,2

1: Heinrich Heine University Düsseldorf, Germany; 2: IUF- Leibniz Research Institute for Environmental Medicine

A neuronal model of mtDNA disease reveals a compensatory reprogramming of the electron transfer chain during neuronal maturation

Shane Thomas Bell¹, Rebeca Acín-Pérez², Iffath Ghouri¹, Orian Shirihai², Robert Lightowlers¹, Oliver Russell¹

1: Wellcome Centre for Mitochondrial Research, Newcastle University, United Kingdom; 2: Metabolism Theme, David Geffen School of Medicine, University of California, Los Angeles (UCLA), CA, USA

Development of mutant mtDNA-targeted TALENs and their application to iPSC-based mitochondrial disease model.

Naoki Yahata, Ryuji Hata

Fujita Health University School of Medicine, Japan

Deficits in mitochondrial oxidative phosphorylation enhance SARS-CoV-2 replication

Yentli E. Soto Albrecht^1,2, Ryan Morrow¹, Arnold Olali¹, Devin Kenney^3,4, Prasanth Potluri¹, Deborah Murdock¹, Alessia Angelin¹, Florian Douam^3,4, Douglas C. Wallace^1,2

1: Children's Hospital of Philadelphia, USA; 2: University of Pennsylvania, USA; 3: Boston University, USA; 4: National Emerging Infectious Diseases Laboratories, Boston, USA

Metabolic analysis of mouse sarcopenic skeletal muscle identifies new strategies to increase lifespan in C. elegans

Steffi M Jonk¹, Vicki Chrysostomou², James R Tribble¹, Jonathan G Crowston^2,3,4, Peter Swoboda¹, Pete A Williams¹

1: Karolinska Institutet, Sweden; 2: Centre for Vision Research Duke-NUS & Singapore National Eye Centre, Singapore; 3: Save Sight Institute at the University of Sydney, Australia; 4: The University of Melbourne, Australia.

Delineating mitochondrial pathology using a genome-wide CRISPR/Cas9 activation screen

Yasmin Tang¹, Angela Pyle¹, Krutik Patel¹, Robert McFarland^1,2, Robert W. Taylor^1,2, Monika Oláhová¹

1: Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, NE2 4HH; 2: NHS Highly Specialised Rare Mitochondrial Disorders Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE2 4HH

Cancer and cellular senescence – two complementary stress models to study turnover and quality control of mitochondrial respiratory complexes.

Hanna Salmonowicz^1,2, Mahdi S Mahdi^1,2, Deepti Mudartha¹, Szymon Gorgon^1,2, Stadnik Dorota^1,2, Remigiusz Serwa^1,2, Karolina Szczepanowska^1,2

1: IMol Polish Academy of Sciences, Poland; 2: ReMedy International Research Agenda

Proteotoxicity induced mitochondrial integrated stress response in CHCHD10-linked adult-onset spinal muscular atrophy

Sandra Harjuhaahto¹, Bowen Hu¹, Jouni Kvist¹, Fuping Zhang^2,3, Tomas Zárybnický², Kimmo Haimilahti⁴, Eija Pirinen⁴, Emilia Kuuluvainen², Ville Hietakangas^2,5, Satu Kuure^2,3, Manu Jokela^6,7, Emil Ylikallio^1,8, Henna Tyynismaa¹

1: Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki; 2: Helsinki Institute of Life Science HiLIFE, University of Helsinki; 3: Genetically Modified Rodents Unit, Laboratory Animal Center, University of Helsinki; 4: Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki; 5: Faculty of Biological and Environmental Sciences, University of Helsinki; 6: Division of Clinical Neurosciences, Turku University Hospital and University of Turku; 7: Department of Neurology, Neuromuscular Research Center, Tampere University Hospital and Tampere University; 8: Clinical Neurosciences, Neurology, Helsinki University Hospital

Protective role of mitochondrial stress signaling and fragmentation in mitochondrial cardiomyopathy

Sofia Ahola, Lilli Pazurek, Fiona Mayer, Hendrik Nolte, Thomas Langer

Max Planck Institute for Biology of Ageing, Cologne, Germany

The Italian reappraisal on the most frequent genetic defects in hereditary optic neuropathies and the global top 10

Claudio Fiorini¹, Danara Ormanbekova¹, Flavia Palombo¹, Alberto Pasti¹, Michele Carbonelli², Giulia Amore², Martina Romagnoli², Pietro D'Agati², Maria Lucia Valentino^1,2, Piero Barboni³, Maria Lucia Cascavilla³, Anna Maria De Negri⁴, Federico Sadun⁵, Arturo Carta⁶, Francesco Testa⁷, Vittoria Petruzzella⁸, Silvana Guerriero⁸, Stefania Bianchi Marzoli⁹, Valerio Carelli^1,2, Chiara La Morgia^1,2, Leonardo Caporali²

1: IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 2: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 3: Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele, Milan, Italy; 4: Azienda Ospedaliera San Camillo-Forlanini, Rome, Italy; 5: Ospedale Oftalmico Roma, Rome, Italy; 6: Ophthalmology Unit, University Hospital of Parma, Parma, Italy; 7: Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy; 8: Department of Translational Biomedicine and Neuroscience (DiBraiN), University of Bari Aldo Moro, Bari, Italy; 9: Neuroophthalmology Service and Ocular Electrophysiology laboratory, Department of Ophthalmology, IRCCS Istituto Auxologico Italiano, Milan, Italy

Aberrant ER-mitochondria communication in human mitochondrial disease

Eric A. Schon¹, Khushbu Kabra¹, Patricia Morcillo¹, Delfina Larrea¹, Estela Area-Gomez^1,2, Orhan Akman¹

1: Columbia University, USA; 2: Centro de Investigaciones Biológicas “Margarita Salas”, Madrid, Spain

Mitochondrial F0F1-ATP synthase conditions the responsiveness of mitochondria to fission

Charlène Lhuissier¹, Julien Cassereau³, Valérie Desquiret-Dumas², Guy Lenaers¹, Naïg Gueguen², Arnaud Chevrollier¹

1: MITOVASC Université d'Angers, France; 2: Departments of Biochemistry and Molecular Biology, University Hospital Angers, Angers, France; 3: Laboratoire de Neurobiologie et Neuropathologie, Centre Hospitalier Universitaire d'Angers, Angers, France

A screening method for mitochondrial disorders by high-resolution respirometry

Kersti Tepp¹, Kairit Joost², Natalja Timohhina¹, Marju Puurand¹, Tuuli Kaambre¹

1: National Institute of Chemical Physics and Biophysics, Estonia; 2: Clinic of Internal Medicine, East-Tallinn Central Hospital, Estonia

AK3, adenylate kinase isozyme 3, is a new gene associated with PEO and multiple mtDNA deletions

Alessia Nasca¹, Andrea Legati¹, Teresa Ciavattini¹, Nadia Zanetti¹, Eleonora Lamantea¹, Javier Ramón², Ramon Martí², Maria Antonietta Maioli³, Costanza Lamperti¹, Holger Prokisch^4,5, Daniele Ghezzi^1,6

1: Fondazione IRCCS Istituto Neurologico Besta, Italy; 2: Vall d'Hebron Research Institute, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Autonomous University of Barcelona, Barcelona, Spain; 3: Centro Sclerosi Multipla, P.O. Binaghi, ASL Cagliari, Italy; 4: Technical University of Munich, School of Medicine, Institute of Human Genetics, 81675 Munich, Germany; 5: Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany; 6: Department of Pathophysiology and Transplantation (DEPT), University of Milan, Italy

Heterozygous missense variants in NUTF2 (nuclear transport factor 2) gene, mapping at the OPA8 locus, cause Dominant Optic Atrophy

Agnese Macaluso¹, Alessandra Maresca¹, Concetta Valentina Tropeano¹, Maria Antonietta Capristo¹, Flavia Palombo¹, Leonardo Caporali¹, Claudio Fiorini¹, Danara Ormanbekova¹, Chiara La Morgia¹, Piero Barboni^2,3, Cristina Villaverde^4,5, Carmen Ayuso^4,5, Maria Esther Gallardo^6,5, Majida Charif⁷, Sylvie Gerber⁸, Patrizia Amati-Bonneau⁷, Guy Lanaers^7,9, Jean-Michel Rozet⁷, Bernd Wissinger¹⁰, Valerio Carelli^1,11, Valentina Del Dotto¹¹

1: IRCCS - Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica - Bologna (Italy); 2: Studio Oculistico d'Azeglio - Bologna (Italy); 3: Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele - Milano (Italy); 4: Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM) - Madrid (Spain); 5: Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII - Madrid (Spain); 6: Grupo de investigación traslacional con células iPS, Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12), Madrid, Spain; Centro de Investigación Biomédica en Red (CIBERER) - Madrid (Spain); 7: Université d’Angers, MitoLab team, UMR CNRS 6015 - INSERM U1083, Unité MitoVasc - Angers (France); 8: Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University - Paris (France); 9: Departments of Biochemistry and Genetics, University Hospital Angers - Angers (France); 10: Molecular Genetics Laboratory, Institute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany; 11: Depart. of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna - Bologna (Italy)

Southern African paediatric patients with King Denborough syndrome are exclusively associated with an autosomal recessive STAC3 variant: is this a highly prevalent secondary mitochondrial disease in this African population?

Francois Hendrikus van der Westhuizen¹, Maryke Schoonen¹, Michelle Bisschoff¹, Ronel Human², Elsa Lubbe², Malebo Nonyane², Armand Vorster¹, Karin Terburgh¹, Robert McFarland³, Robert Taylor³, Mahmoud Fassad³, Krutik Patel³, Wilson Lindsay⁴, Michael Hanna⁴, Jana Vandrovcova⁴, The ICGNMD Consortium⁵, Izelle Smuts²

1: Human Metabolomics, North-West University, Potchefstroom, South Africa; 2: Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa; 3: Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; 4: Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; 5: https://www.ucl.ac.uk/genomic-medicine-neuromuscular-diseases/global-contributor-list

Long-read NGS for detection of mitochondrial DNA large-scale deletions and complex rearrangements

Chiara Frascarelli¹, Nadia Zanetti¹, Alessia Nasca¹, Rossella Izzo¹, Costanza Lamperti¹, Eleonora Lamantea¹, Daniele Ghezzi^1,2, Andrea Legati¹

1: Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy); 2: University of Milan (Milan, Italy)

Quantification of all 12 canonical ribonucleotides by real-time fluorogenic in vitro transcription

Janne Purhonen^1,2, Jukka Kallijarvi^1,2

1: Folkhalsan Research Center, Finland; 2: Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki

Quantifying mitochondrial proteome remodeling during macrophage polarization

Joan Blanco-Fernandez, Manfredo Quadroni, Alexis A. Jourdain

University of Lausanne, Switzerland

Mitochondrial injury in warm ischemia studied by high-resolution respirometry

Alba Timón-Gómez, Luiza HD Cardoso, Eleonora Baglivo, Carolina Doerrier, Erich Gnaiger

Oroboros Instruments GmBH, Austria

MitoCluster: integrated phenotyping and mouse model generation platform for mitochondrial disease and dysfunction

Micol Falabella¹, Patrick F. Chinnery², Laura C. Greaves³, Michael G. Hanna^1,4, Thomas M. Keane⁵, Robert McFarland³, Michal Minczuk², Owen J. Sansom^6,7, James B. Stewart³, Michelle Stewart⁸, Lydia Teboul⁸, Keira Turner², Jelle van den Ameele², Carlo Viscomi⁹, Sara Wells⁸, Alexander J. Whitworth², Robert D. S. Pitceathly^1,4

1: Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK; 2: Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge UK; 3: Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, UK; 4: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK; 5: European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK; 6: Cancer Research UK Beatson Institute, Glasgow, UK; 7: Institute of Cancer Sciences, University of Glasgow, Glasgow, UK; 8: Mary Lyon Centre MRC Harwell, UK; 9: University of Padua, Italy

Decoding the regulatory principles of mitochondrial DNA: packaging, expression, and impact on cellular metabolism

L. Stirling Churchman

Harvard Medical School, United States of America

Mechanisms of mitochondrial RNA biogenesis in health and disease

Hauke Hillen^1,2

1: Department of Cellular Biochemistry, University Medical Center Göttingen, Germany; 2: Research Group Structure and Function of Molecular Machines, Max-Planck-Institute for Multidisciplinary Sciences Göttingen, Germany

Disruption of mitochondrial function induces cell lineage-specific compensatory transcriptional responses during early embryonic development

Stephen P. Burr^1,2, Florian Klimm^1,2,3, Angelos Glynos^1,2, Malwina Prater^1,2,4, Maria Falkenberg⁵, Michal Minczuk², James B. Stewart^6,7, Patrick F Chinnery^1,2

1: Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; 2: Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; 3: Novo Nordisk Research Centre Oxford, Innovation Building, University of Oxford, Old Road Campus, Oxford, UK; 4: Functional Genomics Centre, Milner Therapeutics Institute, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK; 5: Department of Medical Biochemistry and Cell Biology, University of Gothenburg, PO Box 440, Gothenburg 405 30, Sweden; 6: Max Planck Institute for Biology of Ageing, Cologne, Germany; 7: Biosciences Institute, Faculty of Medical Sciences, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK

Single-cell multi-omics reveals dynamics of purifying selection of pathogenic mitochondrial DNA across human immune cells

Caleb A. Lareau^1,2,3,4,5, Sonia M. Dubois⁵, Frank A. Buquicchio¹, Yu-Hsin Hsieh^6,7, Kopal Garg^4,5, Pauline Kautz^6,7,8, Lena Nitsch^6,7,9, Samantha D. Praktiknjo^6,7, Patrick Maschmeyer^6,7, Jeffrey M. Verboon^4,5, Jacob C. Gutierrez¹, Yajie Yin¹, Evgenij Fiskin⁴, Wendy Luo⁴, Eleni Mimitou^10,17, Christoph Muus^4,11, Rhea Malhotra⁴, Sumit Parikh¹², Mark D. Fleming¹³, Lena Oevermann¹⁴, Johannes Schulte¹⁴, Cornelia Eckert¹⁴, Anshul Kundaje^3,15, Peter Smibert^10,18, Ansuman T. Satpathy^1,2, Aviv Regev^4,16,19, Vijay Sankaran^4,5, Suneet Agarwal⁵, Leif S. Ludwig^4,5,6,7

1: Department of Pathology, Stanford University, Stanford, CA 94305, USA; 2: Parker Institute of Cancer Immunotherapy, San Francisco, CA 94129, USA; 3: Department of Genetics, Stanford University, Stanford, CA 94305, USA; 4: Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; 5: Division of Hematology / Oncology, Boston Children’s Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA; 6: Berlin Institute of Health at Charité – Universitätsmedizin Berlin, Charitéplatz 1, 10117 Berlin, Germany; 7: Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin Institute for Medical Systems Biology (BIMSB), 10115 Berlin, Germany; 8: Institute of Biotechnology, Technische Universität Berlin, Berlin, Germany; 9: Department of Biology, Chemistry, Pharmacy, Freie Universität Berlin, Berlin, Germany; 10: Technology Innovation Lab, New York Genome Center, New York, NY 10013, USA; 11: Paulson School of Engineering and Applied Sciences, Harvard University, Cambridge, MA 02134, USA; 12: Center for Pediatric Neurosciences, Mitochondrial Medicine, Cleveland Clinic, Cleveland, OH 44195, USA; 13: Department of Pathology, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA; 14: Department of Pediatric Oncology, Charité-Universitätsmedizin Berlin, Campus Virchow Klinikum, 13353 Berlin, Germany; 15: Department of Computer Science, Stanford University, Stanford, CA 94305, USA; 16: Department of Biology and Koch Institute, Massachusetts Institute of Technology, Cambridge, MA 02139, USA; 17: Current address: Immunai, New York, NY 10114, USA; 18: Current address: 10x Genomics, San Francisco, CA 94111, USA; 19: Current address: Genentech, San Francisco, CA 94080, USA

Quantifying mitochondrial proteome remodeling during macrophage polarization

Joan Blanco-Fernandez, Manfredo Quadroni, Alexis A. Jourdain

University of Lausanne, Switzerland

Quantification of all 12 canonical ribonucleotides by real-time fluorogenic in vitro transcription

Janne Purhonen^1,2, Jukka Kallijarvi^1,2

1: Folkhalsan Research Center, Finland; 2: Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki

Long-read NGS for detection of mitochondrial DNA large-scale deletions and complex rearrangements

Chiara Frascarelli¹, Nadia Zanetti¹, Alessia Nasca¹, Rossella Izzo¹, Costanza Lamperti¹, Eleonora Lamantea¹, Daniele Ghezzi^1,2, Andrea Legati¹

1: Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy); 2: University of Milan (Milan, Italy)

Maintenance on mitochondrial complexes ensures bioenergetic function in differentiated cells

Ilka Wittig¹, Julian Heidler¹, Heiko Giese², Ralf P. Brandes¹

1: Institute for Cardiovascular Physiology, Goethe University Frankfurt, Germany; 2: Molecular Bioinformatics, Goethe University, Frankfurt, Germany

Investigating pathogenicity and tissue-specificity of mitochondrial aminoacyl-tRNA synthetase defects AARS2, EARS2 and RARS2 in neurons

Oliver Podmanicky, Fei Gao, Denisa Hathazi, Rita Horvath

Department of Clinical Neurosciences, University of Cambridge, United Kingdom

Mutations in Coq2 leads to severe developmental delay and early death in both zebrafish and mouse

Julia Corral-Sarasa¹, Sergio López-Herrador², Juan M. Martínez-Gálvez^1,3, Pilar González-García², Laura Jiménez-Sánchez¹, Mª Elena Díaz-Casado^1,2, Luis C. López^1,2

1: Ibs.Granada, Granada, Spain; 2: Physiology Department, Biomedical Research Center, University of Granada, Granada, Spain; 3: Biofisika Institute (CSIC,UPV-EHU) and Department of Biochemistry and Molecular Biology, University of Basque Country, Leioa, Spain

Pathogenic variants of the mitochondrial metallochaperone SCO1 result in a severe, combined COX and copper deficiency that causes a dilated cardiomyopathy in the murine heart.

Sampurna Ghosh¹, Scot C. Leary¹, Paul A. Cobine²

1: University of Saskatchewan, Canada; 2: Auburn University

Tissue-specific adaptation of stress responses upon COX10 deficiency

Lea Isermann^1,2, Milica Popovic^1,2, Ming Yang^1,2, Christian Frezza^1,2, Aleksandra Trifunovic^1,2

1: CECAD Research Center, Germany; 2: Institute for Mitochondrial Diseases and Aging, Medical Faculty, University of Cologne

Using iPSC-derived neurons to unravel the pathomechanisms of Leber’s hereditary optic neuropathy

Camille Peron¹, Alessandra Maresca², Angelo Iannielli^3,4, Alberto Danese⁵, Simone Patergnani⁵, Danara Ormanbekova², Andrea Cavaliere¹, Carlotta Giorgi⁵, Paolo Pinton^5,6, Vania Broccoli^3,4, Valerio Carelli^2,7, Valeria Tiranti¹

1: Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; 2: IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 3: Division of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), San Raffaele Scientific Institute, via Olgettina 60, 20132, Milan, Italy; 4: National Research Council (CNR), Institute of Neuroscience, Milan, Italy; 5: Department of Medical Sciences, Laboratory for Technologies of Advanced Therapies, University of Ferrara, 44121 Ferrara, Italy; 6: Maria Cecilia Hospital, GVM Care & Research, 48033, Cotignola, Ravenna, Italy; 7: Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy

Stem cell modelling of mitochondrial disease-linked cardiomyopathy

Ann E. Frazier^1,2, Yau Chung Low^1,2, Cameron L. McKnight^1,2, Linden Muellner-Wong^1,3, Hayley L. Pointer¹, Nikeisha Caruana³, Jordan J. Crameri³, Luke E. Formosa⁴, Yilin Kang³, Thomas D. Jackson³, Alison G. Compton^1,2,5, Michael T. Ryan⁴, Andrew G. Elefanty^1,2,6, Enzo R. Porrello^1,6,7,8, David A. Stroud^1,3,5, David A. Elliott^1,2,6,7, Diana Stojanovski³, David R. Thorburn^1,2,5

1: Murdoch Children’s Research Institute, The Royal Children's Hospital, Melbourne, VIC, Australia; 2: Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia; 3: Department of Biochemistry and Pharmacology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, Australia; 4: Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC, Australia; 5: Victorian Clinical Genetics Services, The Royal Children’s Hospital, Melbourne, VIC, Australia; 6: The Novo Nordisk Foundation Center for Stem Cell Medicine (reNEW), Murdoch Children's Research Institute, Melbourne, VIC, Australia; 7: Melbourne Centre for Cardiovascular Genomics and Regenerative Medicine, The Royal Children's Hospital, Melbourne, VIC, Australia; 8: Department of Anatomy and Physiology, School of Biomedical Sciences, The University of Melbourne, Melbourne, VIC, Australia

Biochemical and computational approaches to dissect the effect of MT-CYB pathogenic mutations on respiratory chain activity and assembly

Gaia Tioli, Francesco Musiani, Luisa Iommarini, Anna Maria Porcelli, Anna Maria Ghelli

Department of Pharmacy and Biotechnology, University of Bologna, Italy

Exploring the assembly and maintenance of mitochondrial complex I by complexome profiling-based approaches

Alfredo Cabrera-Orefice^1,2, Ilka Wittig¹

1: Institute for Cardiovascular Physiology, Goethe University Frankfurt, Germany; 2: Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands

Functional involvement of actin-binding Gelsolin on mitochondrial Oxphos dysfunction

María Illescas, Ana Peñas, Cristina Ugalde

Fundación Hospital 12 de Octubre, Spain

In vivo role of respiratory complex I NDUFA10 subunit in dNTP homeostasis

Andrea Férriz Gordillo¹, David Molina-Granada^1,2, Javier Ramón^1,2, Izaskun Izagirre-Urizar¹, Marina Singla-Manau¹, Maria Jesús Melià^1,2, Antoni Ruiz-Vicaria¹, Javier Torres-Torronteras^1,2, Mònica Zamora³, Michael T. Ryan⁴, Cristina Ugalde^2,5, Josep Antoni Villena⁶, Ramon Martí^1,2, Yolanda Cámara^1,2

1: Research Group on Neuromuscular and Mitochondrial Disorders, Vall d’Hebron Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain; 2: Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; 3: BCNatal | Fetal Medicine Research Center (Hospital Clínic and Hospital Sant Joan de Déu), University of Barcelona, Barcelona 08028, Spain. and Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona 08036, Spain.; 4: Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, Australia; 5: Instituto de Investigación, Hospital Universitario 12 de Octubre, Avda. de Córdoba s/n, 28041 Madrid, Spain.; 6: Laboratory of Metabolism and Obesity, Vall d'Hebron - Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain; CIBERDEM, CIBER on Diabetes and Associated Metabolic Diseases, Instituto de Salud Carlos III, Barcelona, Spain

Modeling POLRMT pathogenic variants in the mouse

David Alsina^1,2, Roberta Filograna^1,2, Rodolfo García-Villegas^1,2, Camilla Koolmeister^1,2, Nils-Göran Larsson^1,2,3

1: Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden; 2: Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Karolinska Institutet, Stockholm, Sweden; 3: Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden

The role of the CCR4 family member ANGEL1 in the expression of mitochondrial-targeted proteins

Kai Chang¹, Paula Clemente¹, Joyce Noble¹, Björn Reinius¹, Anna Wedell^1,2, Christoph Freyer^1,2, Anna Wredenberg^1,2

1: Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden; 2: Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden

Tissue-specific bioenergetics in mouse models of mitochondrial disease

Valeria Balmaceda¹, Timea Komoldi², Massimo Zeviani¹, Erich Gnaiger³, Anthony L. Moore⁴, Erika Fernandez Vizarra¹, Carlo Viscomi¹

1: Università di Padova; 2: Semmelweis University; 3: Universität Innsbruck; 4: University of Sussex

Yeast as a tool to investigate variants in mtARS genes associated with mitochondrial diseases

Sonia Figuccia¹, Camilla Ceccatelli Berti¹, Andrea Legati², Rossella Izzo², Alessia Nasca², Daniele Ghezzi^2,3, Paola Goffrini¹

1: Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy; 2: Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; 3: Department of Medical Physiopathology and Transplantation, University of Milan, Milan, Italy

A mutation in mouse mt-Atp6 gene induces respiration defects and opposed effects on the cell tumorigenic phenotype

Raquel Moreno-Loshuertos¹, Nieves Movilla¹, Joaquín Marco-Brualla², Ruth Soler-Agesta¹, Patricia Ferreira¹, José Antonio Enríquez³, Patricio Fernández-Silva¹

1: University of Zaragoza, Spain; 2: University of Zaragoza, Peaches Biotech Group, Spain; 3: Fundación Centro Nacional de Investigaciones Cardiovasculares Carlos III, Spain

A systemic Muscle-WAT crosstalk progressively depletes protein and fat stores aggravating mitochondrial myopathy.

Nneka Southwell¹, Guido Primiano³, Emelie Beattie¹, Nicola Rizzardi¹, Serenella Servidei³, Giovanni Manfredi¹, Qiuying Chen², Marilena D'Aurelio¹

1: Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY; 2: Weill Cornell Medicine, Department of Pharmacology, New York, NY; 3: Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy; Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy.

A novel mitochondrial assembly factor RTN4IP1 has an essential role in the final stages of Complex I assembly

Monika Oláhová^1,2, Jack J. Collier^1,3, Rachel M. Guerra⁴, Juliana Heidler⁵, Kyle Thompson¹, Robert N. Lightowlers¹, Zofia M.A. Chrzanowska-Lightowlers¹, Ilka Wittig⁵, David J. Pagliarini⁴, Robert W. Taylor¹

1: Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; 2: Department of Applied Sciences, Faculty of Health & Life Sciences, Northumbria University, Newcastle upon Tyne, UK; 3: Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, QC, Canada; 4: Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO 63110, USA; 5: Functional Proteomics Group, Institute for Cardiovascular Physiology, Goethe University Frankfurt, 60590, Frankfurt am Main, Germany

ETFDH supports OXPHOS efficiency in skeletal muscle by regulating coenzyme Q homeostasis

Beñat Salegi Ansa¹, Juan Cruz Herrero Martín¹, José M. Cuezva^1,2,3,4, Laura Formentini^1,2,3,4

1: Department of Molecular Biology, Centro de Biología Molecular "Severo Ochoa" (CBMSO-UAM-CSIC), Madrid, Spain; 2: Instituto Universitario de Biología Molecular (IUBM), Autonomous University of Madrid, Madrid, Spain; 3: Centro de Investigación Biomédica en red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; 4: Instituto de Investigación Hospital 12 de octubre, i+12, Universidad Autónoma de Madrid, Madrid, Spain

Metabolic rewiring as an adaptive mechanism in COX null cells

Guillermo Puertas-Frias^1,2, Kristýna Čunátová^1,2, Petr Pecina¹, Marek Vrbacký¹, Lukáš Alán¹, Tomáš Čajka³, Josef Houštěk¹, Tomáš Mráček¹, Alena Pecinová¹

1: Department of Bioenergetics, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic; 2: Faculty of Science, Charles University, 12800 Prague, Czech Republic; 3: Laboratory of Translational Metabolomics, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic

Metabolic rewiring due to progressive increase in mtDNA mutation heteroplasmy reveals markers of disease severity

Karin Terburgh¹, Marianne Venter¹, Jeremie Z Lindeque¹, Emi Ogasawara², Mirian C H Janssen³, Jan A M Smeitink³, Kazuto Nakada⁴, Roan Louw¹

1: North-West University, South Africa; 2: Osaka University, Japan; 3: Radboud University Medical Center, Netherlands; 4: University of Tsukuba, Japan

Novel or rare AIFM1 pathogenic variants: their impact on mitochondrial metabolism and clinical manifestation in eight patients, including 3 girls

Tereza Rakosnikova¹, Jan Kulhanek¹, Martin Reboun¹, Hana Stufkova¹, Lenka Dvorakova¹, Dagmar Grecmalova², Pavlina Plevova², Tomas Honzik¹, Hana Hansikova¹, Jiri Zeman¹, Marketa Tesarova¹

1: Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague; 2: Institute of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava

Pathological molecular mechanisms underlying COA8 loss of function

Kristyna Cunatova^1,2, Michele Brischigliaro^1,2, Alfredo Cabrera-Orefice³, Cinzia Franchin¹, Jimin Pei⁴, Marco Roverso⁵, Sara Bogialli⁵, Qian Cong⁴, Giorgio Arrigoni¹, Susanne Arnold^3,6, Carlo Viscomi^1,2, Massimo Zeviani^2,7, Erika Fernández-Vizarra^1,2

1: Department of Biomedical Sciences, University of Padova, Padova, Italy; 2: Veneto Institute of Molecular Medicine, Padova, Italy; 3: Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; 4: University of Texas Southwestern Medical Center, Dallas, TX, USA; 5: Department of Chemical Sciences, University of Padova, Padova, Italy; 6: Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany; 7: Department of Neurosciences, University of Padova, Padova, Italy

Retinal pathophysiology characterisation of the novel mitochondrial heteroplasmy mouse model

Lucia Luengo-Gutierrez¹, Keira Turner¹, James B Stewart², Patrick Yu-Wai-Man¹, Michal Minczuk¹

1: University of Cambridge, United Kingdom; 2: Newcastle University, United Kingdom

Impaired spermatogenesis driven by mitochondrial dysfunction and ferroptosis in primary spermatocytes in a mouse model of Leigh syndrome

Enrico Radaelli¹, Charles-Antoine Assenmacher¹, Esha Banerjee¹, Florence Manero², Salim Khiati³, Anais Girona³, Guillermo Lopez-Lluch⁴, Placido Navas⁴, Marco Spinazzi^3,5

1: University of Pennsylvania,USA; 2: University of Angers, SFR ICAT, SCIAM, 49000 Angers, France; 3: MITOLAB, University of Angers, INSERM U1083, France; 4: Pablo de Olavide University, Spain; 5: Neuromuscular Reference Center CHU Angers, France

Mitophagy dysfunction in mitochondrial myopathy and therapy by mitophagy activator CAP1902

Takayuki Mito¹, Amy E. Vincent², Julie Faitg², Kathleen Rodgers³, Kevin Gaffney³, Thomas G. McWilliams¹, Orian Shirihai⁴, Anu Suomalainen¹

1: STEMM Research Program, Biomedicum Helsinki, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 2: Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; 3: Department of Pharmacology, Center for Innovations in Brain Science, University of Arizona, Tucson, AZ, USA; 4: Department of Medicine, Endocrinology, and Department of Molecular and Medical Pharmacology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA

Mtfp1 controls oxidative phosphorylation and cell death in liver disease

Cecilia Patitucci¹, Juan Diego Hernández-Camacho¹, Elodie Vimont¹, Etienne Kornobis², Thibault Chaze³, Quentin Giai Gianetto^3,4, Mariette Matondo³, Anastasia Gazi⁵, Ivan Nemanyy⁶, Daniella Hock⁷, Erminia Donnarumma¹, Timothy Wai¹

1: Institut Pasteur, Mitochondrial Biology Group, CNRS UMR 3691, Université Paris Cité, Paris, France.; 2: Institut Pasteur, Biomics Technological Platform, Université Paris Cité, Paris, France.; 3: Institut Pasteur, Bioinformatics and Biostatistics Hub, Université Paris Cité, Paris, France.; 4: Institut Pasteur, Proteomics Core Facility, MSBio UtechS, UAR CNRS 2024, Université Paris Cité, Paris, France.; 5: Institut Pasteur Ultrastructural Bio Imaging, UTechS, Université Paris Cité, Paris, France.; 6: Platform for Metabolic Analyses, SFR Necker, INSERM US24/CNRS UMS 3633, Paris, France.; 7: Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Australia.

Non-canonical function of succinate dehydrogenase assembly factor 2 (SDHAF2) during OXPHOS dysfunction

Kugapreethan Roopasingam¹, Joanna Sacharz¹, Tegan Stait², Yau chung Low^2,3, Ann E. Frazier^2,3, David P. De souza⁴, David R. Thorburn^2,3,5, David A. Stroud^1,3,5

1: Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia; 2: Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia; 3: Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia; 4: Metabolomics Australia, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia; 5: Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, VIC, Australia

NUAK1-dependent metabolic underpinnings of adult muscle stem cells

Ha-My Ly, Caroline Brun, Géraldine Meyer-Dihet, Julien Courchet, Rémi Mounier

Physiopathology and Genetics of Neurons and Muscles Laboratory, Institut NeuroMyoGène, Lyon, France

A novel approach to measure complex V ATP hydrolysis in frozen cell lysates and tissue homogenates

Lucia Fernandez del Rio^1,2, Cristiane Benincá^1,2, Frankie Villalobos^1,2, Cynthia Shu^1,2, Linsey Stiles^1,2,3, Marc Liesa^1,2,4,5, Ajit S. Divakaruni^2,3, Rebeca Acin-Perez^1,2, Orian S. Shirihai^1,2,3,4

1: Department of Medicine, Endocrinology, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095 USA; 2: Metabolism Theme, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095, USA; 3: Department of Molecular and Medical Pharmacology, University of California, Los Angeles, CA, 90095, USA; 4: Molecular & Cellular Integrative Physiology, University of California, Los Angeles, CA, 90095, USA.; 5: Institut de Biologia Molecular de Barcelona, IBMB-CSIC, Barcelona, Catalonia, 08028, Spain

OxPhos defects cause cell-autonomous and whole-body signs of hypermetabolism in cells and in patients with mitochondrial diseases

Gabriel Sturm¹, Karan Kalpita¹, Anna S Monzel¹, Balaji Santhanam¹, Tanja Taivassalo², Céline Bris³, Atif Towheed¹, Albert Higgins-Chen⁴, Meagan McManus⁵, Andres Cardenas⁶, Jue Lin⁷, Elissa Epel⁷, Shamima Rahman⁸, Jon Vissing⁹, Bruno Grassi¹⁰, Morgan Levine¹¹, Steve Horvath¹¹, Ronald G Haller¹², Guy Lenaers³, Douglas C Wallace⁵, Marie-Pierre St-Onge¹, Saeed Tavasoie¹, Vincent Procaccio³, Brett A Kaufman¹³, Erin L Seifert¹⁴, Michio Hirano¹, Martin Picard¹

1: Columbia University Irving Medical Center, United States of America; 2: University of Florida, United States of America; 3: Angers University, UMR CNRS 6015 - INSERM U1083, MitoVasc Institute, Angers, France; 4: Yale University, United States of America; 5: University of Pennsylvania, United States of America; 6: Stanford University, United States of America; 7: University of California San Francisco, United States of America; 8: Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; 9: University of Copenhagen, Denmark; 10: University of Udine, Italy; 11: Altos labs, United States of America; 12: University of Texas Southwestern Medical Center, United States of America; 13: University of Pittsburgh, United States of America; 14: Thomas Jefferson University, United States of America

Dysfunction of mitochondrial chaperone HSP60 triggers disruption of mitochondrial pathways activating multiple regulatory responses

Cagla Cömert¹, Paula Fernandez-Guerra¹, Kasper Kjær-Sørensen², Jakob Hansen³, Jesper Just^4,5, Jasper Carlsen¹, Lisbeth Schmidt-Laursen², Johan Palmfeldt¹, Peter Bross¹

1: Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University, Aarhus, Denmark; 2: Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark; 3: Department of Forensic Medicine, Aarhus University, Aarhus, Denmark; 4: Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark; 5: Center of Functionally Integrative Neuroscience, Department of Clinical Medicine, Aarhus University, Aarhus, Denmark

Generation of iPSCs derived neural progenitors and cardiomyocytes as cellular models to study the pathophysiology of Pearson Syndrome

Chiara Fasano¹, Luca Sala^2,3, Camille Peron¹, Andrea Cavaliere¹, Maria Nicol Colombo¹, Valeria Tiranti¹

1: Unit of Medical genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; 2: Istituto Auxologico Italiano IRCCS, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy; 3: Department of Biotechnology and Biosciences, University of Milano - Bicocca, Milan, Italy

High aerobic exercise capacity predicts increased mitochondrial response to exercise training

Estelle Heyne¹, Susanne Zeeb¹, Luren G Koch², Steven L Britton³, Torsten Doenst¹, Michael Schwarzer¹

1: Department of Cardiothoracic Surgery, University Hospital of Friedrich-Schiller-University Jena, Germany; 2: Department of Physiology and Pharmacology, University of Toledo, Toledo, OH, United States; 3: Department of Anesthesiology, University of Michigan, Ann Arbor, MI, United States

Investigating the role of LONP1 in heart and skeletal muscle metabolism

Franziska Baumann¹, Dieu Hien Rozsivalova¹, Katharina Senft¹, Simon Geißen², Aleksandra Trifunovic³

1: Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), 50931 Cologne, Germany; 2: Department III of Internal Medicine, Heart Center, University Hospital of Cologne, 50931 Cologne, Germany; 3: Center for Molecular Medicine Cologne (CMMC), 50931 Cologne, Germany

Mitochondrial dysfunction promotes liver fibrosis through the ACOT2-MCT6-OXCT1 axis.

Xiaoshan Zhou¹, Sophie Curbo¹, Wei Wang², Xinling Li², Jingyi Yan¹, Yu Lei¹, Raoul Kuiper³, Ujjwal Noegi¹, Anna Karlsson¹

1: Karolinska Institutet, Sweden; 2: Zhengzhou University, China; 3: Norwegian Veterinary Institute, Norway

PNC2 (SLC25A36) deficiency associated with the hyperinsulinism/hyperammonemia syndrome

Francesco Massimo Lasorsa¹, Deborah Fratantonio², Maher A. Shahroor³, Vito Porcelli¹, Bassam Abu-Libdeh³, Orly Elpeleg⁴, Luigi Palmieri¹

1: Università degli Studi di Bari Aldo Moro, Italy; 2: Libera Università Mediterranea Giuseppe Degennaro, Italy; 3: Department of Pediatrics and Genetics, Al Makassed Hospital and Al-Quds University, Palestine.; 4: Department of Genetics, Hadassah, Hebrew University Medical Center, Israel

Cultured neurons with CoQ10 deficiency reveal alterations of lipid metabolism

Alba Pesini¹, Eliana Barriocanal-Casado¹, Giacomo Monzio-Compagnoni², Kleiner Giulio¹, Agustin Hidalgo-Gutierrez¹, Mohammed Bakkali³, Yashpal Singh Chhonker⁴, Saba Tadesse¹, Delfina Larrea¹, Daryl J Murry⁴, Caterina Mariotti⁵, Barbara Castellotti⁵, Luis Carlos Lopez³, Alesio Di Fonzo², Estela Area-Gomez¹, Catarina Quinzii¹

1: Department of Neurology, Columbia University Irving Medical Center, New York, NY, 10032, United States; 2: IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy; 3: Institute of Biotechnology, Biomedical Research Center (CIBM), Health Science Technological Park (PTS), University of Granada, Armilla, Granada, 18100, Spain; 4: Department of Pharmacy Practice and Science, College of Pharmacy, University of Nebraska Medical Center, 986145 Nebraska Medical Center, Omaha, NE; 5: Unita` di Genetica delle Malattie Neurodegenerative e Metaboliche, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, 20126, Italy

An engineered variant of MECR reductase reveals indispensability of long-chain acyl-ACPs for mitochondrial respiration

M. Tanvir Rahman¹, M. Kristian Koski², Joanna Panecka-Hofman^3,4, Werner Schmitz⁵, Alexander J. Kastaniotis¹, Rebecca C. Wade^4,6, Rik K. Wierenga¹, J. Kalervo Hiltunen¹, Kaija J. Autio¹

1: Faculty of Biochemistry and Molecular Medicine, University of Oulu, Finland; 2: Biocenter Oulu, University of Oulu, Oulu, Finland; 3: Faculty of Physics, University of Warsaw, Warsaw, Poland; 4: Molecular and Cellular Modeling Group, Heidelberg Institute for Theoretical Studies (HITS), Heidelberg, Germany; 5: Department of Biochemistry and Molecular Biology, University of Würzburg, Würzburg, Germany; 6: Zentrum für Molekulare Biologie (ZMBH), DKFZ-ZMBH Alliance and Interdisciplinary Center for Scientific Computing (IWR), Heidelberg University, Heidelberg, Germany

Antibiotics directly affect mitochondrial respiration

Judith Sailer¹, Sabine Schmitt², Hans Zischka^1,3, Erich Gnaiger²

1: Technische Universität München, Germany; 2: Oroboros Instruments GmbH, Innsbruck, Austria; 3: Helmholtz Zentrum München, Germany

Can transmission of mitochondria over the species barrier promote climate change adaptation?

Kateryna Gaertner¹, Craig Michell², Riikka Tapanainen², Steffi Goffart², Sina Saari¹, Manu Soininmäki², Eric Dufour¹, Jaakko Pohjoismäki²

1: Tampere University, Finland; 2: University of Eastern Finland

Developing an in vitro model to study the impact of the m.3243A>G mutation in iPSC-derived myofibers

Gabriel E. Valdebenito, Anitta R. Chacko, Michael R. Duchen

University College London, United Kingdom

Discordant phenotype in fibroblast cell lines generated from the same MELAS patient

Monica Moresco¹, Valentina Concetta Tropeano¹, Valentina Del Dotto², Mariantonietta Capristo¹, Claudio Fiorini¹, Danara Ormanbekova¹, Chiara La Morgia^1,2, Maria Lucia Valentino^1,2, Valerio Carelli^1,2, Alessandra Maresca¹

1: IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy; 2: Department of Biomedical and Neuromuscular Sciences (DIBINEM), University of Bologna

Generation of a novel CoQ deficient mouse model to elucidate the role of COQ4

Eliana Barriocanal Casado, Agustin Hidalgo-Gutierrez, Alba Pesini, Catarina M Quinzii

Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.

Perivascular adipose tissue remodeling impairs mitochondrial function in thermoneutral-housed rats

Amy C Keller¹, Melissa M Henckel¹, Leslie A Knaub¹, Greg B Pott¹, Georgia James², Jane E-B Reusch¹

1: University of Colorado/Rocky Mountain Regional VA Medical Center, United States of America; 2: Cornell College, United States of America

Temporal analysis of mitochondrial complexome profiling coupled to multi-omics analysis unveils implications of CIV remodelling in postnatal heart development

Milica Popovic, Aleksandra Trifunovic

University of Cologne, Germany

Mitochondrial dysfunction in immune cells leads to distinct transcriptome profile and improved immune competence in Drosophila

Yuliya Basikhina¹, Laura Vesala^1,2, Tea Tuomela¹, Emilia Siukola¹, Anssi Nurminen¹, Pedro F. Vale³, Tiina S. Salminen¹

1: Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland; 2: Department of Molecular Biology, Umeå University, Umeå, Sweden; 3: Institute of Evolutionary Biology, School of Biological Sciences, University of Edinburgh, United Kingdom

Molecular mechanisms of extraocular muscle manifestation in mitochondrial myopathy

Swagat Pradhan, Takayuki Mito, Thomas McWilliams, Nahid Khan, Anu Suomalainen

STEMM, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland

Redox metabolites and transporters: Differential expression and ratios in specific Ndufs4 knockout mice organs.

Jeremie Zander Lindeque, Marthinus Theodorus Jooste, Daneël Nel, Belinda Fouché, Marianne Venter

Human Metabolomics, North-West University, South Africa

What makes folding of a mitochondrial protein dependent on the HSP60/HSP10 chaperone complex?

Peter Bross, Cagla Cömert, Paula Fernandez-Guerra, Johan Palmfeldt

Aarhus University and Aarhus University Hospital, Denmark

OXPHOS composition is altered in the FXNI151F mouse model of Friedreich Ataxia in a progressive and a tissue-specific way

Maria Pazos-Gil, Marta Medina-Carbonero, Arabela Sanz-Alcázar, Marta Portillo-Carrasquer, Fabien Delaspre, Elisa Cabiscol, Joaquim Ros, Jordi Tamarit

Dept. Ciències Mèdiques Bàsiques, Fac. Medicina, Universitat de Lleida. IRB Lleida.

Disease causing-Mfn2 mutations alter mitochondrial fusion and fission dynamics and metabolism.

Daniel Lagos^1,2, Nicolas Perez², Pamela R. de Santiago², Diego Troncoso², Benjamin Cartes-Saavedra², Rita Horvath¹, Veronica Eisner²

1: Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK.; 2: School of Biological Sciences, Department of Cellular and Molecular Biology, Pontificia Universidad Catolica de Chile, Santiago, Chile.

Dissecting the mitochondrial disease-associated ATAD3 gene cluster and its pathogenic variants

Linden Muellner-Wong^1,2, Ann E. Frazier^2,3, Eric Hanssen⁴, Tegan Stait^2,3,5, Alice J. Sharpe⁶, Danielle L. Rudler^7,8,9, Shuai Nie¹⁰, Luke E. Formosa⁶, Michael T. Ryan⁶, Aleksandra Filipovska^7,8,9, David R. Thorburn^2,3,5, David A. Stroud^1,2,5

1: Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Victoria,Australia; 2: Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia; 3: Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia; 4: Ian Holmes Imaging Centre, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Melbourne, Victoria, Australia; 5: Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia; 6: Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, Victoria, Australia; 7: Harry Perkins Institute of Medical Research and The University of Western Australia Centre for Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia; 8: ARC Centre of Excellence in Synthetic Biology, QEII Medical Centre and University of Western Australia, Nedlands, Western Australia, Australia; 9: Telethon Kids Institute, Northern Entrance, Perth Children's Hospital, 15 Hospital Avenue, Nedlands, Western Australia, Australia; 10: Mass Spectrometry and Proteomics Facility, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Victoria, Australia

Dynamics of adenine nucleotides in colorectal cancer clinical material

Sten Miller^1,2, Leenu Reinsalu^1,2, Marju Puurand¹, Natalja Timohhina¹, Kersti Tepp¹, Igor Sevchuk¹, Indrek Reile¹, Heiki Vija¹, Vahur Valvere³, Jelena Bogovskaja³, Tuuli Käämbre¹

1: National Institute of Chemical Physics and Biophysics, Estonia; 2: Tallinn University of Technology, Estonia; 3: North Estonia Medical Centre

The role of SURF1 protein in cytochrome c oxidase biogenesis

Maria Jose Saucedo Rodriguez¹, Petr Pecina¹, Kristýna Čunátová¹, Marek Vrbacký¹, Alena Pecinová¹, Roman Sobotka², Carlo Viscomi³, Massimo Zeviani⁴, Tomáš Mráček¹, Josef Houštěk¹

1: Institute of Physiology of the Czech Academy of Sciences, Czech Republic; 2: Institute of Microbiology, Czech Academy of Sciences, Trebon, Czech Republic; 3: Departement of Biomedical Sciences, University of Padova, Padova, Italy; 4: Departement of Neurosciences, University of Padova, Padova, Italy

Depicting inclusion body myositis using a patient-derived fibroblast model

Judith Cantó Santos^1,2,3, Laura Valls Roca^1,2,3, Ester Tobías^1,2,3, Francesc Josep García García^1,2,3, Mariona Guitart Mampel^1,2,3, Félix Andújar Sánchez^1,2,3, Anna Esteve Codina^4,5, Beatriz Martín Mur⁴, Mercedes Casado^3,6, Rafael Artuch^3,6, Estel Solsona Vilarrasa^7,8, José Carlos Fernández Checa^7,8, Carmen García Ruiz^7,8, Carles Rentero⁹, Carlos Enrich⁹, Pedro Juan Moreno Lozano^1,2,3, José César Milisenda^1,2,3, Francesc Cardellach^1,2,3, Josep Maria Grau Junyent^1,2,3, Glòria Garrabou^1,2,3

1: Laboratory of Inherited Metabolic Disorders and Muscle Disease, Centre de Recerca Biomèdica CELLEX - Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) and Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain; 2: Department of Internal Medicine, Hospital Clinic of Barcelona, Barcelona, Spain; 3: CIBERER— Spanish Biomedical Research Centre in Rare Diseases, Madrid, Spain; 4: CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain; 5: Universitat Pompeu Fabra (UPF), Barcelona, Spain; 6: Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu; Esplugues de Llobregat, Barcelona, Spain; 7: Department of Cell Death and Proliferation, Institute of Biomedical Research of Barcelona (IIBB-CSIC), Liver Unit-HCB-IDIBAPS, Barcelona, Spain; 8: CIBEREHD-Spanish Biomedical Research Centre in Hepatic and Digestive Diseases, Madrid, Spain; 9: Department of Biomedicine, Cell Biology Unit, CELLEX-IDIBAPS, Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain

Effect of physiological cell culture media on cell viability and NRF2 activation

Anton Terasmaa, Rutt Taba, Marie Põlluaed, Tuuli Käämbre

National Institute of Chemical and Biological Physics, Estonia

Genetic and functional characterization of a new patient with COX4I1 deficiency

Frederic Tort¹, Olatz Ugarteburu¹, Gerard Muñoz-Pujol¹, María Unceta², Ainhoa García², Arantza Arza², Javier de las Heras², Antonia Ribes¹, Laura Gort¹

1: Hospital Clinic, IDIBAPS, CIBERER, Barcelona, Spain; 2: Hospital Universitario de Cruces, Spain

Application of the Escherichia coli Model System to Study the Human Polyribonucleotide Phosphorylase

Roberto Pizzoccheri, Federica Anna Falchi, Andrea Alloni, Francesca Forti, Sarah Sertic, Giulio Pavesi, Federica Briani

Università degli Studi di Milano, Italy

Phase two biotransformation is highly affected by mitochondrial disease: considerations for pharmacological therapies.

Marianne Venter, Belinda Fouché, Louis Mostert, Zander Lindeque, Rencia van der Sluis

Human Metabolomics, North-West University, South Africa

Mitochondrial phenotyping of fibroblasts from Kearns Sayre’s patients to model the disease

Laura Valls-Roca^1,2,3, Judith Cantó-Santos^1,2,3, Ester Tobías^1,2,3, Francesc Josep García-García^1,2,3, Félix Andújar-Sánchez^1,2, Laia Farré-Tarrats^1,2, Cristina Núñez de Arenas^3,6, Rocío Garrido-Moraga⁵, Joan Padrosa^1,2, Raquel Aránega^1,2, Pedro J. Moreno-Lozano^1,2,3, José César Milisenda^1,2, Mar O’Callaghan^3,4, Teresa García-Silva^3,5, Montserrat Morales-Conejo^3,5, Rafael Artuch^3,4, Miguel Ángel Martín^3,5, José M. Cuezva^3,6, Josep M. Grau-Junyent^1,2,3, Mariona Guitart-Mampel^1,2,3, Glòria Garrabou^1,2,3

1: Laboratory of Inherited Metabolic Disorders and Muscle Disease, Centre de Recerca Biomèdica CELLEX - Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences - Universitat de Barcelona (UB); Barcelona, Spain.; 2: Internal Medicine Department - Hospital Clínic de Barcelona; Barcelona, Spain.; 3: CIBERER—Spanish Biomedical Research Centre in Rare Diseases; Madrid, Spain.; 4: Hospital Sant Joan de Déu (HSJdD) de Barcelona, Barcelona, Spain.; 5: Grupo de Enfermedades Mitocondriales, Instituto de Investigación Hospital 12 de Octubre (imas12). Madrid. Spain.; 6: Centro de Biología Molecular S.O., Universidad Autónoma de Madrid (UAM); Madrid, Spain.

Effect of various mutations in the GTPase and middle domain of Drp1 on the mitochondrial network, nucleoids, and peroxisomes

Nikol Volfová¹, Aleš Hnízda¹, Lukáš Alán², Robert Dobrovolný¹, Jakub Sikora¹, Jana Křížová¹, Lucie Zdražilová¹, Hana Hansíková¹, Jiří Zeman¹, Markéta Tesařová¹

1: Department of Paediatrics and Inherited Metabolic Disorders, Charles University and General University Hospital in Prague, Prague, Czech Republic; 2: Institute of Physiology, The Czech Academy of Sciences, Prague, Czech Republic

Importance of human ClpXP protease for mitochondrial function

Daniela Burska, Jana Tesarova, Jana Krizova, Nikol Volfova, Hana Hansikova, Jiri Zeman, Lukas Stiburek

First Faculty of Medicine, Charles University; and General University Hospital in Prague

Ketogenic diet mitigates the pathogenic phenotype in TMEM70 deficient animal models

Aleksandra Marković¹, Petr Pecina¹, Alena Pecinová¹, Marek Vrbacký¹, Jana Mikešová¹, Hana Nuskova¹, Kateřina Tauchmannová¹, Otto Kučera³, Zuzana Cervinkova³, Radislav Sedláček², Josef Houštěk¹, Tomáš Mráček¹

1: Institute of Physiology of the Czech Acad. Sci., Prague, Czech Republic; 2: Institute of Molecular Genetics of the Czech Acad. Sci., Prague, Czech Republic; 3: Faculty of Medicine, Charles University, Hradec Kralove, Czech Republic

Mutation in Coq5 leads to CoQ10 deficiency, developmental delay and early death in zebrafish

Sergio López-Herrador¹, Julia Corral-Sarasa², Macarena Gil¹, Yaco Morillas¹, Luis C. López^1,2, Mª. Elena Díaz-Casado^1,2

1: Physiology Department, Biomedical Research Center, University of Granada, Granada, Spain; 2: Ibs.Granada, Granada, Spain

Omega-3 supplementation effects on mitochondrial and metabolic profile in a rabbit model of intrauterine growth restriction

Félix Andújar-Sánchez^1,2,3, Mariona Guitart-Mampel^1,2,3, Míriam Illa^3,4, Ester Tobías^1,2,3, Laura Valls-Roca^1,2,3, Judith Cantó-Santos^1,2,3, Laia Farré-Tarrats^1,2,3, Clara Oliva^3,5, Francesc Cardellach^1,2,3, Rafael Artuch^3,5, Fàtima Crispi^3,4, Glòria Garrabou^1,2,3, Francesc J García-García^1,2,3

1: Inherited metabolic diseases and muscular disorders Lab, Cellex - Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Science - University of Barcelona (UB), 08036 Barcelona, Spain; 2: Internal Medicine Unit, Medicine Department, Hospital Clínic of Barcelona, 08036 Barcelona, Spain; 3: Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain; 4: BCNatal—Barcelona Centre for Maternal-Foetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Déu), IDIBAPS, University of Barcelona, 08036 Barcelona, Spain; 5: Department of Clinical Biochemistry, Institut de Recerca de Sant Joan de Deu, Esplugues de Llobregat, 08036 Barcelona, Spain

Redundant and divergent roles of COQ8A and COQ8B in cell metabolism.

Agata Valentino¹, Elisa Baschiera¹, Iolanda Spera², Luna Laera², Valentina Giorgio³, Alessandra Castegna², Leonardo Salviati¹, Maria Andrea Desbats¹

1: Clinical Genetics Unit, Department of Women and Children’s Health, University of Padova and “Fondazione Istituto di Ricerca Pediatrica Città Della Speranza”, 35127 Padova, Italy.; 2: Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari Aldo Moro, 70121 Bari, Italy; 3: Department of Biomedical and Neuromotor Sciences, University of Bologna, I-40126 Bologna, Italy.

Loss of CHCHD8 (COA4) caused mitochondrial respiratory Complex IV deficiency

Taku Amo, Yuga Hikage

National Defense Academy, Japan

Delving into the phenotypic heterogeneity of Coenzyme Q biosynthesis defects

Ariadna Crespo-González¹, María del Mar Blanquer-Rosselló^1,2, Laura García-Corzo^1,2, Carmine Staiano^1,2, María Chacón¹, Ana Belén Cortés-Rodríguez³, Estefanía Sanabria-Reinoso¹, María Almuedo-Castillo¹, Miguel Ángel Moreno-Mateos^1,2, Gloria Brea-Calvo^1,2

1: Centro Andaluz de Biología del Desarrollo/Universidad Pablo de Olavide-CSIC-JA, Seville, Spain; 2: CIBERER, Instituto de Salud Carlos III, Madrid, Spain; 3: Laboratorio de Fisiopatología Celular y Bioenergética, Seville, Spain.

Investigating the impact of mtDNA point mutations on mitochondrial function and bioenergetics using patient fibroblasts and hiPSC derived neuronal models

Anitta Rose Chacko, Gabriel Esteban Valdebenito, Michael R Duchen

University College London, United Kingdom

Human COQ10A and COQ10B genes are essential for Coenzyme Q function in mitochondrial respiration

Elisa Baschiera¹, Carlo Viscomi¹, Maria Andrea Desbats², Placido Navas³, Leonardo Salviati^1,2

1: University of Padova, Italy; 2: Isituto di Ricerca Pediatrica - Cittá della Speranza, Italy; 3: Pablo de Olavide University, Sevilla, Spain

The use of β-RA in leptin-deficient mice reveals novel mechanisms of this compound for the treatment of obesity

Sara Torres-Rusillo¹, Sergio López-Herrador¹, Pilar González-García¹, Mª. Elena Díaz-Casado^1,2, Laura Jiménez-Sánchez², Julia Corral-Sarasa², Julio Ruiz-Travé¹, Luis C. López^1,2

1: Physiology Department, Biomedical Research Center, University of Granada, Granada, Spain; 2: Ibs.Granada, Granada, Spain

Oocyte-specific mitofusin 2 knockout enhances the metabolic disfunction of offspring born to obese mothers

Jaiane Santana da Paz, Angélica Camargo dos Santos, Lindomar Oliveira Alves, Julio Cesar Valerio Roncato, Renan Omete Ferreira, Victória Hass Gonçalves, Mirela Souza Cáceres, Marcos Roberto Chiaratti

Federal University of Sao Carlos, Brazil

Off-target effects of etomoxir: inhibition of mitochondrial Complex I and fatty acid oxidation

Timea Komlódi^1,2, Filomena SG Silva³, Ana I Duarte^3,4,5, Débora Mena^3,5,6, Luiz F Garcia-Souza¹, Marina Makrecka-Kuka⁷, Guida Bento³, Luís F Grilo^3,5,6, Paulo J Oliveira³, Erich Gnaiger¹

1: Oroboros Instruments, Innsbruck, Austria; 2: Dept Biochem, Semmelweis Univ, Budapest, Hungary; 3: CNC-Center Neurosci and Cell Biol, Univ Coimbra, Portugal; 4: IIUC-Inst Interdisciplinary Research, Univ Coimbra, Portugal; 5: CIBB-Center for Innovative Biomed Biotechnol, Univ Coimbra, Portugal; 6: PDBEB-PhD Programme in Exp Biol Biomed, IIUC, Univ Coimbra, Portugal; 7: Lab Pharmaceut Pharmacol, Latvian Inst Organic Synthesis, Riga, Latvia

Mitochondrial alterations in sirtuin1 heterozygous mice fed high fat diet and melatonin

Alessandra Stacchiotti^1,2, Francesca Arnaboldi¹, Gaia Favero³, Aleksandra Korac⁴, Maria Monsalve⁵, Rita Rezzani³

1: Dept Biomedical Sciences for Health, University of Milan, Milan, Italy; 2: Laboratorio Morfologia Umana Applicata, IRCCS Policlinico San Donato, Milan, Italy; 3: Dept Clinical and Experimental Sciences, University of Brescia, Brescia, Italy; 4: Center for Electron Microscopy, University of Belgrade, Belgrade, Serbia; 5: Instituto de Investigaciones Biomedicas “Alberto Sols” (CSIC-UAM), Madrid, Spain

Microproteins in metabolic regulation

Jiemin Nah¹, Baptiste Kerouanton¹, David Robinson², Kyle Dunlap³, Pooja Sridnivasan¹, Sonia Chothani¹, Greg Ducker³, Owen Rackham⁴, David Stroud², Lena Ho¹

1: Duke-NUS Medical School, Singapore; 2: University of Melbourne, Australia; 3: University of Utah, USA; 4: University of Southampton, UK

Oxphos deficiency indicates novel functions for the mitochondrial protein import subunit tim50

Jordan J Crameri¹, Catherine S Palmer¹, David Coman², David A Stroud¹, David R Thorburn^3,4,5, Ann E Frazier^3,4, Diana Stojanovski¹

1: Department of Biochemistry and Pharmacology and the Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, 3010, Australia; 2: Queensland Children’s Hospital, Department of Metabolic Medicine, South Brisbane, Brisbane, Queensland, 4001, Australia; 3: Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Victoria, 3052, Australia; 4: Department of Paediatrics, University of Melbourne, Melbourne, Victoria, 3052, Australia; 5: Victorian Clinical Genetics Services, Royal Children’s Hospital, Melbourne, Victoria, 3052, Australia

The levels and activation state of the pyruvate dehydrogenase complex modulate the SCAFI-dependent organization of the mitochondrial respiratory chain

Sandra Lopez-Calcerrada¹, Ana Sierra-Magro¹, Erika Fernández-Vizarra², Cristina Ugalde^1,3

1: Instituto de Investigación Hospital 12 de Octubre, Madrid 28041, Spain; 2: Department of Biomedical Sciences, University of Padova, 35131 Padova, Italy; 3: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723, Madrid, Spain

Development of a yeast model to characterize OPA1 mutations associated with different neuromuscular disorders

Cristina Calderan¹, Marco Marchi¹, Mara Doimo¹, Maria Andrea Desbats¹, Geppo Sartori², Leonardo Salviati¹

1: Clinical Genetics Unit, Department of Women’s and Children’s Health, University of Padua, and Istituto di Ricerca Pediatrica (IRP) Città della Speranza, Padua, Italy; 2: Department of Biomedical Sciences, University of Padua, Padua, Italy

An ultra-special family with an ultra-rare condition: three children with mithochondrial complex III deficiency due to homozygous mutations in Lyrm7

Francesca Manzoni, Titia Anita Wischmeijer, Elisa Boni, Lucio Parmeggiani, Andrea Bordugo, Francesca Pellegrini

Bolzano Hospital, Italy

Fuels and drivers of smouldering brain disease

Stefano Pluchino, Luca Peruzzotti-Jametti, Alexandra Nicaise

University of Cambridge, United Kingdom

Immunometabolisms at the crossroad between inflammation and aging

Maria Mittelbrunn

CSIC- Consejo Superior de Investigaciones Cientificas, Spain

Dissecting the role of type I interferon signaling in microglial response in a mouse model of mitochondrial disease

Melania González-Torres^1,2, Patrizia Bianchi¹, Patricia Prada-Dacasa¹, Joaquín Fernández-Irigoyen³, Enrique Santamaría³, Mariona Arberola⁴, Elisenda Sanz^1,2, Albert Quintana^1,2

1: Institute of Neurosciences, Autonomous University of Barcelona, Barcelona, Spain; 2: Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona, Barcelona, Spain; 3: Clinical Neuroproteomics Unit, Navarrabiomed, Complejo Hospitalario de Navarra (CHN), Universidad Pública de Navarra (UPNA), Pamplona, Spain; 4: Centro de Análisis Genómico, CNAG-CRG, Barcelona, Spain

The contribution of cell free-mitochondrial DNA in the pathogenesis of MELAS syndrome

Alessandra Maresca¹, Monica Moresco¹, Valentina Del Dotto², Concetta Valentina Tropeano¹, Mariantonietta Capristo¹, Claudio Fiorini¹, Danara Ormanbekova¹, Alessandro Rapone², Maria Lucia Valentino^1,2, Chiara La Morgia^1,2, Valerio Carelli^1,2

1: IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Italy; 2: Department of Biomedical and NeuroMotor Sciences, University of Bologna, Italy

A novel role for the mitochondrial topoisomerase TOP1MT in mediating mtDNA release and cGAS-STING activation

Iman Al Khatib¹, Yves Pommier², Phillip West³, William Gibson⁴, Tim Shutt¹

1: University of Calgary, Canada; 2: National Institutes of Health; 3: Texas A&M University; 4: University of British Columbia

Impaired inflammatory response to lipopolysaccharide in fibroblasts from patients with long-chain fatty acid oxidation disorders

Signe Mosegaard^1,2, Krishna Twayana³, Simone Denis¹, Jeffrey Kroon⁴, Bauke Schomakers⁵, Michel van Weeghel⁵, Riekelt Houtkooper¹, Rikke Olsen², Christian Holm³

1: Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; 2: Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University and Aarhus University Hospital, Aarhus, Denmark; 3: Department of Biomedicine, Aarhus Research Center for Innate Immunology, Aarhus University, Aarhus, Denmark; 4: Department of Experimental Vascular Medicine, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; 5: Core Facility Metabolomics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands

Fumarate induces mtDNA release via mitochondrial-derived vesicles and drives innate immunity

Vincent Paupe¹, Vincent Zecchini², Christian Frezza^2,3, Julien Prudent¹

1: Medical Research Council, MBU,University of Cambridge, UK; 2: Medical Research Council Cancer Unit,University of Cambridge, UK; 3: CECAD Research Centre, University of Cologne, Cologne, Germany

Free cytosolic-mitochondrial DNA triggers a potent type-I Interferon response in Kearns–Sayre patients counteracted by mofetil mycophenolate

Michela Di Nottia¹, Ivan Caiello², Alessandra Torraco¹, Martina Zoccola¹, Fabrizio De Benedetti², Carlo Dionisi-Vici³, Enrico Bertini⁴, Diego Martinelli³, Rosalba Carrozzo¹

1: Unit of Cellular Biology and Diagnosis of Mitochondrial Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; 2: Division of Rheumatology, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy; 3: Division of Metabolism, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy; 4: Research Unit of Muscular and Neurodegenerative Disorders, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

Destructuring of mitochondrial cristae in the initiation of CHCHD10-related neurodegeneration

Véronique Paquis-Flucklinger^1,2

1: IRCAN, UMR 7284/INSERM U1081/UCA, Nice, France; 2: Reference Center for mitochondrial diseases, Universitary hospital, Nice, France

Convergence of mitochondrial and lysosomal dysfunction in Parkinson’s disease

Lena F Burbulla

Ludwig Maximilian University (LMU) Munich, Germany

Development of cortical organoids to model m.3243A>G disease and understand cell specificity

Denisa Hathazi, Yu Nie, Camilla Lions, Juliane Müller, George Gibbons, Patrick Chinnery, Andras Lakatos, Rita Horvath

University of Cambridge, United Kingdom

Brain and brainstem-specific mitochondrial diversity associated with vulnerability to neurodegeneration in mitochondrial diseases

Anna S. Monzel¹, Masashi Fujita², Ayelet M. Rosenberg¹, Eugene V. Mosharov^3,6, Jack Devine¹, David A. Bennett^4,5, Vilas Menon², Philip L. De Jager², Martin Picard^1,6,7

1: Division of Behavioral Medicine, Department of Psychiatry, Columbia University Irving Medical Center, New York NY, USA; 2: Center for Translational & Computational Neuroimmunology, Department of Neurology and the Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University Irving Medical Center, New York NY, USA; 3: Division of Molecular Therapeutics, Department of Psychiatry, Columbia University Irving Medical Center, New York NY, USA; 4: Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA; 5: Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA; 6: New York State Psychiatric Institute, New York NY, USA; 7: Department of Neurology, Columbia University Irving Medical Center, New York NY, USA

Mitochondrial DNA mutations exacerbate motor and behavioural deficits in a mouse model of Parkinson’s disease

Michael J Keogh^1,2, Yu Nie^2,3, Zoe Golder^2,3, Malwina Prater^2,3, Nils-Goran Larsson⁴, Andrew Blamire^1,5, Chris Morris¹, Patrick F Chinnery^2,3

1: Clinical and Translational Research Institute, Centre for Life, Newcastle University, UK, NE3 1BZ; 2: Department of Clinical Neuroscience, University of Cambridge, UK, CB2 0QQ; 3: Medical Research Council Mitochondrial Biology Unit, University of Cambridge, UK, CB2 0QQ; 4: Division of Molecular Metabolism, Biomedicum, floor 9D, Solnavägen 9, Karlolinska Institute, 171 65 Stockholm, Sweden; 5: Newcastle Magnetic Resonance Centre, Campus for Ageing and Vitality, Newcastle University, NE4 5PL

Macromolecular crowding: A novel player in mitochondrial physiology and disease

Elianne P Bulthuis¹, Cindy EJ Dieteren¹, Jesper Bergmans¹, Job Berkhout¹, Jori A Wagenaars¹, Els MA van de Westerlo¹, Emina Podhumljak¹, Mark A Hink², Laura FB Hesp¹, Hannah S Rosa³, Afshan N Malik³, Mariska Kea-te Lindert¹, Peter HGM Willems¹, Han JGE Gardeniers⁴, Wouter K den Otter⁴, Merel JW Adjobo-Hermans¹, Werner JH Koopman^1,5

1: Radboud University Medical Center, The Netherlands; 2: University of Amsterdam, The Netherlands; 3: King's College, London, UK; 4: University of Twente, The Netherlands; 5: Wageningen University, The Netherlands

Preserved motor function and striatal innervation despite severe degeneration of dopamine neurons upon mitochondrial dysfunction

Thomas Paß¹, Roy Chowdury², Julien Prudent², Yu Nie³, Patrick Chinnery³, Markus Aswendt⁴, Heike Endepols⁵, Bernd Neumaier⁵, Trine Riemer⁶, Bent Brachvogel⁶, Rudi Wiesner⁷

1: Center for Physiology and Pathophysiology, Faculty of Medicine and University Hospital Cologne, Germany; 2: Medical Research Council Mitochondrial Biology Unit, University of Cambridge, UK; 3: Medical Research Council Mitochondrial Biology Unit and Department of Clinical Neurosciences, Cambridge Biomedical Campus, University of Cambridge, UK; 4: Department of Neurology, Faculty of Medicine and University Hospital Cologne, Germany; 5: Institute of Radiochemistry and Experiment Molecular Imaging, Faculty of Medicine and University Hospital of Cologne, Germany; 6: Department of Pediatrics and Adolescent Medicine, Experimental Neonatology, Faculty of Medicine and University Hospital Cologne, Germany; 7: Center for Physiology and Pathophysiology, Faculty of Medicine and University Hospital Cologne; Cologne Excellence Cluster on Cellular Stress Responses in Aging-associated Diseases (CECAD) and Center for Molecular Medicine Cologne, University of Cologne, Germany

The mitochondrial DNA depletion syndrome protein FBXL4 mediates the degradation of the mitophagy receptors BNIP3 and NIX to suppress mitophagy

Keri-Lyn Kozul¹, Giang Thanh Nguyen-Dien^1,2, Yi Cui¹, Prajakta Gosavi Kulkarni¹, Michele Pagano^3,4, Brett M. Collins⁵, Robert Taylor^6,7, Mathew J.K. Jones⁸, Julia K. Pagan^1,5,8

1: School of Biomedical Sciences, Faculty of Medicine, University of Queensland, Brisbane, Australia; 2: Department of Biotechnology, School of Biotechnology, Viet Nam National University-International University, Ho Chi Minh City, Vietnam; 3: Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, USA; 4: Perlmutter Cancer Center, New York University Grossman School of Medicine, New York, USA; 5: The University of Queensland, Institute for Molecular Bioscience, Brisbane, Australia; 6: Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; 7: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 8: The University of Queensland Diamantina Institute, Faculty of Medicine, The University of Queensland, Brisbane, Australia

Transcriptional regulation of mitochondrial stress responses

Aleksandra Trifunovic

University of Cologne, Germany

Mitochondrial DNA mutations in ageing and cancer - what's the connection?

Anna Smith¹, Julia Whitehall¹, Shivam Karadkar¹, Pedro Silva-Pinheiro², Conor Lawless¹, Michal Minczuk², Doug Turnbull¹, Owen Sansom³, Laura Greaves¹

1: Wellcome Centre for Mitochondrial Research, Newcastle University, United Kingdom; 2: MRC Mitochondrial Biology Unit, Cambridge, United Kingdom; 3: CRUK Beatson Institute, Glasgow, United Kingdom

Mitochondrial complex III deficiency drives c-MYC overexpression and illicit cell cycle entry leading to senescence and segmental progeria

Janne Purhonen^1,2, Rishi Banerjee^1,2, Vilma Wanne^1,2, Nina Sipari³, Matthias Mörgelin^4,5, Vineta Fellman^1,2,6,7, Jukka Kallijärvi^1,2

1: Folkhälsan Research Center, Finland; 2: Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Finland; 3: Viikki Metabolomics Unit, University of Helsinki, Finland; 4: Division of Infection Medicine, Department of Clinical Sciences, Lund University, Sweden; 5: Colzyx AB, Lund, Sweden; 6: Department of Clinical Sciences, Lund, Pediatrics, Lund University, Sweden; 7: Children’s Hospital, Helsinki University Hospital, Finland

A genetic deficiency screen in vivo reveals rescue mechanisms of mitochondrial dysfunction

Najla El Fissi¹, Florian Rosenberger², Kai Chang¹, Thomas Benedict Barton-Owen³, Zoe Golder³, Matthias Mann², Patrick Chinnery³, Anna Wedell¹, Christoph Freyer¹, Anna Wredenberg¹

1: Karolinska Institutet, Sweden; 2: Max-Planck Institute of Biochemistry, Germany; 3: University of Cambridge, Cambridge Biomedical Campus, UK

Heterochromatin Protein 1 controls gene expression and longevity in response to mitochondrial dysfunction

Patricia de la Cruz Ruiz¹, Hayat Heluani Gahete^1,2, María de los Angeles Ortega De La Torre², María Jesús Rodríguez Palero^1,2, Cristina Ayuso García¹, Shinya Ohta³, Peter Askjaer¹, Marta Artal-Sanz^1,2

1: Andalusian Centre for Developmental Biology (CABD). CSIC-Universidad Pablo de Olavide-Junta de Andalucía. Carretera de Utrera Km 1, 41013 Sevilla, Spain.; 2: Department of Molecular Biology and Biochemical Engineering, Universidad Pablo de Olavide. Carretera de Utrera Km 1, 41013 Seville, Spain; 3: Department of Biochemistry, Medical School, Kochi University, Kohasu, Oko-cho, Nankoku, Kochi 783-8505, Japan.

High fat diet ameliorates the mitochondrial cardiomyopathy of CHCHD10 mutant mice

Hibiki Kawamata, Nneka Southwell, Nicole Sayles, Giovanni Manfredi

Weill Cornell Medicine, United States of America

Functional characterisation of the human mitochondrial disaggregase, CLPB

Megan J Baker¹, Alexander J Anderson¹, Catherine S Palmer¹, David R Thorburn^2,3, Ann E Frazier², Diana Stojanovski¹

1: Department of Biochemistry and Pharmacology, The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville VIC 3010, Australia; 2: Murdoch Children’s Research Institute, Royal Children’s Hospital and Department of Paediatrics, The University of Melbourne, Parkville VIC 3052, Australia; 3: Victorian Clinical Genetics Services, Royal Children’s Hospital, Melbourne, Parkville VIC 3052, Australia

The mitochondrial inhibitor IF1 has a dual role in cancer

Martina Grandi¹, Cristina Gatto¹, Simone Fabbian², Natascia Tiso³, Francesco Argenton³, Massimo Bellanda², Giancarlo Solaini¹, Valentina Giorgio*¹, Alessandra Baracca*¹

1: Department of Biomedical and Neuromotor Sciences, University of Bologna; 2: Department of Chemical Science, University of Padova; 3: Department of Biology, University of Padova, Padova

Evaluating functional mobility and endurance in adults with Primary Mitochondrial Myopathy (PMM); insights concerning gait protocol and outcome measure selection.

Lisa Alcock^1,2, Alaa Abouhajar³, Theophile Bigirumurame⁴, Penny Bradley⁵, Philip Brown⁶, Laura Brown⁷, Ian Campbell⁵, Silvia Del Din^1,2, Julie Faitg⁷, Gavin Falkous⁷, Gráinne S. Gorman^2,7,8, Heather Hunter⁶, Rachel Lakey³, Robert McFarland^7,8, Jane Newman^2,7,8, Lynn Rochester^1,2,6, Vicky Ryan⁴, Hesther Smith⁵, Alison Steel³, Renae J. Stefanetti^2,7, Huizhong Su^2,7, Robert W. Taylor^2,7,8, Naomi J.P. Thomas^2,7,8, Helen Tuppen^2,7, Amy E. Vincent⁷, Charlotte Warren^2,7, Gillian Watson³

1: Translational and Clinical Research Institute, Newcastle University, UK; 2: National Institute for Health and Care Research (NIHR) Newcastle Biomedical Research Centre (BRC), Newcastle University and The Newcastle upon Tyne Hospitals NHS Foundation Trust, UK; 3: Newcastle Clinical Trials Unit, Newcastle University, UK; 4: Population Health Sciences Institute, Newcastle University, UK; 5: Pharmacy Directorate, The Newcastle upon Tyne Hospitals NHS Foundation Trust, UK; 6: The Newcastle upon Tyne Hospitals NHS Foundation Trust, UK; 7: Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, UK; 8: NHS Highly Specialised Service for Rare Mitochondrial Disorders, The Newcastle upon Tyne Hospitals NHS Foundation Trust, UK

Natural variability in protein expression of oxidative deficiency markers in single muscle fibres and tissue homogenate mitochondrial genetics in m.3243A>G-related myopathy

Tiago Bernardino Gomes^1,2, Charlotte Warren¹, Valeria Di Leo¹, Jordan Childs^1,3, Grainne Gorman^1,2, Doug M Turnbull¹, Amy E Vincent¹

1: Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; 2: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne, United Kingdom; 3: Centre for Doctoral Training in Cloud Computing and Big Data, Newcastle upon Tyne, United Kingdom

Retrospective natural history of mitochondrial deoxyguanosine kinase deficiency: a worldwide cohort of 197 patients

E. Manzoni^1,2, P. Gaignard³, L.D. Schlieben^4,5, S. Carli¹, M. Hirano⁶, D. Ronchi⁷, E. Gonzales⁸, M. Shimura⁹, K. Murayama⁹, Y. Okazaki¹⁰, I. Baric¹¹, D. Ramadza¹¹, D. Karall¹², J. Mayr¹³, D. Martinelli¹⁴, C. La Morgia^15,16, G.A. Primiano^17,18, R. Santer¹⁹, S. Servidei^17,18, C. Bris²⁰, A. Cano²¹, F. Furlan²², S. Gasperini²³, N. Laborde²⁴, C. Lamperti²⁵, D. Lenz²⁶, M. Mancuso²⁷, F. Menni²², O. Musumeci²⁸, V. Nesbitt²⁹, E. Procopio³⁰, C. Rouzier³¹, C. Staufner²⁶, J.W. Taanman³², G. Tal³³, C. Ticci³⁰, V. Carelli^15,16, V. Procaccio²⁰, H. Prokisch^4,5, C. Garone^1,2

1: Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna; 2: IRCCS Istituto delle Scienze Neurologiche, Neuropsichiatria dell’età pediatrica, Bologna; 3: Department of Biochemistry, Bicêtre Hospital, Reference Center for Mitochondrial Disease, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, France; 4: School of Medicine, Institute of Human Genetics, Technical University of Munich,Germany; 5: Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, Germany; 6: H. Houston Merritt Neuromuscular Research Center, Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA; 7: Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy; 8: Pediatric Hepatology and Pediatric Liver Transplantation Unit, Bicêtre Hospital, Reference Center for Mitochondrial Disease, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Paris, France; 9: Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba, 266-000, Japan; 10: Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Hongo 2-1-1, Bunkyo-ku, Tokyo, 113-8421, Japan; 11: Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia; 12: Clinic for Pediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria; 13: University Children's Hospital, Paracelsus Medical University (PMU), 5020 Salzburg, Austria; 14: Division of Metabolism, Bambino Gesù Children's Hospital IRCCS, Rome, Italy; 15: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 16: IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 17: Dipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; 18: Dipartimento Di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy.; 19: Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany; 20: MitoLab, UMR CNRS 6015 - INSERM U1083, MitoVasc Institute , Angers University Hospital, Angers, France; 21: Centre de référence des maladies héréditaires du métabolisme, CHU la Timone Enfants, Marseille, France; 22: Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Regional Clinical Center for expanded newborn screening, Milan, Italy; 23: Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy.; 24: Unité de Gastroentérologie, Hépatologie, Nutrition et Maladies Héréditaires du Métabolisme, Hôpital des Enfants, CHU de Toulouse, Toulouse, France; 25: Division of Medical Genetics and Neurogenetics, Fondazione IRCCS Neurological Institute "C. Besta", Milan, Italy; 26: Division of Neuropaediatrics and Paediatric Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany; 27: Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa & AOUP, Italy; 28: Unit of Neurology and Neuromuscular Disorders, Department of Clinical and experimental Medicine, University of Messina, Italy; 29: Department of Paediatrics, Medical Sciences Division, Oxford University, Oxford OX3 9DU, UK; 30: Metabolic Unit, Meyer Children's Hospital IRCCS, Florence, Italy; 31: Centre de référence des Maladies Mitochondriales, Service de Génétique Médicale, CHU de Nice, Université Côte d’Azur, CNRS, INSERM, IRCAN, Nice, France; 32: Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom; 33: Metabolic Clinic, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel

Tissue, molecular and metabolic changes in the liver of patients with Mitochondrial Neurogastrointestinal Encephalomyopathy

Elisa Boschetti¹, Leonardo Caporali¹, Irene Neri¹, Claudio Fiorini², Danara Ormanbekova², Valeria Righi³, Roberto D'Angelo², Carolina Malagelada⁴, Roberta Costa¹, Giovanna Cenacchi¹, Rita Rinaldi², Antonietta D'Errico⁵, Maria Lucia Tardio⁵, Stefano Ratti¹, Roberto De Giorgio⁶, Valerio Carelli^1,2, Lucia Manzoli¹

1: Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; 2: IRCCS Istituto delle Scienze Neurologiche di Bologna. Italy; 3: Department of Life Quality Studies (QuVI), University of Bologna, Bologna, Italy; 4: University Hospital Vall d'Hebron. Barcelona. Spain; 5: IRCCS St. Orsola. Bologna. Italy; 6: Department of Translational Medicine, University of Ferrara, Ferrara, Italy

Phenotyping mtDNA-related diseases in childhood: a cohort study of 150 patients

Anna Ardisssone, Giulia Ferrera, Costanza Lamperti, Valeria Tiranti, Daniele Ghezzi, Isabella Moroni, Eleonora Lamantea

Fondazione IRCCS Besta, Milan Italy

Carrier frequency of pathogenic and likely pathogenic variants in POLG in Eastern Norway

Linda Mathisen¹, Erle Kristensen^2,3, Siren Berland⁴, Helle Høyer⁵, Ying Sheng¹, Trine Prescott⁵, Shamima Rahman^6,7, Laurence A. Bindoff^3,8,9, Omar Hikmat^3,10

1: Department of Medical Genetics, Oslo University Hospital, Oslo, Norway; 2: Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway; 3: Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway; 4: Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway; 5: Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway; 6: Metabolic Unit, Great Ormond Street Hospital, London, UK.; 7: Mitochondrial Research Group, Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, London, UK.; 8: Department of Neurology, Haukeland University Hospital, Bergen, Norway; 9: Nasjonal kompetansetjeneste for medfødte stoffskiftesykdommer, Oslo University Hospital, Oslo, Norway; 10: Department of Pediatrics, Haukeland University Hospital, Bergen, Norway

Exercise testing and measurement of habitual physical activities in m.3243A>G-related Mitochondrial Disease

Renae J Stefanetti^1,2, Sarah J Charman¹, Alasdair P Blain¹, Alexandra Bright^1,2, Robert McFarland^1,2, Yi Shiau Ng^1,2, Gráinne S Gorman^1,2

1: Wellcome Centre for Mitochondrial Research. Clinical and Translational Research Institute. Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, United Kingdom; 2: NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle upon Tyne Hospitals NHS Foundation Trust

Leber’s hereditary optic neuropathy in females.

Giulia Amore¹, Martina Romagnoli², Michele Carbonelli¹, Chiara La Morgia^1,3, Valerio Carelli^1,2

1: Dipartimento di Scienze Biomediche e Neuromotorie, University of Bologna, Italy; 2: IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 3: IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy

Non-invasive tool for mitochondrial diseases diagnostics

Zuzana Korandová^1,2, Eliška Koňaříková¹, Petr Pecina¹, Alena Pecinová¹, Josef Houštěk¹, Hana Hansíková², Tomáš Honzík², Tomáš Mráček¹

1: Laboratory of Bioenergetics, Institute of Physiology of the Czech Academy of Sciences, Prague, Czech Republic; 2: 1st Faculty of medicine, Charles University, Prague, Czech Republic

Obstetric history of women with m.3243A>G – a retrospective cohort study

Petra Kuikka, Hilkka Nikkinen, Kari Majamaa, Mika Henrik Martikainen

University of Oulu and Oulu University Hospital, Finland

Clustering analysis with optical coherence tomography data in Leber hereditary optic neuropathy (LHON) patients by non-negative matrix factorization unsupervised learning technique

Martina Romagnoli¹, Michele Carbonelli², Giulia Amore², Pietro D’Agati³, Piero Barboni^4,5, Leonardo Caporali¹, Claudio Fiorini¹, Valerio Carelli^1,2, Chiara La Morgia^2,3

1: IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica - Bologna (Italy); 2: Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna - Bologna (Italy); 3: IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica - Bologna (Italy); 4: Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele – Milan (Italy); 5: Studio Oculistico d’Azeglio - Bologna (Italy)

Leigh syndrome global patient registry - cure mito foundation

Sophia Zilber¹, Kasey Woleben², Danielle Boyce³, Kevin Freiert⁴, Courtney Boggs⁵, Souad Messahel⁶, Melinda Burnworth⁷, Titilola Afolabi⁸, Saima Kayani⁹

1: Cure Mito Foundation, United States of America; 2: Cure Mito Foundation, United States of America; 3: Cure Mito Foundation, United States of America; Johns Hopkins University School of Medicine; 4: Cure Mito Foundation, United States of America; 5: Cure Mito Foundation, United States of America; 6: Perot Foundation Neuroscience Transla-tional Research Center (PNTRC), The University of Texas Southwestern Medical Center O'Donnell Brain Institute; 7: Midwestern University College of Pharmacy; 8: Midwestern University College of Pharmacy; 9: Cure Mito Foundation; The University of Texas Southwestern Medical Center

Mitochondrial ATP synthase deficiency and its relationship with the urea cycle

Barbara Siri¹, Diego Martinelli¹, Giorgia Olivieri¹, Sara Cairoli², Bianca Goffredo², Alessandra Torraco³, Rosalba Carrozzo³, Carlo Dionisi-Vici¹

1: Division of Metabolism, Department of Pediatric Subspecialties, Bambino Gesù Children's Hospital, Rome, Italy; 2: Laboratory of Metabolic Diseases, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy; 3: Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

Quantifying ataxia in adult patients with primary mitochondrial disease

Jane Newman^1,2,3,4, Lisa Alcock^2,4, Harry Ingledew¹, Silvia Del Din^2,4, Aye-Myat Moe^1,2,3,4, Yi Shiau Ng^1,2,3,4

1: Wellcome Centre for Mitochondrial Research, Newcastle University, United Kingdom; 2: NIHR Newcastle Biomedical Research Centre, Newcastle University; 3: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 4: Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK

Retrospective natural history study of MTRFR/C12orf65-related disorders

Catarina Olimpio¹, Emma Harrison², Chloe Seikus², Allison Moore³, Heather Biggs², Rita Horvath²

1: East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; 2: Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom (add-tr.mitoteam@nhs.net); 3: Hereditary Neuropathy Foundation, New York, NY, USA (https://www.hnf-cure.org/)

Correlation of mitochondrial respiration in platelets, peripheral blood mononuclear cells and muscle fibres

Emil Westerlund^1,2, Sigurður E. Marelsson^1,3, Michael Karlsson⁴, Fredrik Sjövall^1,5, Imen Chamkha¹, Eleonor Åsander Frostner¹, Johan Lundgren⁶, Vineta Fellman⁶, Erik A. Eklund⁶, Katarina Steding-Ehrenborg⁷, Niklas Darin⁸, Gesine Paul⁹, Magnus J. Hansson¹, Johannes K. Ehinger^1,10, Eskil Elmér¹

1: Lund University, Sweden; 2: A&E Department, Kungälv Hospital, Kungälv, Sweden; 3: Children's Medical Center, Landspitali-The National University Hospital of Iceland, Reykjavík, Iceland; 4: Department of Neurosurgery, Rigshospitalet, Copenhagen, Denmark; 5: Skåne University Hospital, Department of Intensive- and perioperative Care, Malmö, Sweden; 6: Department of Pediatrics, Skåne University Hospital, Lund University, Lund, Sweden; 7: Clinical Physiology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, Lund, Sweden; 8: Department of Pediatrics, The Queen Silvia Children’s Hospital, University of Gothenburg, Gothenburg, Sweden; 9: Lund University, Department of Clinical Sciences Lund, Translational Neurology Group and Wallenberg Center for Molecular Medicine, Lund, Sweden; 10: Lund University, Skåne University Hospital, Department of Clinical Sciences Lund, Otorhinolaryngology, Head and Neck Surgery, Lund, Sweden

Epidemiology and the natural history of POLG disease in Norway

Erle Kristensen^1,2, Linda Mathisen³, Siren Berland⁴, Claus Klingenberg^5,6, Eylert Brodtkorb^7,8, Magnhild Rasmussen^9,10, Trine Tangeraas¹¹, Yngve Thomas Bliksrud¹, Shamima Rahman^12,13, Laurence Bindoff^11,14, Omar Hikmat^2,15

1: Department of Medical Biochemistry, Oslo University Hospital, Norway; 2: Department of Clinical Medicine (K1), University of Bergen, Norway; 3: Department of Medical Genetics, Oslo University Hospital, Norway; 4: Department of Medical Genetics, Haukeland University Hospital, Norway; 5: Paediatric Research Group, Department of Clinical Medicine, UiT The Artic University of Norway, Norway; 6: Department of Paediatrics, University Hospital of North Norway, Norway; 7: Department of Neurology, St. Olav’s Hospital, University Hospital, Norway; 8: Department of Neuroscience and Movement Science, Faculty of Medicine, Norwegian University of Science and Technology, Norway; 9: Unit for Congenital and Hereditary Neuromuscular Conditions (EMAN), Department of Neurology, Oslo University Hospital, Norway; 10: Department of Clinical Neurosciences for Children, Oslo University Hospital, Norway; 11: Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Norway. European Reference Network for Hereditary Metabolic Disorders; 12: Metabolic Unit, Great Ormond Street Hospital, London, UK. European Reference Network for Hereditary Metabolic Disorders; 13: Mitochondrial Research Group, Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, UK; 14: Department of Neurology, Haukeland University Hospital, Norway; 15: Department of Pediatrics, Haukeland University Hospital, Norway

The evolving phenotypic profile of cardiomyopathy in patients with Barth syndrome

Carolyn Taylor¹, Hilary J. Vernon², Hani N. Sabbah³, David Brown⁴, Anthony Abbruscato⁴, Jim Carr⁴

1: Medical University of South Carolina, Charleston, SC, United States of America; 2: Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States of America; 3: Henry Ford Hospital, Detroit, MI, United States of America; 4: Stealth BioTherapeutics, Inc, Needham, MA, United States of America

True or false mitochondrial disorder?

Agnes Rotig^1,3, Giulia Barcia^1,2,3, Zahra Assouline^2,3, Arnold Munnich¹, Claire-Marine Dufeu-Bérat^2,3, Nathalie Boddaert^1,2, Manuel Schiff^1,3, Jean-Paul Bonnefont^1,2,3

1: INSERM UMR1163, Université Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France; 2: Departments of Pediatric and Genetics, Hôpital Necker-Enfants-Malades, Paris, France; 3: CARAMMEL reference center for mitochondrial diseases

An automated processing pipeline to perform probabilistic tractography of the anterior optic pathway applied to Leber’s hereditary optic neuropathy.

Giovanni Sighinolfi^1,2, Laura Ludovica Gramegna¹, Chiara La Morgia², Alessandro Carrozzi¹, Cristiana Fiscone^1,2, Claudia Testa^2,3, Raffaele Lodi^1,2, Valerio Carelli^1,2, Caterina Tonon^1,2, David Neil Manners¹

1: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 2: IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy; 3: Department of Physics and Astronomy, University of Bologna, Bologna, Italy

Natural history of Pearson syndrome: various clinical courses with changes in clinical phenotypes

Ayami Yoshimi¹, Sarah Grünert², Aron Fisch¹, Miriam Erlacher¹, Arndt Borkhardt³, Holger Cario⁴, Daniela Karall⁵, Charlotte Niemeyer¹

1: Department of Paediatrics and Adolescent Medicine, Division of Paediatric Haematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Germany; 2: Department of General Paediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, University Medical Center, University of Freiburg, Freiburg, Germany; 3: Department of Paediatric Oncology, Haematology and Clinical Immunology, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany; 4: Department of Paediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany; 5: Medical University of Innsbruck, Clinic for Paediatrics, Inherited Metabolic Disorders, Innsbruck, Austria

Phenotype and natural history of pantothenate kinase-associated neurodegeneration (PKAN)

Vassilena Iankova¹, Ivan Karin¹, Boriana Büchner¹, Thomas Klopstock^1,2,3

1: Department of Neurology With Friedrich Baur Institute, University Hospital of Ludwig-Maximilians-Universität München, Munich, Germany; 2: German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; 3: Munich Cluster for Systems Neurology, Munich, Germany

RARS2 disease’s morbidity and mortality correlate with the severity of brain involvement

R Restuccia^1,2, L Licchetta^3,4, S Resciniti¹, F Ferraresi¹, E Santi¹, L Di Vito^3,4, R Minardi⁴, E Ricci², V Di Pisa², F Palombo⁴, F Bisulli^3,4, DM Cordelli^1,2, P Tinuper^3,4, V Carelli^3,4, C Garone^1,2

1: Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna, Italy; 2: IRCCS Istituto delle Scienze Neurologiche di Bologna, Neuropsichiatria dell’età pediatrica, Bologna, Italy; 3: Dipartimento di Scienze Biomediche e Neuromotorie, Alma Mater Studiorum University of Bologna, Bologna, Italy; 4: IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy

A new non-invasive diagnostic method for detection of pathogenic mitochondrial DNA variants using faecal-derived DNA samples.

Charlotte Warren¹, Isabel Barrow^1,2, Helen Tuppen¹, Laura Brown¹, Clare Massarella¹, David Houghton¹, Laura Greaves¹, Robert McFarland^1,2, Gráinne Gorman^1,2

1: Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute; NIHR Newcastle Biomedical Research Centre, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; 2: Department of Neurosciences, NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne NE2 4HH, UK

Complex V assembly intermediates in human muscle from patient with suspected mitochondrial disease - Potential insights into disease mechanisms.

Amanda Lam^1,2,3, Robert Winter^1,2,3, Simon Heales^1,2,4

1: Neurometabolic Unit, NHNN, University College London Hospitals; 2: Chemical Pathology Laboratory, Great Ormond Street Hospital for Children; 3: Queen Square Institute of Neurology, University College London; 4: Great Ormond Street Institute of Child Health, University College London

Prolonged gastrointestinal transit times in mitochondrial disease – a case control study

Simone Rask Nielsen^1,2, Anne-Marie Wegeberg^2,3, Donghua Liao^2,3, Asbjørn Mohr Drewes^2,3, Inge Søkilde Pedersen^2,4, Anja Lisbeth Frederiksen^1,2, Christina Brock^2,3

1: Dept. of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark; 2: Dept.of Clinical Medicine, Aalborg University, Aalborg, Denmark; 3: Mech-Sense, Dept. of Gastroenterology, Aalborg University Hospital, Aalborg, Denmark; 4: Dept. of Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark

Rethinking mitochondrial diabetes: a multifaceted disease entity

Chiara Pizzamiglio^1,2, Niki Margari³, Iwona Skorupinska², Antonio Borges Neves³, Danna Nitzani³, Michael G. Hanna^1,2, Umasuthan Srirangalingam³, Robert D.S. Pitceathly^1,2

1: Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK; 2: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK; 3: Endocrinology Department, University College London Hospital, London, UK

Therapeutic intervention in Leber Hereditary Optic Neuropathy: later is better?

Martina Romagnoli¹, Giulia Amore², Pietro D’Agati³, Piero Barboni^4,5, Valerio Carelli^1,2, Chiara La Morgia^2,3, Michele Carbonelli²

1: IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica - Bologna (Italy); 2: Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna - Bologna (Italy); 3: IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica - Bologna (Italy); 4: Department ofOphthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele – Milan (Italy); 5: Studio Oculistico d’Azeglio - Bologna (Italy)

Neurofilament light chain – an emerging biomarker in mitochondrial disease

Alessandra Maresca¹, Valerio Carelli^1,2, Monica Moresco¹, Chiara La Morgia^1,2, Maria Lucia Valentino^1,2, Laurence Bindoff³, Kristin Varhaug^4,5

1: IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; 2: Department of Biomedical and Neuromotor Sciences, University of Bologna,; 3: Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway; 4: Dept. of Neurology, Haukeland University Hospital, Norway; 5: Neuro-SysMed - Centre of Excellence for Experimental Therapy in Neurology, Departments of Neurology and Clinical Medicine, Bergen, Norway

Assessing the role of mtdsRNA as a trigger for neuroinflammation in a mouse model of Leigh syndrome

Mònica Girona¹, Melania González-Torres¹, Patricia Prada-Dacasa¹, Patrizia Bianchi¹, Elisenda Sanz^1,2, Albert Quintana^1,2

1: Institute of Neurosciences, Autonomous University of Barcelona, Barcelona, Spain; 2: Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona, Barcelona, Spain

Concerted cell-specific neuronal programs drive neurodegeneration in Leigh Syndrome

Albert Quintana

Universitat Autònoma de Barcelona, Spain

Parkinson’s disease genes converge at the mitochondria-lysosome interface to promote inflammatory cell death

Jack Collier, Mai Nguyen, Sidong Huang, Heidi McBride

McGill University, Canada

[18F]ROStrace PET as a biomarker of mitochondria-induced neuroinflammation in the prodromal phase of Parkinson’s disease mouse models

Yi Zhu¹, Anthony Young², Neha Kohli¹, Josh Jose¹, Nisha Patel¹, Hsaioju Lee², Shihong Li², Guilong Tian², Eric Marsh¹, Michael Robinson¹, Robert Doot², Douglas Wallace¹, Robert Mach², Meagan Joy McManus¹

1: Children's Hospital of Philadelphia, United States of America; 2: University of Pennsylvania, United States of America

Modulation of immune cell activation and differentiation by mitochondrial nicotinamide adenine dinucleotide levels

Aurea Oliva Herrero^1,2, Andrea Alonso Gomez^1,2, Javier Traba^1,2

1: Instituto Universitario de Biología Molecular – UAM (IUBM-UAM), Departamento de Biología Molecular, Universidad Autónoma de Madrid, 28049 Madrid, Spain; 2: Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas - Universidad Autónoma de Madrid (CSIC-UAM), 28049 Madrid, Spain

MtDNA replication stress and innate immune signalling

Dusanka Milenkovic, Amir Bahat, Eileen Cors, Mabel Barnett, Thomas Langer

Max Planck Institute for Biology of Ageing, Germany

Inflammatory cardiomyopathy and heart failure caused by impaired inner membrane integrity

Erminia Donnarumma¹, Michael Kohlhaas², Elodie Vimont¹, Marcio Ribeiro¹, Etienne Kornobis³, Thibault Chaze⁴, Mariette Matondo⁴, Christoph Maack², Timothy Wai¹

1: Institut Pasteur, Mitochondrial Biology Group, CNRS UMR 3691, Université Paris Cité, Paris, France; 2: Department of Translational Research, Comprehensive Heart Failure Center (CHFC), Medical Clinic 1, University ClinicWürzburg,Würzburg, Germany; 3: Institut Pasteur, Biomics Technological Platform, Université Paris Cité, Paris, France; 4: Institut Pasteur, Proteomics Core Facility, MSBio UtechS, UAR CNRS 2024, Université Paris Cité, Paris, France

Lack of SIRT3 results in a constitutive IFNbeta release and protects against viral infection

Carolina Meroño Ortega^1,2, Yara Cuesta Valero^1,2, Marta Pascual Fernández^1,2, Natalia García Acosta^1,2, Javier Traba Domínguez^1,2

1: Instituto Universitario de Biología Molecular – UAM (IUBM-UAM), Departamento de Biología Molecular, Universidad Autónoma de Madrid, 28049 Madrid, Spain; 2: Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas - Universidad Autónoma de Madrid (CSIC-UAM), 28049 Madrid, Spain

Mitochondrial DNA variation alters cell-mediated and humoral innate immune responses

Tiina Susanna Salminen¹, Laura Vesala¹, Yuliya Basikhina¹, Megan Kutzer², Tea Tuomela¹, Katy Monteith², Ryan Lucas², Arun Prakash², Pedro Vale²

1: Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland; 2: Institute of Evolutionary Biology, School of Biological Sciences, University of Edinburgh, UK

Iron homeostasis in mitochondria is critical for the survival of T cells

Ajay Kumar, Chenxian Yee, Afia Nkansah, Thomas Decoville, Emily Yarosz, Garrett Forgo, Young-Ah Seo, Thomas Sanderson, Cheong-Hee Chang

University of Michigan, United States of America

Inflammatory conditions, redox status and c-miRNAs as potential predictors of vascular damage in type 2 diabetes mellitus patients.

Iryna Rusanova Rusanova^1,2,3, Ayauly Duisenbek⁴, Gabriela C. Lopez-Armas⁵, José M. Aguilar Benítez⁶, María D. Avilés-Pérez^3,7, Arailym Yessenbekova⁴, Nurzhanyat Ablaikhanova⁴, Germaine Escames^2,3,8, Darío Acuña-Castroviejo^2,3,8

1: Department of Biochemistry and Molecular Biology I, Faculty of Science, University of Granada, Spain; 2: Institute of Biotechnology, Biomedical Research Center, Health Sciences Technology Park, University of Granada, Granada, Spain; 3: Centro de Investigación Biomédica en Red Fragilidad y Envejecimiento Saludable (CIBERFES), Instituto de Investigación Biosanitaria (Ibs), Granada, San Cecilio University Hospital, Granada, Spain; 4: Department of Biophysics, Biomedicine and Neuroscience, Al-Farabi Kazakh National University, Almaty, Kazakhstan; 5: Departamento de Investigación y Extensión, Centro de Enseñanza Técnica Industrial; Guadalajara, Jalisco, México; 6: Hospital de Alcalá la Real, Andalucia, Spain; 7: Endocrinology and Nutrition Unit, Instituto de Investigación Biosanitaria de Granada (Ibs.GRANADA), University Hospital Clínico San Cecilio, Granada, Spain.; 8: Department of Physiology, Faculty of Medicine, University of Granada.

Loss of pathogenic mitochondrial tRNA mutations during the development of adaptive immune responses

Jingdian Zhang^1,2, Camilla Koolmeister^1,2, Jinming Han³, Roberta Filograna^1,2, Martin Engvall⁴, Anna Wredenberg^1,2,4, Gunilla B. Karlsson Hedestam⁵, Xaquin Castro Dopico⁵, Joanna Rorbach^1,2

1: Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm 17165, Sweden; 2: Max Planck Institute Biology of Ageing-Karolinska Institutet Laboratory, Karolinska Institutet, Stockholm 17165, Sweden.; 3: Applied Immunology and Immunotherapy, Department of Clinical Neuroscience, Center for Molecular Medicine, Karolinska University Hospital, Stockholm 17176, Sweden; 4: Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm 17164, Sweden.; 5: Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm 17177, Sweden.

Role of mitochondrial dynamics in abdominal aortic aneurysm

Alexis Richard¹, Alicia Baptista-Vicente¹, Maroua Eid^1,2, Agnès Toutain-Barbelivien¹, Linda Grimaud¹, Bertrand Toutain¹, Clément Tetaud¹, Daniel Henrion¹, Olivier Fouquet^1,2, Laurent Loufrani¹

1: UMR CNRS 6015, INSERM U1083, MitoVasc Institute, CarMe Team, University of Angers, France; 2: CHU of Angers, France

Between benefit and harm – the effect of antibiotics-induced mitochondrial stress on innate immune responses

Tilman Tietz, Laura Vesala, Tea Tuomela, Mahmudul H. Tanvir, Tiina S. Salminen

Tampere University, Finland

Mitochondrial thermo-profiles of diverse cell lines show reduction of thermo-stability at pathophysiological conditions

Mügen Terzioglu¹, Kristo Veeroja¹, Toni Montanen¹, Maria Carretero-Junquera², Tiina Susanna Salminen¹, Takeharu Nagai³, Howard Jacobs¹

1: Tampere University, Finland; 2: University of Copenhagen; 3: Osaka University

Mitochondrial thermogenesis and thermal adaptation in fibroblasts

Kateryna Gaertner¹, Mügen Terzioglu¹, Riikka Tapanainen², Jaakko Pohjoismäki², Eric Dufour¹, Sina Saari¹

1: Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland; 2: Department of Environmental and Biological Sciences, University of Eastern Finland, Joensuu, Finland

Effects of SIRT1 modulators in a pregnancy-induced mouse model of primary mitochondrial cardiomyopathy

Nicole M. Sayles^1,2, Gabriella Casalena², Holly E. Holmes³, Ryan W. Dellinger³, Hibiki Kawamata², Giovanni Manfredi²

1: Neuroscience Graduate Program, Will Cornell Graduate School of Medical Sciences, 1300 York Ave, New York, NY 10065, USA; 2: Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, 407 East 61st Street, New York, NY 10065, USA.; 3: Elysium Health New York, New York, NY 10013, USA

A common genetic variant of a mitochondrial RNA processing enzyme predisposes to insulin resistance

Giulia Rossetti^1,2,3, Judith Ermer^1,2,3, Maike Stentenbach^1,2,3, Stefan Siira^1,2,3, Tara Richman^1,2,3, Dusanka Milenkovic⁴, Kara Perks^1,2,3, Laetitia Hughes^1,2,3, Emma Jamieson⁵, Gulibaikelamu Xiafukaiti⁶, Natalie Ward⁷, Satoru Takahashi⁶, Nicola Gray⁸, Helena Viola⁹, Livia Hool^9,10, Oliver Rackham^1,2,11,12, Aleksandra Filipovska^1,2,3,13,

1: Harry Perkins Institute of Medical Research, Nedlands, Western Australia 6009, Australia; 2: ARC Centre of Excellence in Synthetic Biology, QEII Medical Centre, Nedlands, Western Australia 6009, Australia; 3: Centre for Medical Research, The University of Western Australia, QEII Medical Centre, Nedlands, Western Australia 6009, Australia.; 4: Max Planck Institute for Biology of Ageing, D-50931 Cologne, Germany; 5: Faculty of Health and Medical Sciences, Medical School, The Rural Clinical School of Western Australia, The University of Western Australia, Bunbury, Western Australia 6230, Australia; 6: Department of Anatomy and Embryology, Faculty of Medicine, Laboratory Animal Resource Center (LARC), and Transborder Medical Research Center, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki 305-8575, Japan; 7: Dobney Hypertension Centre, Medical School, The University of Western Australia, Perth, Western Australia, Australia; 8: Australian National Phenome Centre, Centre for Computational and Systems Medicine, Health Futures Institute, Murdoch University, Harry Perkins Building, Perth, Western Australia 6150, Australia; 9: School of Human Sciences (Physiology), The University of Western Australia, Crawley, Western Australia 6009, Australia.; 10: Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales 2010, Australia.; 11: Curtin Medical School, Curtin University, Bentley, Western Australia 6102, Australia; 12: Curtin Health Innovation Research Institute, Curtin University, Bentley, Western Australia 6102, Australia.; 13: Telethon Kids Institute, Northern Entrance, Perth Children's Hospital, 15 Hospital Avenue, Nedlands, Western Australia, Australia.

Metformin enhanced the Effect of Ketogenic Diet and low Dose of Cyclophosphamide in MYCN-amplified Neuroblastoma

Luca Catalano¹, Sepideh Aminzadeh-Gohari¹, Daniela Weber¹, Julia Tevini¹, Thapa Maheshwor², Rodolphe Poupardin³, Sophia Derdak⁴, Victoria Stefan¹, William Smiles¹, Barbara Kofler¹

1: Paracelsus Medical University, Austria; 2: Shuzhao Li Lab The Jackson Laboratory for Genomic Medicine, Farmington, USA; 3: Spinal Cord Injury and Tissue Regeneration Center Salzburg (SCI-TReCS), Cell Therapy Institute; 4: Core Facilities, Medical University of Vienna, Vienna, Austria

Respiratory complex I deficiency triggers integrated stress response upon metabolic challenge

Sara Milioni^1,2, Manuela Sollazzo¹, Claudia Zanna³, Ivana Kurelac², Monica De Luise², Luigi D'Angelo¹, Erika Fernandez-Vizarra⁴, Anna Ghelli¹, Giuseppe Gasparre², Anna Maria Porcelli¹, Luisa Iommarini¹

1: University of Bologna, Department of Pharmacy and Biotechnology, Italy; 2: University of Bologna, Department of Medical and Surgical Sciences, Italy; 3: University of Bologna, Department of Biomedical and Neuromotor Sciences, Italy; 4: University of Padua, Department of Biomedical Sciences, Italy

Stress responses in a novel mitochondrial myopathy mouse model

Sukru Anil Dogan

Bogazici University, Turkey

The multifaceted role of GDF15 in mitochondrial muscle disease and its synergistic action with FGF21

Anastasiia Marmyleva¹, Nahid Khan¹, Liliya Euro^1,2, Sonja Jansson^1,2, Harding Luan³, Anu Suomalanen^1,2

1: University of Helsinki, Finland; 2: Nadmed Ltd, Helsinki, Finland; 3: NGM Biopharmaceuticals, South San Francisco, CA 94080, USA

Red 630 light transcranial LED therapy (RL-TCLT) stimulates bioenergetic mitochondrial function, enhancing neuronal arborization and reducing hippocampal memory loss in aged SAMP8 mice.

Claudia Jara¹, Italo Fuentes¹, Matías Lira^1,2, Debora Buendía³, Cheril Tapia-Rojas^1,2

1: Neurobiology of Aging Lab, CEBICEM, Universidad San Sebastián, Chile; 2: Centro Ciencia & Vida, Fundación Ciencia & Vida, Chile.; 3: Escuela de Ingeniería Civil Biomédica, Universidad de Valparaíso, Chile.

The mitokine GDF15 correlates with differentially dietary fat intake in pregnancies with intrauterine growth restriction

Mariona Guitart-Mampel^1,2,3, Sara Castro-Barquero⁴, Ana María Ruiz-Leon⁵, Judith Cantó-Santos^1,2,3, Laura Valls-Roca^1,2,3, Laia Farré-Tarrats^1,2,3, Félix Andújar-Sánchez^1,2,3, Lina Youssef^3,4, Laura Garcia-Otero^3,4, Kilian Vellvé^3,4, Ana Sandra Hernández^3,4, Ester Tobias^1,2,3, Rosa Casas⁵, Fàtima Crispi^3,4, Eduard Gratacós^3,4, Francesc Cardellach^1,2,3, Francesc Josep García-García^1,2,3, Glòria Garrabou^1,2,3

1: Inherited metabolic diseases and muscular disorders Lab, Cellex - Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Science - University of Barcelona (UB), 08036 Barcelona, Spain; 2: Internal Medicine Unit, Hospital Clínic of Barcelona, 08036 Barcelona, Spain; 3: Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain; 4: BCNatal—Barcelona Centre for Maternal-Foetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Déu), IDIBAPS, University of Barcelona, 08036 Barcelona, Spain; 5: Medicine Department, Faculty of Medicine. CIBEROBN Obesity and Nutrition Physiopathology. Institut de Recerca en Nutrició i Seguretat Alimentaria (INSA-UB). University of Barcelona, Barcelona, Spain. Fundación Dieta Mediterránea, Barcelona, Spain,

Telomerase is crucial for mitochondrial function in human cardiomyocytes

Shambhabi Chatterjee^1,2,3, Megan Leach-Mehrwald¹, Cheng-Kai Huang¹, Ke Xiao^1,3, Dongchao Lu¹, Thomas Thum^1,2,3, Christian Bär^1,2,3

1: Institute of Molecular and Translational Therapeutic Strategies (IMTTS), Hannover Medical School, Hannover, Germany; 2: REBIRTH Center for Translational Regenerative Medicine, Hannover Medical School, Hannover, Germany; 3: Fraunhofer Institute for Toxicology and Experimental Medicine, Hannover, Germany

Drug repositioning as a mitochondrial-targeted therapeutic approach for neurodegenerations associated with OPA1 mutations

Valentina Del Dotto¹, Serena J. Aleo¹, Alessandra Maresca², Anna Ghelli³, Michela Rugolo³, Anna Maria Porcelli³, Enrico Baruffini⁴, Alessandra Baracca¹, Valerio Carelli^1,2, Claudia Zanna¹

1: Dept. Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Italy; 2: IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 3: Dept. Pharmacy and Biotechnology (FABIT), University of Bologna, Italy; 4: Dept. Chemistry, Life Science and Environmental Sustainability, University of Parma, Italy

Mitochondria hormesis delays aging and associated diseases in C. elegans impacting on key ferroptosis players

Alfonso Schiavi¹, Eva Salveridou¹, Vanessa Brinkmann¹, Anjumara Shaik¹, Ralph Menzel², Sumana Kalyanasundaram³, Ståle Nygård³, Hilde Nilsen³, Natascia Ventura^1,4

1: Leibniz Research Institute for Environmental Medicine (IUF), Düsseldorf, Germany; 2: Humboldt-Universität zu Berlin, Berlin, Germany; 3: Institute of Clinical Medicine, Department of Clinical Molecular Biology, University of Oslo, Norway; 4: Institute of Clinical Chemistry and Laboratory Diagnostic, Medical Faculty, Heinrich Heine University of Düsseldorf, Germany

Cross-talk between mitochondria and immunoproteasomes upon mitochondrial dysfunction

Vyshnavi Tallapaneni, Agnieszka Chacinska

IMol Polish Academy of Sciences, Warsaw, Poland

Diagnostic examination of kinase inhibitors by bioenergetic profiling of cancer cell models reveals off-target drug effects

Omar Torres-Quesada^1,2, Sophie Strich², Andreas Feichtner^2,3, Selina Schwaighofer³, Carolina Doerrier⁴, Sabine Schmitt⁴, Erich Gnaiger⁴, Eduard Stefan^2,3

1: Division of Medical Biochemistry, Medical University of Innsbruck, Innrain 80/82, 6020 Innsbruck, Austria; 2: Tyrolean Cancer Research Institute (TKFI), Innrain 66, 6020 Innsbruck, Austria.; 3: Institute of Biochemistry and Center for Molecular Biosciences, University of Innsbruck, Innrain 80/82, 6020 Innsbruck, Austria; 4: Oroboros Instruments, Schoepfstrasse 18, 6020 Innsbruck, Austria

Leukemia cells undergo metabolic remodeling and become vulnerable to mitochondrial translation inhibition

Eva Nyvltova, Priyanka Maiti, Tyler A. Cunningham, Paola Manara, Matthew D. Wiefels, Jonathan H. Schatz, Antoni Barrientos, Flavia Fontanesi

University of Miami, United States of America

Metabolic reprogramming of bone-marrow mesenchymal stem cells leads to impaired bone formation in m.3243A>G carriers

Paula Fernandez Guerra^1,2, Ahmed Sayed^1,2, Pernille Kjær^1,2, Tina K. Nielsen^1,2, Nicholas Ditzel^1,2, Simone K. Terp³, Charlotte Ejersted¹, Jesper S. Thomsen⁴, Herma Renkema⁵, Jan Smeitink^5,6, John Vissing⁷, Per H. Andersen⁸, Kent Søe^9,10,11, Thomas L. Andersen^9,10,12, Moustapha Kassem^1,2, Morten Frost^1,2,13, Anja L. Frederiksen¹⁴

1: Dept. of Endocrinology, Odense University Hospital (OUH), Odense, Denmark; 2: The Molecular Endocrinology & Stem Cell Research Unit (KMEB), Molecular Endocrinology, University of Southern (SDU), Denmark; 3: Dept. of Molecular Diagnostics, Aalborg University Hospital, Aalborg; 4: Department of Biomedicine, Aarhus University, Aarhus, Denmark; 5: Khondrion BV, Nijmegen, The Netherlands; 6: Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands; 7: Dept. of Neurology, Rigshospitalet, Copenhagen, Denmark; 8: Dept. of Endocrinology, Hospital of Southwest, Esbjerg, Denmark; 9: Dept. of Clinical Research, SDU, Denmark; 10: Clinical Cell Biology, Dept. of Pathology, OUH, Denmark; 11: Dept. of Molecular Medicine, SDU, Denmark; 12: Dept. of Forensic Medicine, AU, Denmark; 13: Steno Diabetes Centre Odense, OUH, Denmark; 14: Dept. of Clinical Genetics, Aalborg University Hospital, Denmark

Nucleus Associated Mitochondria (NAM) drive a cholesterol-mediated mechanism of Temozolomide resistance in glioblastoma cells

Daniela Strobbe¹, Mardja Bueno², Claudia De Vitis³, Danilo Faccenda⁴, Krenare Bruqi¹, Elena Romano¹, Gurtej K Dhoot⁴, Ivi J Bistrot⁵, Fabio Klamt⁵, Luana S Lenz², Eduardo Cremonese Filippi-Chiela^2,11, Pietro Ivo D'Urso⁶, Imogen Lally⁷, Laura Falasca⁸, Rita Mancini³, Federico Roncaroli⁹, Guido Lenz², Michelangelo Campanella^4,10

1: Department of Biology, University of Rome Tor Vergata, 00133, Rome, Italy; 2: Department of Biophysics, and Centre of Biotechnology, Universida de Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; 3: Department of Clinical and Molecular Medicine, University of Rome La Sapienza, 00198 Rome, Italy; 4: Department of Comparative Biomedical Sciences, The Royal Veterinary College, University of London; 5: Department of Biochemistry, Universidade Federal do Rio Grandedo Sul (UFRGS), Porto Alegre, RS, Brazil; 6: Department of Neurosurgery, Manchester Academic Health Science Centre, Northern Care Alliance, Salford UK; 7: Department of Cellular Pathology, Northern Care Alliance, Salford UK; 8: Laboratory of Electron Microscopy, Department of Epidemiology and Preclinical Research National Institute for Infectious Diseases Lazzaro Spallanzani-IRCCS, Rome, Italy; 9: Geoffrey Jefferson Brain Research Centre, Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK; 10: UCL Consortium for Mitochondrial Research, University College London, WC1 6BT, London, UK; 11: Experimental Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre 90035-903, Rio Grande do Sul, Brazil

Upregulation of COX4-2 via HIF-1α and replicative stress and impaired nuclear DNA damage response in mitochondrial COX4-1 deficiency

Liza Douiev (Charpak), Chaya Miller, Ann Saada (Reisch)

Hadassah Medical Center and Hebrew University of Jerusalem, Israel

Analysis of mitochondrial function using novel detection reagents

Yasuka Komatsu¹, Masaki Murai¹, Naoko Yamamoto¹, Masakazu Nakakubo¹, Munetaka Ishiyama¹, Toshitada Yoshihara²

1: DOJINDO LABORATORIES; 2: Gunma University

Mitochondrial dynamics in cancer cells: relationship between the F1Fo-ATPase inhibitor IF1 and the mitochondrial the fusion-fission machinery

Claudia Zanna, Silvia Grillini, Riccardo Righetti, Valentina Del Dotto, Giancarlo Solaini, Alessandra Baracca

Department of Biomedical and Neuromotor Sciences, University of Bologna

Melatonin overcomes resistance to CDDP treatment associated with the overexpression of the ATP-driven transmembrane efflux pumps

Alba López Rodríguez^1,2,3, César Rodríguez Santana^1,2,3, Laura Martínez Ruíz^1,2,3, Javier Florido Ruiz^1,2,3, Germaine Escames Rosa^1,2,3

1: Institute of Biotechnology; 2: Biomedical Research Centre; 3: University of Granada, Spain

Therapeutic capacity of exercise and melatonin against inflammation and mitochondrial dysfunction in the iMS-Bmal1-/- model of sarcopenia.

Yolanda Ramírez Casas^1,2, José Fernández Martínez^1,2, Paula Aranda Martínez^1,2, Germaine Escames Rosa^1,2,3, Darío Acuña Castroviejo^1,2,3

1: Departamento de Fisiología, Facultad de Medicina, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.; 2: Instituto de Investigación Biosanitaria de Granada (Ibs.Granada), Granada, Spain.; 3: Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable (CIBERfes), Madrid, Spain.

Astrocytic CREB neuroprotection in experimental traumatic brain injury is associated with regulation of energetics and lipid metabolism: role of lactate

Irene Fernández González¹, Abel Eraso Pichot², Mariona Jové³, Manel Portero Otin³, Levi Wood⁴, Mercé Giralt¹, Juan Manuel Hidalgo¹, Luis Pardo^1,5, Arantxa Golbano¹, Roser Masgrau¹, Elena Galea^1,6, Elisenda Sanz¹, Albert Quintana¹

1: Universitat Autònoma de Barcelona, Institut de Neurociències, Bellaterra, Spain; 2: Neurocentre Magendie, Inserm U1215, Bordeaux, France; 3: Universitat de Lleida, Institut de Recerca Biomèdica, Lleida, Spain; 4: Georgia Institute of Technology, Georgia, United States of America; 5: Beatson Institute for Cancer Research, Glasgow, United Kingdom; 6: ICREA, Barcelona, Spain

ROS induced mitochondrial hormesis partially protects from SGAs mitochondrial toxicity and cardiovascular disease.

Maria Monsalve¹, Laura Doblado¹, Gaurangkumar Patel¹, Salvador Pérez², Antonio Martínez³, Susana Cadenas⁴, Juan Sastre², Francisco Abad Santos³, Ángel Luis García-Villalón⁵, Miriam Granado⁵

1: Instituto de Investigaciones Biomédicas Alberto Sols, Spain; 2: Universidad de Valencia; 3: Instituto de Investigación Sanitaria La Princesa; 4: CBMSO; 5: Universidad Autónoma de Madrid

Mitochondrial metabolism in breast cancer and cancer-associated adipose tissue

Aleksandra Jankovic¹, Tamara Zakic¹, Marta Budnar Soskic¹, Biljana Srdic Galic², Aleksandra Korac³, Bato Korac^1,3

1: Institute for Biological Research "Sinisa Stankovic"- National Institute of Republic of Serbia, University of Belgrade, Serbia; 2: Faculty of Medicine, University of Novi Sad, Novi Sad, Serbia; 3: Faculty of Biology, University of Belgrade, Belgrade, Serbia

Reorganization of the energy metabolism: from colon polyps to colorectal cancer

Tuuli Käämbre¹, Leenu Reinsalu¹, Egle Rebane-Klemm Rebane-Klemm¹, Igor Shevchuk¹, Vahur Valvere², Jelena Bogovskaja², Marju Puurand¹

1: National Institute of Chemical Physics and Biophysics, Estonia; 2: North Estonia Medical Centre, Oncology and Haematology Clinic, Tallinn, Estonia

Role of NcoR1 and PGC-1 for mitochondrial dysfunction in skeletal muscle of ovariectomized mice

Jiyun Ahn, Tae Youl Ha

Korea Food Research Institute, Korea, Republic of (South Korea)

Melatonin drives apoptosis in head and neck cancer by increasing mitochondrial ROS generated via reverse electron transport

Laura Martinez Ruiz^1,2,3, Javier Florido^1,2,3, César Rodríguez Santana^1,2, Alba López Rodríguez^1,2, Germaine Escames^1,2,3

1: Institute of Biotechnology, Biomedical Research Center, Health Sciences Technology Park, University of Granada, Granada, Spain; 2: Department of Physiology, Faculty of Medicine, University of Granada, Granada, Spain; 3: Centro de Investigación Biomédica en Red Fragilidad y Envejecimiento Saludable (CIBERFES), Instituto de Investigación Biosanitaria (Ibs), Granada, San Cecilio University Hospital, Granada, Spain

Differences in life expectancy of rats with inherited high and low exercise capacity correlate with mitochondrial function in skeletal muscle

Estelle Heyne¹, Lauren G. Koch², Steven L. Britton³, Torsten Doenst¹, Michael Schwarzer¹

1: University Hospital of Friedrich-Schiller-University Jena, Germany; 2: The University of Toledo, Toledo, OH; 3: University of Michigan, Ann Arbor, MI

Modulation of the activity of human mitochondrial protease complex ClpXP as potential therapeutic strategy for cancer

Francesca Rizzo, Morena Miciaccia, Antonella Cormio, Savina Ferorelli, Maria Grazia Perrone, Antonio Scilimati, Paola Loguercio Polosa

University of Bari "Aldo Moro", Italy

Mitochondrial respiratory function in peripheral blood cells across the human life span

Eleonor Åsander Frostner¹, Johannes Ehinger^1,2, Emil Westerlund^1,3, Michael Karlsson⁴, Gesine Paul⁵, Fredrik Sjövall^1,6, Eskil Elmér¹

1: Lund University, Department of Clinical Sciences Lund, Mitochondrial Medicine, Lund, Sweden; 2: Lund University, Skåne University Hospital, Department of Clinical Sciences Lund, Otorhinolaryngology, Head and Neck Surgery, Lund, Sweden; 3: A&E Department, Kungälv Hospital, Kungälv, Sweden; 4: Department of Neurosurgery, Rigshospitalet, Copenhagen, Denmark; 5: Lund University, Department of Clinical Sciences Lund, Translational Neurology Group and Wallenberg Center for Molecular Medicine, Lund, Sweden; 6: Skåne University Hospital, Department of Intensive- and perioperative Care, Malmö, Sweden

Diagnostic value of urine organic acid analysis for primary mitochondrial disorders

Tatiana Krylova, Marina Kurkina, Polina Baranova, Polina Tsygankova, Yulia Itkis, Ekaterina Zakharova

Research Centre for Medical Genetics, Russian Federation

Exercise and melatonin counteract Bmal1 loss-dependent sarcopenia in mouse skeletal muscle by improving mitochondrial ultrastructure and function

José Fernández-Martínez^1,2, Yolanda Ramírez-Casas^1,2, Paula Aranda-Martínez^1,2, Germaine Escames^1,2,3, Darío Acuña-Castroviejo^1,2,3

1: Departamento de Fisiología, Facultad de Medicina, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.; 2: Instituto de Investigación Biosanitaria de Granada (Ibs.Granada), Granada, Spain.; 3: Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable (CIBERfes), Madrid, Spain.

Uncovering the OXPHOS complexes' interdependence mechanism

Kristýna Čunátová¹, Marek Vrbacký¹, Guillermo Puertas-Frias¹, Josef Houštěk¹, Jiří Neužil², Alena Pecinová¹, Petr Pecina¹, Tomáš Mráček¹

1: Laboratory of Bioenergetics, Institute of Physiology, Czech Academy of Sciences, Czech Republic; 2: Laboratory of Molecular Therapy of Cancer, Institute of Biotechnology, Czech Academy of Sciences, Vestec, Czech Republic

Challenging the norm – outcome measure selection for evaluating therapeutic response in patients with Primary Mitochondrial Myopathy after 12 weeks of treatment with REN001, a novel PPARδ agonist.

Lisa Alcock^1,2, Renae J. Stefanetti^2,3, Oliver Russell^2,3, Alisdair P. Blain^2,3, Jane Newman^2,3,4, Naomi J.P. Thomas^2,3,4, Charlotte Warren^2,3, Huizhong Su^2,3, Philip Brown⁵, David Houghton^2,3, Heather Hunter⁵, Helen Tuppen^2,3, Gavin Falkous⁴, Robert W. Taylor^2,3,4, Albert Z. Lim^2,3,4, Yi Shiau Ng^2,3,4, Catherine Feeney^2,3,4, Iwona Skorupinska⁶, Louise Germain⁷, Enrico Bugiardini⁶, Michael G. Hanna⁶, Robert McFarland^2,3,4, Robert D.S. Pitceathly^6,7, Lynn Rochester^1,2,5, Gráinne S. Gorman^2,3,4

1: Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, UK; 2: National Institute for Health and Care Research (NIHR) Newcastle Biomedical Research Centre (BRC), Newcastle University and The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 3: Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, UK; 4: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 5: The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 6: Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK; 7: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK

Indirect comparison of lenadogene nolparvovec gene therapy versus natural history in m.11778G>A MT-ND4 Leber hereditary optic neuropathy patients

Nancy J. Newman¹, Mark L. Moster², Valerio Carelli³, Patrick Yu-Wai-Man⁴, Valerie Biousse¹, Prem S. Subramanian⁵, Catherine Vignal-Clermont⁶, An-Guor Wang⁷, Sean P. Donahue⁸, Bart P. Leroy⁹, Robert C. Sergott², Thomas Klopstock¹⁰, Alfredo A. Sadun¹¹, Gema Rebolleda Fernández¹², Bart K. Chwalisz¹³, Rudrani Banik¹⁴, Magali Taiel¹⁵, José-Alain Sahel¹⁶

1: Departments of Ophthalmology, Neurology and Neurological Surgery, Emory University School of Medicine, Atlanta, GA, USA; 2: Departments of Neurology and Ophthalmology, Wills Eye Hospital and Thomas Jefferson University, Philadelphia, PA, USA; 3: IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 4: Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; 5: Sue Anschutz-Rodgers University of Colorado Eye Center, University of Colorado School of Medicine, Aurora, CO, USA; 6: Department of Neuro Ophthalmology and Emergencies, Rothschild Foundation Hospital, Paris, France; 7: Department of Ophthalmology, Taipei Veterans General Hospital, National Yang Ming Chiao Tung University, Taipei, Taiwan; 8: Department of Ophthalmology, Neurology, and Pediatrics, Vanderbilt University, and Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN, USA; 9: Department of Ophthalmology and Center for Medical Genetics, Ghent University Hospital, and Department of Head & Skin, Ghent University, Ghent, Belgium; 10: Department of Neurology, Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilians-University Munich, Munich, Germany; 11: Doheny Eye Institute, UCLA School of Medicine, Los Angeles, CA, USA; 12: Department of Ophthalmology, Alcala University, Madrid, Spain; 13: Department of Ophthalmology, Massachusetts Eye & Ear, Harvard Medical School, Boston, MA, USA; 14: Department of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, NY, USA; 15: GenSight Biologics, Paris, France; 16: Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France

The mitochondrial stress, brain imaging, and epigenetics study (MiSBIE)

Caroline Trumpff¹, Anna S Monzel¹, Catherine Kelly¹, Kris Engelstad¹, Shufang Li¹, Kalpita Karan¹, Gabriel Sturm¹, Jeremy Michelson¹, Mangesh Kurade¹, Vincenzo Lauriola¹, Sophia Tepler¹, Grace Liu¹, Peter Shapiro¹, Robert-Paul Juster², Stephanie Assuras¹, Richard Sloan¹, Michel Thiebaut de Schotten³, Tor Wager⁴, Michio Hirano¹, Martin Picard¹

1: Columbia University Irving Medical Center, United States of America; 2: Université de Montréal, Canada; 3: Université de Bordeaux, France; 4: Dartmouth College, Uniter States of America

Free cytosolic-mitochondrial DNA triggers a potent type-I Interferon response in Kearns–Sayre patients counteracted by mofetil mycophenolate

Michela Di Nottia¹, Ivan Caiello², Alessandra Torraco¹, Martina Zoccola¹, Fabrizio De Benedetti², Carlo Dionisi-Vici³, Enrico Bertini⁴, Diego Martinelli³, Rosalba Carrozzo¹

1: Unit of Cellular Biology and Diagnosis of Mitochondrial Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; 2: Division of Rheumatology, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy; 3: Division of Metabolism, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy; 4: Research Unit of Muscular and Neurodegenerative Disorders, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

Fumarate induces mtDNA release via mitochondrial-derived vesicles and drives innate immunity

Vincent Paupe¹, Vincent Zecchini², Christian Frezza^2,3, Julien Prudent¹

1: Medical Research Council, MBU,University of Cambridge, UK; 2: Medical Research Council Cancer Unit,University of Cambridge, UK; 3: CECAD Research Centre, University of Cologne, Cologne, Germany

Impaired inflammatory response to lipopolysaccharide in fibroblasts from patients with long-chain fatty acid oxidation disorders

Signe Mosegaard^1,2, Krishna Twayana³, Simone Denis¹, Jeffrey Kroon⁴, Bauke Schomakers⁵, Michel van Weeghel⁵, Riekelt Houtkooper¹, Rikke Olsen², Christian Holm³

1: Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; 2: Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University and Aarhus University Hospital, Aarhus, Denmark; 3: Department of Biomedicine, Aarhus Research Center for Innate Immunology, Aarhus University, Aarhus, Denmark; 4: Department of Experimental Vascular Medicine, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; 5: Core Facility Metabolomics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands

Functional characterisation of the human mitochondrial disaggregase, CLPB

Megan J Baker¹, Alexander J Anderson¹, Catherine S Palmer¹, David R Thorburn^2,3, Ann E Frazier², Diana Stojanovski¹

1: Department of Biochemistry and Pharmacology, The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville VIC 3010, Australia; 2: Murdoch Children’s Research Institute, Royal Children’s Hospital and Department of Paediatrics, The University of Melbourne, Parkville VIC 3052, Australia; 3: Victorian Clinical Genetics Services, Royal Children’s Hospital, Melbourne, Parkville VIC 3052, Australia

High fat diet ameliorates the mitochondrial cardiomyopathy of CHCHD10 mutant mice

Hibiki Kawamata, Nneka Southwell, Nicole Sayles, Giovanni Manfredi

Weill Cornell Medicine, United States of America

The mitochondrial inhibitor IF1 has a dual role in cancer

Martina Grandi¹, Cristina Gatto¹, Simone Fabbian², Natascia Tiso³, Francesco Argenton³, Massimo Bellanda², Giancarlo Solaini¹, Valentina Giorgio*¹, Alessandra Baracca*¹

1: Department of Biomedical and Neuromotor Sciences, University of Bologna; 2: Department of Chemical Science, University of Padova; 3: Department of Biology, University of Padova, Padova

Tractography of the anterior optic pathway provides biomarkers of pathological change in Leber’s Hereditary Optic Neuropathy

David Neil Manners^2,4, Giovanni Sighinolfi^1,2, Laura Ludovica Gramegna¹, Chiara La Morgia², Alessandro Carrozzi¹, Cristiana Fiscone^1,2, Claudia Testa^2,3, Raffaele Lodi^1,2, Valerio Carelli^1,2, Caterina Tonon^1,2

1: Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy; 2: IRCCS Instituto delle Scienze Neurologiche di Bologna, Bologna, Italy; 3: Department of Physics and Astronomy, University of Bologna, Italy; 4: Department of Life Quality Studies, University of Bologna

A novel role of Keap1/PGAM5 complex: ROS sensor for inducing mitophagy

Akbar Zeb¹, Vinay Choubey¹, Ruby Gupta¹, Malle Kuum¹, Dzhamilja Safiulina¹, Annika Vaarmann¹, Nana Gogichaishvili¹, Mailis Liiv¹, Ivar Ilves¹, Kaido Tämm¹, Vladimir Veksler², Allen Kaasik¹

1: University of Tartu, Estonia; 2: University Paris-Saclay, INSERM UMR-S, France

Optimising interventional trials: how natural history studies and digital technologies can drive innovation

Gráinne Gorman¹, Michelangelo Mancuso²

1: Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom; 2: University of Pisa, Italy

Identifying circulating biomarkers to monitor mitochondrial disease severity

Rohit Sharma

Massachusetts General Hospital, United States of America

National mitochondrial disease registry in England: linking genetics with routinely collected healthcare data

Katherine R Schon^1,2, Peter Stilwell³, Jeanette Aston³, Robert D S Pitceathly⁴, Michael G Hanna⁴, Carl Fratter⁵, Rita Horvath¹, Mary Bythell³, Steven A Hardy³, Patrick F Chinnery^1,2

1: Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK; 2: Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK; 3: National Disease Registration Service, NHS Digital, Leeds, UK; 4: Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK; 5: NHS Highly Specialised Services for Rare Mitochondrial Disorders – Oxford Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK

Status epilepticus in POLG disease

Omar Hikmat^1,2, Karin Naess^3,4, Martin Engvall^3,5, Claus Klingenberg^6,7, Magnhild Rasmussen^8,9,10, Eylert Brodtkorb^11,12, Elsebet Ostergaard¹³, I.F.M de Coo¹⁴, Leticia Pias-Peleteiro¹⁵, Pirjo Isohanni^16,17, Johanna Uusimaa^18,19, Kari Majamaa^20,21, Mikko Kärppä^20,21, Juan Dario Ortigoza-Escobar^22,23, Trine Tangeraas^24,25, Siren Berland²⁶, Rita Horvath²⁷, Niklas Darin²⁸, Shamima Rahman^25,29,30, Laurence A. Bindoff^2,31

1: Department of Paediatrics and Adolescent Medicine, Haukeland University Hospital, Norway; 2: Department of Clinical Medicine (K1), University of Bergen, Norway; 3: Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; 4: Department of Neuropediatrics, Astrid Lindgren Childrens Hospital, Karolinska University Hospital, Stockholm, Sweden; 5: Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; 6: Department of Paediatric and Adolescent Medicine, University Hospital of North Norway, Tromso, Norway; 7: Paediatric Research Group, Department of Clinical Medicine, UiT- The Arctic University of Norway, Tromso, Norway; 8: Women and Children's Division, Department of Clinical Neurosciences for Children, Oslo University Hospital, Oslo, Norway and Unit for Congenital and Hereditary Neuromuscular Disorders, Department of Neurology, Oslo University Hospital, Oslo, Norway; 9: Department of Neurology, Oslo University Hospital, Oslo, Norway; 10: Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway; 11: Department of Neuroscience and Movement Science, Norwegian University of Science and Technology, Trondheim, Norway; 12: Department of Neurology and Clinical Neurophysiology, St. Olav's University Hospital, Trondheim, Norway; 13: Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; 14: Facultiy of Health, Medicine and Life Sciences, Department of Toxicology, , University of Maastricht, Maastricht, The Netherlands; 15: Neurometabolic Disorders Unit, Department of Child Neurology/ Department of Genetics and Molecular Medicine, Sant Joan de Déu Children´s Hospital, Barcelona, Spain; 16: Department of Pediatric Neurology, Children's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; 17: Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; 18: Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland; 19: Department of Pediatric Neurology, Clinic for Children and Adolescents and Medical Research Center, Oulu University Hospital, Oulu, Finland; 20: Research Unit of Clinical Medicine, Neurology, and Medical Research Center Oulu, Oulu University hospital and university of Oulu, Oulu Finland; 21: Neurocenter , Oulu University Hospital ,Oulu Finland; 22: Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII, Barcelona, Spain; 23: European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain; 24: Norwegian national Unit for Newborn Screening, Division of Pediatric and adolescent Medicine, Oslo University Hospital, Oslo, Norway; 25: European Reference Network for Hereditary Metabolic Disorder; 26: Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway; 27: Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; 28: Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg, Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden; 29: Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK; 30: Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; 31: Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway

Challenging the norm – outcome measure selection for evaluating therapeutic response in patients with Primary Mitochondrial Myopathy after 12 weeks of treatment with REN001, a novel PPARδ agonist.

Lisa Alcock^1,2, Renae J. Stefanetti^2,3, Oliver Russell^2,3, Alisdair P. Blain^2,3, Jane Newman^2,3,4, Naomi J.P. Thomas^2,3,4, Charlotte Warren^2,3, Huizhong Su^2,3, Philip Brown⁵, David Houghton^2,3, Heather Hunter⁵, Helen Tuppen^2,3, Gavin Falkous⁴, Robert W. Taylor^2,3,4, Albert Z. Lim^2,3,4, Yi Shiau Ng^2,3,4, Catherine Feeney^2,3,4, Iwona Skorupinska⁶, Louise Germain⁷, Enrico Bugiardini⁶, Michael G. Hanna⁶, Robert McFarland^2,3,4, Robert D.S. Pitceathly^6,7, Lynn Rochester^1,2,5, Gráinne S. Gorman^2,3,4

1: Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, UK; 2: National Institute for Health and Care Research (NIHR) Newcastle Biomedical Research Centre (BRC), Newcastle University and The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 3: Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, UK; 4: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 5: The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 6: Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK; 7: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK

Indirect comparison of lenadogene nolparvovec gene therapy versus natural history in m.11778G>A MT-ND4 Leber hereditary optic neuropathy patients

Nancy J. Newman¹, Mark L. Moster², Valerio Carelli³, Patrick Yu-Wai-Man⁴, Valerie Biousse¹, Prem S. Subramanian⁵, Catherine Vignal-Clermont⁶, An-Guor Wang⁷, Sean P. Donahue⁸, Bart P. Leroy⁹, Robert C. Sergott², Thomas Klopstock¹⁰, Alfredo A. Sadun¹¹, Gema Rebolleda Fernández¹², Bart K. Chwalisz¹³, Rudrani Banik¹⁴, Magali Taiel¹⁵, José-Alain Sahel¹⁶

1: Departments of Ophthalmology, Neurology and Neurological Surgery, Emory University School of Medicine, Atlanta, GA, USA; 2: Departments of Neurology and Ophthalmology, Wills Eye Hospital and Thomas Jefferson University, Philadelphia, PA, USA; 3: IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 4: Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; 5: Sue Anschutz-Rodgers University of Colorado Eye Center, University of Colorado School of Medicine, Aurora, CO, USA; 6: Department of Neuro Ophthalmology and Emergencies, Rothschild Foundation Hospital, Paris, France; 7: Department of Ophthalmology, Taipei Veterans General Hospital, National Yang Ming Chiao Tung University, Taipei, Taiwan; 8: Department of Ophthalmology, Neurology, and Pediatrics, Vanderbilt University, and Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN, USA; 9: Department of Ophthalmology and Center for Medical Genetics, Ghent University Hospital, and Department of Head & Skin, Ghent University, Ghent, Belgium; 10: Department of Neurology, Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilians-University Munich, Munich, Germany; 11: Doheny Eye Institute, UCLA School of Medicine, Los Angeles, CA, USA; 12: Department of Ophthalmology, Alcala University, Madrid, Spain; 13: Department of Ophthalmology, Massachusetts Eye & Ear, Harvard Medical School, Boston, MA, USA; 14: Department of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, NY, USA; 15: GenSight Biologics, Paris, France; 16: Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France

The mitochondrial stress, brain imaging, and epigenetics study (MiSBIE)

Caroline Trumpff¹, Anna S Monzel¹, Catherine Kelly¹, Kris Engelstad¹, Shufang Li¹, Kalpita Karan¹, Gabriel Sturm¹, Jeremy Michelson¹, Mangesh Kurade¹, Vincenzo Lauriola¹, Sophia Tepler¹, Grace Liu¹, Peter Shapiro¹, Robert-Paul Juster², Stephanie Assuras¹, Richard Sloan¹, Michel Thiebaut de Schotten³, Tor Wager⁴, Michio Hirano¹, Martin Picard¹

1: Columbia University Irving Medical Center, United States of America; 2: Université de Montréal, Canada; 3: Université de Bordeaux, France; 4: Dartmouth College, Uniter States of America

SARM1 deletion delays cerebellar but not spinal cord degeneration in an enhanced mouse model of SPG7 deficiency

Carolina Montoro^1,2, Hendrik Nolte³, Thibaut Molinie^1,2, Giovanna Evangelista^1,2, Simon Tröder², Esther Barth^1,2, Branko Zeivnik², Thomas Langer^2,3, Elena Rugarli^1,2,4

1: Institute for Genetics, University of Cologne, Cologne 50931, Germany; 2: Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Cologne 50931, Germany; 3: Max Planck Institute for Biology of Ageing, Cologne 50931, Germany; 4: Center for Molecular Medicine (CMMC), University of Cologne, Cologne 50931, Germany

Pathobiology of cerebellar degeneration in the Harlequin mouse, a proteomic and system biology approach

Miguel Fernández de la Torre¹, Carmen Fiuza-Luces¹, Sara Laine-Menéndez¹, Aitor Delmiro^1,2,3, Joaquín Arenas^1,2, Miguel A Martín^1,2,4, Alejandro Lucía^5,6, María Morán^1,2

1: Mitochondrial and Neuromuscular Diseases Laboratory, Instituto de Investigación Sanitaria Hospital ‘12 de Octubre’ (‘imas12’), Madrid, Spain; 2: Spanish Network for Biomedical Research in Rare Diseases (CIBERER), U723, Spain.; 3: Servicio de Bioquímica Clínica. Hospital Universitario ‘12 de Octubre’. Madrid, Spain; 4: Servicio de Genética. Hospital Universitario ‘12 de Octubre’. Madrid, Spain; 5: Faculty of Sports Sciences, European University of Madrid, Madrid, Spain; 6: Spanish Network for Biomedical Research in Fragility and Healthy Aging (CIBERFES), Madrid, Spain

The role of mitochondrial transcriptional processes in the aetiology of Parkinson’s disease

Aine Fairbrother-Browne^1,2,3, Ana Luisa Gil-Martínez^3,5, Mina Ryten^2,3,4, Alan Hodgkinson¹

1: Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King’s College London, London, United Kingdom; 2: Department of Genetics and Genomic Medicine Research & Teaching, UCL GOS Institute of Child Health, London, WC1N 1EH, UK; 3: Department of Neurodegenerative Disease, Queen Square Institute of Neurology, UCL, London WC1N 3BG, UK; 4: NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, WC1N 1EH, UK; 5: Department of Information and Communications Engineering Faculty of Informatics, Espinardo Campus, University of Murcia, Murcia, 30100, Spain

Towards a unitary hypothesis of Alzheimer disease pathogenesis

Eric A. Schon¹, Delfina Larrea¹, Jorge Montesinos^1,2, Marta Pera¹, Mark Tambini¹, Estela Area-Gomez^1,2

1: Columbia University, USA; 2: Centro de Investigaciones Biológicas “Margarita Salas”, Madrid, Spain

An experimental protocol for in vivo imaging of brain mitochondrial properties with multiphoton microscopy

Renata Couto, Miguel Remondes, Vanessa A. Morais

Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, 1649-028 Lisbon, Portugal

Exploiting hiPSCs-derived astrocytes from CoPAN patients as cell model to study iron accumulation.

Anna Cozzi¹, Paolo Santambrogio¹, Maddalena Ripamonti^1,2, Chiara Cavestro³, Alicia Rubbio⁴, Ivano Di Meo³, Valeria Tiranti³, Sonia Levi^1,2

1: San Raffaele Scientific Institute; 2: Vita-Salute San Raffaele, Italy; 3: Fondazione IRCCS Istituto Neurologico Carlo Besta; 4: Institute of Neuroscience National Research Council

Secondary mitochondrial impairment in muscle of pediatric patients unrelated to the genes diagnosed by WES: are these mitochondrial diseases?

Flavia Palombo¹, Mariantonietta Capristo¹, Claudio Fiorini¹, Concetta Valentina Tropeano¹, Valentina Del Dotto^1,2, Leonardo Caporali¹, Maria Lucia Valentino^1,2, Veronica Di Pisa³, Gaetano Cantalupo⁴, Marco Seri^5,6, Duccio Maria Cordelli^3,5, Caterina Garone^3,5, Valerio Carelli^1,2

1: IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 2: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 3: IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell'Età Pediatrica, Bologna, Italy; 4: Child Neuropsychiatry Unit, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy; 5: Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy; 6: Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy

In vitro 2D and 3D neuronal model generation of MERRF disease to test therapeutic strategies

Giada Capirossi^1,2, Valentina Del Dotto², Mariantonietta Capristo¹, Giulia Sacchetti¹, Claudio Fiorini¹, Leonardo Caporali², Chiara La Morgia^1,2, Annalinda Pisano³, Carla Giordano³, Giulia D'Amati³, Alessandro Prigione⁴, Alessandra Maresca¹, Valerio Carelli^1,2

1: IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 2: Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; 3: Department of Radiological, Oncological and Pathological Sciences, Sapienza, University of Rome, Rome, Italy; 4: Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany

Molecular mechanism of human mitochondrial chaperonin and its mutation in neurodegenerative disease

Lingling Chen

Indiana University, United States of America

Nucleus-associated mitochondria (NAM) control neuronal Ca2+ signalling and gene expression

Danilo Faccenda^1,3, Radha Desai², Eva Sidlauskaite³, Steven Lynham⁴, Jill Richardson², Michelangelo Campanella^3,5

1: University of Hertfordshire, Department of Clinical, Pharmaceutical and Biological Science, Hatfield, United Kingdom; 2: Discovery Research MRL UK, MSD, LBIC, London, United Kingdom; 3: William Harvey Research Institute, Queen Mary University of London, London, United Kingdom; 4: Proteomics Facility, Centre of Excellence for Mass Spectrometry, King’s College London, London, United Kingdom; 5: University of Padua, Department of Biomedical Sciences, Padua, Italy

Autophagy controls the pathogenicity of OPA1 mutations in ADOA plus

Paola Zanfardino¹, Alessandro Amati¹, Easter Petracca¹, Filippo M. Santorelli², Vittoria Petruzzella¹

1: Department of Translational Biomedicine and Neuroscience (DiBraiN), University of Bari Aldo Moro, Bari, Italy; 2: Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Pisa, Italy

Investigating the function of CHCHD2-CHCHD10 complexes in mitochondria

Kevin McAvoy¹, Nicole Sayles¹, Nneka Southwell¹, Anna Stepanova¹, Alba Pessini², Catarina Quinzii², Giovanni Manfredi¹

1: Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, NY, USA; 2: Department of Neurology, Columbia University Medical Center, New York, NY, USA

Sildenafil restores normal MMP in MILS-NPCs with impaired Complex V assembly and activity

Giulia Pedrotti¹, Annika Zink², Chiara Santanatoglia¹, Marie-Thérèse Henke³, Alessia Di Donfrancesco⁴, Dario Brunetti^4,5, Valeria Tiranti⁴, Markus Schuelke³, Alessandro Prigione^2,6, Emanuela Bottani¹

1: University of Verona, Italy; 2: Department of General Pediatrics, Neonatology and Pediatric Cardiology, Duesseldorf University Hospital, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany; 3: Charité-Universitätsmedizin Berlin, Department of Neuropediatrics, Berlin, Germany; 4: Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico "C.Besta", Milan, Italy; 5: Mitochondrial Medicine Laboratory, Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy; 6: Max Delbrueck Center for Molecular Medicine (MDC), 13125 Berlin, Germany

Mitochondrial dysfunction due to mRNA transport defects as a mechanism of neurodegeneration? Unraveling the role of TBCK in a human neuronal model

Marco Flores-Mendez¹, Jesus TIntos-Hernandez¹, Xilma R Ortiz-Gonzalez^1,2

1: Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia; 2: Division of Neurology, The Children's Hospital of Philadelphia

Modelling COASY protein-associated neurodegeneration (CoPAN) in mice

Chiara Cavestro, Francesca Morra, Maria Nicol Colombo, Marco D’Amato, Valeria Tiranti, Ivano Di Meo

IRCCS Istituto Neurologico C. Besta, Italy

Neural stem cell niche-interactions in mitochondrial disease

Jelle van den Ameele

University of Cambridge, United Kingdom

Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q

Chiara Diquigiovanni^1,2,3, Nicola Rizzardi⁴, Antje Kampmeier⁵, Irene Liparulo⁴, Francesca Bianco^1,6, Bianca De Nicolo^1,2, Erica Cataldi-Stagetti^1,2, Miriam Bertrand⁷, Tobias B. Haack^7,8, Adela Della Marina⁹, Frederik Braun⁹, Alma Kuechler⁵, Romana Fato⁴, Christian Bergamini⁴, Elena Bonora^1,2

1: Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy, 40138; 2: U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy, 40138; 3: Center for Applied Biomedical Research (CRBA), University of Bologna, Bologna, Italy, 40138; 4: Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy, 40126; 5: Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany, 45122; 6: Department of Veterinary Sciences, University of Bologna, Bologna, Italy, 40064; 7: Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany, 72076; 8: Center for Rare Diseases, University of Tübingen, Tübingen, Germany, 72076; 9: Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, Essen, Germany, 45122

Characterization of a novel brain-specific mouse model of Leigh Syndrome

Marta Luna-Sánchez, Marcos Blanco, Emma Puighermanal, Albert Quintana

Neuroscience Institute-Autonomous University of Barcelona, Spain

Investigating FA physiopathology in human iPSC-derived DRG organoïds

Valentine Mosbach¹, Adèle Hennick¹, Marek Napierala², Hélène Puccio¹

1: Institut NeuroMyoGene, PGNM UMR5261, INSERM U1315, Université Claude Bernard Lyon I Faculté de médecine Rockefeller, Lyon 08 France; 2: UT Southwestern Medical Center, 5323 Harry Hines Blvd. Suite NL.9.108 TX75390-8813 Dallas USA

A novel TUBB2A variant associated with pediatric neurodegeneration links microtubule stability to mitochondrial function

Jesus A Tintos-Hernandez¹, Charis Ma¹, Holly Dubbs², Cesar A Alves³, Francesca Bartolini⁴, Xilma R Ortiz-Gonzalez^1,2

1: Center for Mitochondrial and Epigenomic Medicine, The Children’s Hospital of Philadelphia; 2: Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia; 3: Department of Radiology, The Children’s Hospital of Philadelphia; 4: Department of Pathology and Cell Biology, Columbia University

Characterization and functional analysis of a zebrafish knockdown of the mitochondrial DNA replication gene ssbp1

Julian Perrin¹, Vincent Gisbert¹, Nicolas Cubedo², Sandra Triacca¹, Hala Alzaeem¹, Dalia Chakra¹, Mireille Rossel², Marie Péquignot¹, Cécile Delettre¹

1: Institute for Neurosciences of Montpellier (INM) U1298, France; 2: Molecular Mechanisms in Neurodegenerative Dementia (MMDN) U1198, France

Deep mitochondrial genotyping reveals altered mitochondrial quality control mechanisms in advanced cellular models of Parkinson’s disease

Martin Lang, Valentina Gilmozzi, Peter P. Pramstaller, Irene Pichler

Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy

Defining the nuclear genetic architecture of a maternally-inherited mitochondrial disorder

Róisín M Boggan¹, Yi Shiau Ng¹, Imogen G Franklin¹, Charlotte L Alston^1,2, Emma L Blakely^1,2, Boriana Buchner³, Enrico Bugiardini⁴, Kevin Colclough⁵, Grainne S Gorman¹, Catherine Feeney¹, Michael G Hanna⁴, Andrew T Hattersly⁶, Thomas Klopstock^3,7,8, Cornelia Kornblum⁹, Michelangelo Mancuso¹⁰, Kashyap A Patel⁶, Robert D S Pitceathly⁴, Chiara Pizzamiglio⁴, Holger Prokisch^11,12, Jochen Schafer¹³, Andrew M Schaefer¹, Maggie H Shepherd⁶, Annemarie Thaele¹⁴, Rhys Thomas¹, Doug M Turnbull¹, Cathy E Woodward¹⁵, Robert McFarland¹, Robert W Taylor^1,2, Heather J Cordell¹⁶, Sarah J Pickett¹

1: Wellcome Centre for Mitochondrial Research and Institute for Translational and Clinical Research, ewcastle University, United Kingdom; 2: NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 3: Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-University (LMU Klinikum), Munich, Germany; 4: Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK; 5: Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK; 6: Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK; 7: Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; 8: German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; 9: Department of Neurology, University Hospital Bonn, Bonn, Germany; 10: Neurological Institute of Pisa, Italy; 11: Institute of Human Genetics, School of Medicine, Technische Universität München, München, Germany; 12: Institute of Neurogenomics, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany; 13: Department of Neurology, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany; 14: Department of Neurology, Martin-Luther-University Halle-Wittenberg, 06120 Halle (Saale), Germany; 15: Neurogenetics Unit, The National Hospital for Neurology and Neurosurgery, London, UK; 16: Population Health Sciences Institute, Newcastle University, UK

OPA3 loss causes alterations in mitocondrial dynamics and autophagy processes

Concetta Valentina Tropeano¹, Valentina Del Dotto², Emanuela Scimonelli², Danara Ormanbekova¹, Claudio Fiorini¹, Valerio Carelli^1,2, Alessandra Maresca¹

1: IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, via Altura 3, 40139, Bologna, Italy; 2: Department of Biomedical and NeuroMotor Sciences, University of Bologna, via Altura 3, 40139, Bologna, Italy

Mitochondrial fusion- and transport-specific roles in neuronal dysfunction

Elisa Motori^1,2

1: Institute for Biochemistry, University of Cologne, Cologne, Germany; 2: Cologne Excellence Cluster on Cellular Stress Response in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany

ER-Mitochondria are affected during ageing in enteric neurons

Giada Delfino, Pascal Derkinderen, Michel Neunlist, Sébastien Paillusson

Inserm U1235, France

Identification of dysregulated molecular pathways in Frataxin deficient Proprioceptive Neurons

Deepika Mokkachamy Chellapandi, Marie Paschaki, Helene Puccio

INMG-PGNM, France

Mitochondrial dysfunction in dorsal root ganglia in Friedreich ataxia mouse and cell models: role of SirT3

Arabela Sanz-Alcázar, Elena Britti, Fabien Delaspre, Marta Medina-Carbonero, Maria Pazos-Gil, Marta Portillo-Carrasquer, Jordi Tamarit, Joaquim Ros, Elisa Cabiscol

Dept. Ciències Mèdiques Bàsiques, Fac. Medicina, Universitat de Lleida. IRBLleida. Lleida (Spain).

MPTP-induced parkinsonism in zebrafish provokes chronodisruption-related loss of daily melatonin and locomotor activity rhythms and mitochondrial dynamics shift, which are restored by melatonin treatment

Paula Aranda Martínez^1,2, Jose Fernández Martínez^1,2, Yolanda Ramírez Casas^1,2, Ana Guerra Librero^1,2,3, Germaine Escames^1,2,3, Darío Acuña Castroviejo^1,2,3

1: Departamento de Fisiología, Facultad de Medicina, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.; 2: Instituto de Investigación Biosanitaria de Granada (Ibs.Granada), Granada, Spain.; 3: Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable (CIBERfes), Madrid, Spain.

Activation of integrated mitochondrial stress response in PRKN Parkinson Disease

Francesc Josep García García¹, Íngrid González Casacuberta¹, Liliya Euro², Mario Ezquerra³, Constanza Morén¹, Aida Ormazabal⁴, Mariona Guitart Mampel¹, Mercedes Casado⁴, Ester Tobías¹, Judith Cantó Santos¹, Laura Valls Roca¹, Laia Farré Tarrats¹, Félix Andújar Sánchez¹, Lorena de Mena³, Francesc Carmona⁵, Manuel Palacín⁶, María José Martí³, Rafael Artuch⁴, Rubén Fernández Santiago³, Glòria Garrabou¹

1: Inherited metabolic diseases and muscular disorders Lab, Cellex - Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Science - University of Barcelona (UB), Department of Internal Medicine - Hospital Clínic of Barcelona (HCB), 08036 Barcelona, Spain, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, U722), 28029 Madrid, Spain.; 2: Research Program of Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki 00290, Finland; HUSlab, Helsinki University Hospital, Helsinki 00290, Finland;; 3: Laboratory of Parkinson Disease and Other Neurodegenerative Movement Disorders, IDIBAPS-Hospital Clínic de Barcelona, Institut de Neurociències, UB, 08036 Barcelona, Spain and Centre for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED CB06/05/0018), 28029 Madrid, Spain.; 4: Department of Clinical Biochemistry, Institut de Recerca de Sant Joan de Deu, Esplugues de Llobregat, 08036 Barcelona, Spain, and CIBERER, 28029 Madrid, Spain.; 5: Department of Statistics, Biology Faculty, UB, Barcelona, Spain; 6: Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology (BIST), 08028 Barcelona, Spain; Department of Biochemistry and Molecular Biomedicine, UB, E-08028 Barcelona, Spain; U731, CIBERER, 08028 Barcelona, Spain;

Delineating the neurodegenerative mechanisms underpinning epilepsy in Alpers’ syndrome

Laura Alexandra Smith^1,2, Chun Chen^1,2, Alasdair Blain^1,2, Robert W Taylor^1,2,3, Gráinne Gorman^1,2,3, Nichola Z Lax^1,2, Daniel Erskine^1,2, Robert McFarland^1,2,3

1: Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK; 2: Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK; 3: NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK

Understanding the effects of hyperbaric oxygen therapy on Alzheimer’s disease mouse model

Nofar Schottlender, Maya Gal, Irit Gottfried, Uri Ashery

Tel-Aviv University, Israel

Analyzing the mitochondrial HPDL protein in fish and human models

Filippo M Santorelli, Valentina Naef, Matteo Baggiani, Devid Damiani

IRCCS Fondazione Stella Maris, Italy

Modulation of mitophagy, mitochondrial and autophagy phenotypes in LRRK2 Parkinson’s patient fibroblast-derived dopaminergic neurons by small molecules

Francesco Capriglia¹, Tia Parker¹, Tom Leah¹, Hasan Ali¹, Katy Barnes¹, Chris Frank², Thomas Nieland², Heather Moeriboys¹

1: Sheffield Institute for Translational Neuroscience (SITraN), The University of Sheffield, Sheffield, UK.; 2: Verge Genomics, South San Francisco, CA, USA.

Proinflammatory cytokines induce alterations of mitochondrial functions and dynamics in neurons

Yeou San Lim, Yi-Chun Liao, Pei-Wen Chu, Shau-Kwaun Chen

Institute of Neuroscience, National Chengchi University, Taiwan

Mitochondrial dysfunction is involved in progranulin-related frontotemporal dementia

Javier S. Bautista¹, Micol Falabella¹, Shanti Lu¹, Cathy E. Woodward², Robyn Labrum², Jonathan Rohrer³, Helene Plun-Favreau⁴, Selina Wray⁴, Jan-Willam Taanman⁵, Robert D.S. Pitceathly^1,6

1: Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK; 2: Neurogenetics Unit, Rare and Inherited Disease Genomic Laboratory, North Thames Genomic Laboratory Hub, London, UK; 3: Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK; 4: Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK; 5: Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London, UK; 6: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK

Morphological characterization of the progression of mitochondrial encephalopathy associated with CoQ10 deficiency

Juan M. Martínez-Gálvez^1,2, Laura Jiménez-Sánchez³, Pilar González-García^1,3, Julia Corral-Sarasa³, Mª. Elena Díaz-Casado^1,3, Luis C. López^1,3

1: Physiology Department, Biomedical Research Center, University of Granada, Granada, Spain; 2: Biofisika Institute (CSIC, UPV-EHU) and Department of Biochemistry and Molecular Biology, University of Basque Country, Leioa, Spain; 3: Ibs.Granada, Granada, Spain

The vanishing dopamine in Parkinson’s disease

Chaitanya Chintaluri, Tim P Vogels

IST Austria, Austria

Effect of UPO04 depending on GAA triplet hyperexpansion in Friedreich’s ataxia disease.

Marta Talaveron Rey, José A. Sánchez Alcázar

Universidad Pablo de Olavide, Spain

New cell model for studying mitochondrial dysfunction in Fragile X-associated tremor/ataxia syndrome

Izabela Broniarek, Katarzyna Tutak, Krzysztof Sobczak

Department of Gene Expression, Institute of Molecular Biology and Biotechnology, Adam Mickiewicz University, Poznan, Poland

Development of an in vitro platform for preclinical investigations on EPM1

Shekhar Singh¹, Dr. Juzoh Umemori¹, Dr. Lidiia Plotnikova¹, Prof. Reetta Kälviäinen^1,2, Dr. Riikka Martikainen¹

1: University of Eastern Finland, Finland; 2: Kuopio University Hospital, Finalnd

Metabolic rewiring in iPSCs-derived neuron progenitor cells of patients with mutations of mitochondrial SLC25A12/AGC1 carrier

Maria Chiara Magnifico¹, Simona Nicole Barile¹, Eleonora Poeta², Luigi Viggiano¹, Sabrina Petralla², Giuseppe Fiermonte¹, Nicola Balboni², Federico Manuel Giorgi², Antonella Pignataro¹, Michele Protti², Laura Mercolini², Vito Porcelli¹, Giorgia Babini², Isabella Pisano¹, Julia Hentschel³, Giacomo Volpe⁴, Luigi Palmieri¹, Douglas C Wallace⁵, Felix Distelmaier⁶, Stewart Anderson⁵, Barbara Monti², Francesco Massimo Lasorsa¹

1: Department of Biosciences Biotechnologies and Environment, University of Bari, Italy; 2: Department of Pharmacy and BioTechnology, University of Bologna, Italy; 3: Institute of Human Genetics, University Hospital, Leipzig, Germany; 4: Hematology and Cell Therapy Unit, IRCCS-Istituto Tumori "Giovanni Paolo II, Bari, Italy; 5: Children's Hospital of Philadelphia Research Institute, Philadelphia, USA; 6: University Children's Hospital, Heinrich-Heine-University, Düsseldorf, Germany

Mitochondrial function at the neuromuscular junction in motor neuron disease

Adam Creigh¹, Gráinne Goman¹, Rickie Patani^2,3, Helen Devine¹

1: Wellcome Centre for Mitochondrial Research, Newcastle University, United Kingdom; 2: Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, Queen Square, London, UK; 3: The Francis Crick Institute, London, UK.

A novel WDR45 variant in an encephalopathy mimicking Leigh syndrome with complex I deficiency

Giulia Ferrera^1,2, Eleonora Lamantea³, Andrea Legati³, Celeste Panteghini³, Manuela Spagnolo³, Barbara Maria Garavaglia³, Valeria Sonia Tiranti³, Giovanna Simonetta Zorzi¹, Daniele Ghezzi^3,4, Anna Ardissone¹

1: Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; 2: Department of Health Sciences,University of Milan, Milan, Italy; 3: Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; 4: Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy

Characterisation of mitochondrial dysfunction in Huntington’s disease patient-derived fibroblasts

Naomi Hartopp¹, Anastasia Thoma¹, Emily Mossman¹, Laura Ellis¹, Rachel Hughes¹, Gauri Bhosale², Anachiara Gandini², Alessandro Pristera², Christopher Doe², Scott Allen¹, Laura Ferraiuolo¹, Pamela Shaw¹, Oliver Bandmann¹, Heather Mortiboys¹

1: University of Sheffield, Sheffield Institute for Translational Neuroscience, United Kingdom; 2: Nanna Therapeutics, Cambridge, UK

Loss of mitochondrial chaperone Trap1 in mice causes changes in synaptic mitochondria function

Aleksandra Stawikowska, Marta Magnowska, Bożena Kuźniewska, Magdalena Dziembowska

Centre of New Technologies, University of Warsaw, Poland

Unveiling the metabolic signature of synaptic mitochondria

Bernardo Cetra Antunes, Vanessa A. Morais

Instituto de Medicina Molecular João Lobo Antunes, Portugal

Aberration of mitochondrial ultrastructure in the skeletal muscle in patients with Parkinson’s disease

Laura Kytövuori^1,2, Ilkka Miinalainen³, Maria Gardberg⁴, Mikko Kärppä^1,2, Hannu Tuominen⁵, Juhana Leppilahti⁶, Kari Majamaa^1,2

1: Neurocenter, Oulu University Hospital, Oulu, Finland; 2: Research Unit of Clinical Medicine, Medical Research Center, University of Oulu and Oulu University Hospital, Oulu Finland; 3: Electron microscopy, Biocenter Oulu, University of Oulu, Oulu, Finland; 4: Pathology, Turku University Hospital and University of Turku, Turku, Finland; 5: Pathology, Oulu University Hospital, Oulu, Finland; 6: Division of Orthopaedic and Trauma Surgery, Department of Surgery, Medical Research Center, University of Oulu and Oulu University Hospital, Oulu, Finland

New insights into the pathogenicity of the MT-ATP6: m.9176T>C mutation by a patient cohort and transmitochondrial cybrids combined approach

Pablo Serrano-Lorenzo^1,5, Rocío Garrido-Moraga¹, Alberto Blázquez¹, Óscar García-Campos², Miguel A. Fernández-Moreno^3,5, Esther Gallardo^4,5, María Moran^1,5, Cristina Ugalde^1,5, Joaquín Arenas^1,5, Miguel A. Martín^1,5

1: Mitochondrial Diseases Laboratory, Research Institute, Universitary Hospital 12 de Octubre (Imas12), 28041 Madrid, Spain.; 2: Department of Pediatric Neurology, Hospital General Universitario de Toledo, Toledo, Spain.; 3: Biochemistry Department, Biomedical Research Institute 'Alberto Sols', CSIC, Faculty of Medicine, Autonomous University of Madrid, and Instituto de Investigación Sanitaria Hospital 12 de Octubre (Imas12), 28041 Madrid, Spain.; 4: iPS Cells Translational Research Group, Research Institute, Universitary Hospital 12 de Octubre (Imas12), 28041 Madrid, Spain.; 5: Centre for Biomedical Network Research on Rare Diseases (CIBERER), Spain.

Determining the contribution of mitochondrial alterations to lung cancer in vivo

Mara Mennuni, Stephen Eric Wilkie, Roberta Filograna, David Alsina, Nils-Göran Larsson

Karolinska Institute, Sweden

Gamma Peptide Nucleic Acids as a Mechanism for Targeting the Mitochondrial Genome

Lily C. Farmerie^1,2, Kevin M. Redding², Colin T. Martin³, Taewon Jeon⁴, Harini Nagaraj⁴, Vince M. Rotello⁴, Bruce A. Armitage³, Brett A. Kaufman²

1: Department of Bioengineering, University of Pittsburgh, Pittsburgh, Pennsylvania, USA; 2: Department of Medicine, Vascular Medicine Institute, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA; 3: Department of Chemistry and Center for Nucleic Acids Science and Technology, Carnegie Mellon University, Pittsburgh, Pennsylvania, USA; 4: Department of Chemistry, University of Massachusetts Amherst, Amherst, Massachusetts, USA

Physiological variability in mitochondrial rRNA may predispose to metabolic syndrome

Tomas Mracek¹, Petr Pecina¹, Kristýna Čunátová¹, Vilma Kaplanová¹, Guillermo Puertas¹, Jan Šilhavý², Marek Vrbacký¹, Kateřina Tauchmannová¹, Tomáš Čajka³, Michal Pravenec², Josef Houštěk¹, Alena Pecinová¹

1: Laboratory of Bioenergetics, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic; 2: Laboratory of Genetics of Model Diseases, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic; 3: Laboratory of Translational Metabolism, Institute of Physiology of the Czech Academy of Sciences, Prague, Czech Republic

The European landscape of mitogenomes from LHON patients carrying the m.14484T>C/MT-ND6 pathogenic variant

Leonardo Caporali¹⁶, Anna Olivieri², Francesco Petrizzelli³, Flavia Palombo⁴, Claudio Fiorini⁴, Bernd Wissinger⁵, Patrizia Amati-Bonneau⁶, Julio Montoya⁷, Costanza Lamperti⁸, Thomas Klopstock⁹, Alfredo A Sadun¹⁰, Antonio Federico¹¹, Gavin Hudson¹², Patrick Yu-Wai-Man^13,14, Patrick F Chinnery¹³, René De Coo¹⁵, Tommaso Biagini³, Tommaso Mazza³, Alessandro Achilli², Antonio Torroni², Chiara La Morgia^1,4, Valerio Carelli^1,4

1: University of Bologna, Italy; 2: University of Pavia, Pavia, Italy; 3: Laboratory of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, Rome, Italy; 4: IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy; 5: University of Tuebingen, Tuebingen, Germany; 6: Université LUNAM, Angers, France; 7: Universidad de Zaragoza, Zaragoza, Spain; 8: National Neurological Institute 'C. Besta', Milano, Italy; 9: Ludwig-Maximilians-Universität München, Munich, Germany; 10: UCLA, Los Angeles, California, USA; 11: University of Siena, Siena, Italy; 12: University of Newcastle, Newcastle upon Tyne, UK; 13: University of Cambridge, Cambridge, UK; 14: Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, UK; 15: Erasmus Medical Centre, Rotterdam, The Netherlands; 16: PhD, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna

Mitochondrial DNA contribution to Parkinsonism: from mtDNA maintenance defects to primary mtDNA pathogenic variants

Raffaella Minardi¹, Flavia Palombo¹, Leonardo Caporali², Claudio Fiorini¹, Maria Pia Giannoccaro^1,2, Alessia Fiornetino¹, Maria Lucia Valentino^1,2, Rocco Liguori^1,2, Valerio Carelli^1,2, Giovanni Rizzo¹, Chiara La Morgia^1,2

1: IRCCS Istituto delle Scienze Neurologiche, Italy; 2: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy

Combined fiber atrophy and impaired muscle regeneration capacity driven by mitochondrial DNA alterations underlie the development of sarcopenia

Sammy Kimoloï¹, Ayesha Sen², Stefan Guenther³, Thomas Braun³, Tobias Brügmann^4,5, Philipp Sasse⁵, Rudolf J. Wiesner^2,6,7, David Pla-Martin^2,6, Olivier R. Baris^2,8

1: Department of Medical Laboratory Sciences, Masinde Muliro University of Science and Technology - Kakamega, Kenya; 2: Institute of Vegetative Physiology, University of Cologne - Cologne, Germany; 3: Max Planck Institute for Heart and Lung Research - Bad Nauheim, Germany; 4: Institute for Cardiovascular Physiology, University Medical Center - Göttingen, Germany; 5: Institute of Physiology I, Medical Faculty, University of Bonn - Bonn, Germany; 6: Center for Molecular Medicine Cologne - Cologne, Germany; 7: Cologne Excellence Cluster on Cellular Stress Responses in Aging-associated Diseases (CECAD) - Cologne, Germany; 8: University of Angers, UMR 6015 CNRS / 1083 INSERM, Mitovasc - Angers, France

Examining the link between diet and metabolic risk score in individuals with bipolar disorder

Kassandra Alexis Zachos, Jaehyoung Choi, Ana Cristina Andreazza

University of Toronto, Canada

Mitochondrial morphology and function in mitochondrial disease

Julie Faitg¹, Tracey Davey¹, Doug Turnbull¹, Amy Elizabeth Vincent¹, Tiago Gomes^2,3

1: Newcastle University, United Kingdom; 2: Welcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; 3: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne, United Kingdom

MtDNA sequence and copy number analysis of buffy coat DNA of primary open-angle glaucoma patients

Antoni Vallbona-Garcia^1,2,3, Patrick J. Lindsey², Alphons P.M. Stassen⁴, Rick Kamps², Florence H.J. van Tienen^2,3, Nhan Nguyen², Ilse H.J. Hamers², Rianne Hardij², Marike W. van Gisbergen⁵, Irenaeus F.M. de Coo², Carroll A.B. Webers¹, Theo G.M.F. Gorgels^1,3, Bert J.M. Smeets^2,3

1: University Eye Clinic Maastricht, Maastricht University Medical Center+, Maastricht, The Netherlands; 2: Department of Toxicogenomics, Maastricht University, Maastricht, The Netherlands; 3: School for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands; 4: Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands; 5: Department of Dermatology, GROW-school for oncology and reproduction, Maastricht University Medical Center, Maastricht, The Netherlands

MELAS syndrome pathophysiology in cellular models of the disease

Suleva Povea-Cabello, Marina Villanueva-Paz, José Antonio Sánchez-Alcázar

Universidad Pablo de Olavide, Spain

Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease

Johanna Elander¹, Elizabeth M McCormick², Maria Värendh¹, Karin Stenfeldt^1,3, Rebecca D Ganetzky^2,4, Amy Goldstein^2,4, Zarazuela Zolkipli-Cunningham^2,4, Laura E MacMullen², Rui Xiao⁵, Marni J Falk^2,4, Johannes K Ehinger^1,6

1: Otorhinolaryngology, Head and Neck Surgery, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, Sweden; 2: Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, USA; 3: Logopedics, Phoniatrics and Audiology, Department of Clinical Sciences Lund, Lund University, Sweden; 4: Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, USA; 5: Division of Biostatistics, Department of Pediatrics, Children's Hospital of Philadelphia, USA; 6: Mitochondrial Medicine, Department of Clinical Sciences Lund, Lund University, Sweden

What can we learn from detrimental mitogenome mutations in cattle?

Ino Curik¹, Vladimir Brajkovic¹, Tanja Svara², Mojca Simčič³, Minja Zorc³, Karmen Branovic-Cakanic⁴, Andreja Jungić⁴, Betka Logar⁵, Peter Dovc³, Vlatka Cubric-Curik¹, Dinko Novosel^1,4

1: University of Zagreb - Faculty of Agriculture, 10000 Zagreb, Croatia; 2: University of Ljubljana - Veterinary Faculty, 1000 Ljubljana, Slovenia; 3: University of Ljubljana - Biotechnical Faculty, 1000 Ljubljana, Slovenia; 4: Croatian Veterinary Institute, 10000 Zagreb, Croatia; 5: Agricultural Institute of Slovenia, 1000 Ljubljana, Slovenia

Mitochondrial DNA copy number measurements reveal systemic evidence for mitochondrial dysfunction in age-related macular degeneration

Adriana Koller¹, Caroline Brandl², Claudia Lamina¹, Martina Zimmermann², Klaus Stark², Iris Heid², Florian Kronenberg¹

1: Medical University of Innsbruck, Austria; 2: University of Regensburg, Germany

Multiple mitochondrial DNA deletions in patients with myopathy

Jing Wang^1,2, Ada Chan¹, James Paterson¹, Zarazuela Zolkipli-Cunningham^1,2, Amy Goldstein^1,2, Elizabeth McCormick¹, Colleen Muraresku¹, Matthew Dulik^1,2, Douglas Wallace^1,2, Marni Falk^1,2

1: Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA; 2: Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA

Utilizing donor mitochondrial haplogroup as a potential screening tool for the risk of primary graft dysfunction

Erika Leigh Beroncal¹, Gabriel Siebiger², Aizhou Wang², Marcelo Cypel², Ana Andreazza¹

1: University of Toronto, Canada; 2: University Health Network, Toronto

A rare variant m.4135T>C in the MT-ND1 gene leads to LHON and altered OXPHOS supercomplexes

Hana Stufkova¹, Tereza Rakosnikova¹, Silvie Kelifova¹, Katerina Lokvencova¹, Petra Liskova², Bohdan Kousal², Vaclav Martinek³, Tomas Honzik¹, Hana Hansikova¹, Marketa Tesarova¹

1: Department of Pediatrics and Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic; 2: Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic; 3: Department of Biochemistry, Faculty of Science, Charles University, Prague, Czech Republic.

Mitophagy is stalled in cultured fibroblasts harbouring Parkin mutations

Xiao Liang¹, Nynke van Polanen¹, Derek Narendra², Nicholas Ktistakis³, Jo Poulton¹

1: Department of Women’s and Reproductive Health, University of Oxford, Oxford, UK.; 2: Inherited Movement Disorders Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, USA.; 3: Signalling Programme. The Babraham Institute, Cambridge, UK.

Impact of mitochondrial DNA modifications in shaping personalized ETC complex activities

Sandra Monica Bach de Courtade², Marte Eikenes¹, Yngve Thomas Bliksrud², Berit Woldseth², Lars Lars^1,2

1: University of Oslo, Norway; 2: Oslo University Hospital

Elucidating the role of ATF3 in the neuropathology of a mouse model of Leigh Syndrome

Marcos Blanco¹, Patricia Prada-Dacasa¹, Adán Domínguez-Martínez¹, Alex Gella¹, Elisenda Sanz^1,2, Albert Quintana^1,2

1: Institut de Neurociències, Universitat Autònoma de Barcelona. Bellaterra (Barcelona) 08193. Spain; 2: Department of Cell Biology, Physiology and Immunology, Universitat Autònoma de Barcelona. Bellaterra (Barcelona) 08193. Spain

Deciphering the contribution of the Parvalbumin-expressing neurons in the motor, cognitive and social alterations in a mouse model of Leigh Syndrome

Laura Cutando¹, Andrea Urpi¹, Anna Pallé², Elisenda Sanz¹, Albert Quintana¹

1: Autonomous University of Barcelona, Bellaterra, Spain; 2: Scripps Research, La Jolla, CA, USA

CHCHD10 and SLP2 control the stability of the PHB complex : a key factor for motor neuron viability

Emmanuelle C Genin¹, Sylvie Bannwarth¹, Baptiste Ropert¹, Françoise Lespinasse¹, Alessandra Mauri-Crouzet¹, Gaelle Augé¹, Konstantina Fragaki¹, Charlotte Cochaud¹, Erminia Donnarumma², Sandra Lacas-Gervais³, Luc Dupuis⁴, Timothy Wai², Véronique Paquis-Flucklinger¹

1: Université Côte d’Azur, Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Nice (France); 2: Mitochondrial Biology Group, Institut Pasteur, CNRS UMR 3691, Paris (France); 3: Université Côte d’Azur, Centre Commun de Microscopie Appliquée, Nice (France); 4: Mécanismes Centraux et Périphériques de la Neurodégénérescence, Inserm U1118, UMR S1118, CRBS, Université de Strasbourg, Strasbourg (France)

Mitochondrial dysfunction in peripheral blood mononuclear cells in different stages of Huntington´s disease

Marie Vanisova¹, Hana Stufkova¹, Michael Pasak¹, Jan Roth², Irena Rysankova², Marte Eikenes³, Lars Eide³, Jiri Klempir², Hana Hansikova¹

1: Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic; 2: Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic; 3: Department of Medical Biochemistry, University of Oslo and Oslo University Hospital, Oslo, Norway.

The mitochondrial DNA depletion syndrome protein FBXL4 mediates the degradation of the mitophagy receptors BNIP3 and NIX to suppress mitophagy

Keri-Lyn Kozul¹, Giang Thanh Nguyen-Dien^1,2, Yi Cui¹, Prajakta Gosavi Kulkarni¹, Michele Pagano^3,4, Brett M. Collins⁵, Robert W. Taylor^6,7, Mathew J.K. Jones⁸, Julia K. Pagan^1,5,8

1: School of Biomedical Sciences, Faculty of Medicine, University of Queensland, Brisbane, Australia; 2: Department of Biotechnology, School of Biotechnology, Viet Nam National University-International University, Ho Chi Minh City, Vietnam; 3: Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, USA; 4: Perlmutter Cancer Center, New York University Grossman School of Medicine, New York, USA; 5: The University of Queensland, Institute for Molecular Bioscience, Brisbane, Australia; 6: Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; 7: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 8: The University of Queensland Diamantina Institute, Faculty of Medicine, The University of Queensland, Brisbane, Australia

Mitochondria released from astrocytes contribute to the striatal neuronal vulnerability in Huntington’s disease

Laura Lopez-Molina^1,2,3,4, Alba Pereda-Velarde^1,2,3,4, Silvia Ginés^1,2,3,4

1: Departament de Biomedicina, Facultat de Medicina. Universitat de Barcelona, Spain; 2: Institut de Neurociències. Universitat de Barcelona, Spain; 3: Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; 4: Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.

Mitophagy in CHCHD10 related disorders: beneficial or a deleterious pathway?

Willian Meira, Emmanuelle C. Genin, Mélanie Abou-Ali, Alessandra Mauri, Françoise Lespinasse, Sylvie Bannwarth, Véronique Paquis-Flucklinger

Institute for Research on Cancer and Aging, Nice (IRCAN) - France

Harlequin mice exhibit cognitive impairment, severe loss of Purkinje cells and a compromised bioenergetic status due to the absence of Apoptosis Inducing Factor

Hélène Cwerman-Thibault¹, Vassilissa Malko-Baverel¹, Gwendoline Le Guilloux¹, Isabel Torres-Cuevas^1,2,3, Iván Millán^1,2,4, Bruno Saubaméa⁵, Edward Ratcliffe¹, Djmila Mouri¹, Virginie Mignon^5,6, Odile Boespflug-Tanguy¹, Pierre Gressens¹, Marisol Corral-Debrinski¹

1: Université Paris Cité, NeuroDiderot, Inserm, F-75019 Paris, France; 2: Neonatal Research Group, Instituto de Investigación Sanitaria La Fe (IISLAFE), Valencia, Spain; 3: Department of Physiology, University of Valencia, Vicent Andrés Estellés s/n, 46100 12 Burjassot, Spain; 4: Laboratory of Comparative Neurobiology, Cavanilles Institute of Biodiversity and Evolutionary Biology, University of Valencia, Valencia, Spain; 5: Université de Paris, UMR-S 1144 Inserm, 75006 Paris, France; 6: Université Paris Cité, Platform of Cellular and Molecular Imaging, US25 Inserm, UAR3612 CNRS, 75006 Paris, France

Mitochondrial dysfunction and calcium dysregulation in COQ8A-Ataxia Purkinje neurons are rescued by CoQ10 treatment

Ioannis Manolaras¹, Andrea Del Bondio², Olivier Griso¹, Bianca Habermann³, Hélène Puccio^1,2

1: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS UMR7104, Université de Strasbourg, France; 2: Institut NeuroMyoGene, UMR5310, INSERM U1217, Université Claude Bernard Lyon I Faculté de médecine, Lyon, France; 3: Institut de Biologie du Développement de Marseille (IBDM), CNRS, UMR7288, Aix-Marseille Université, Marseille, France.

Macromolecular crowding: A novel player in mitochondrial physiology and disease

Elianne P Bulthuis¹, Cindy EJ Dieteren¹, Jesper Bergmans¹, Job Berkhout¹, Jori A Wagenaars¹, Els MA van de Westerlo¹, Emina Podhumljak¹, Mark A Hink², Laura FB Hesp¹, Hannah S Rosa³, Afshan N Malik³, Mariska Kea-te Lindert¹, Peter HGM Willems¹, Han JGE Gardeniers⁴, Wouter K den Otter⁴, Merel JW Adjobo-Hermans¹, Werner JH Koopman^1,5

1: Radboud University Medical Center, The Netherlands; 2: University of Amsterdam, The Netherlands; 3: King's College, London, UK; 4: University of Twente, The Netherlands; 5: Wageningen University, The Netherlands

Preserved motor function and striatal innervation despite severe degeneration of dopamine neurons upon mitochondrial dysfunction

Thomas Paß¹, Roy Chowdury², Julien Prudent², Yu Nie³, Patrick Chinnery³, Markus Aswendt⁴, Heike Endepols⁵, Bernd Neumaier⁵, Trine Riemer⁶, Bent Brachvogel⁶, Rudi Wiesner⁷

1: Center for Physiology and Pathophysiology, Faculty of Medicine and University Hospital Cologne, Germany; 2: Medical Research Council Mitochondrial Biology Unit, University of Cambridge, UK; 3: Medical Research Council Mitochondrial Biology Unit and Department of Clinical Neurosciences, Cambridge Biomedical Campus, University of Cambridge, UK; 4: Department of Neurology, Faculty of Medicine and University Hospital Cologne, Germany; 5: Institute of Radiochemistry and Experiment Molecular Imaging, Faculty of Medicine and University Hospital of Cologne, Germany; 6: Department of Pediatrics and Adolescent Medicine, Experimental Neonatology, Faculty of Medicine and University Hospital Cologne, Germany; 7: Center for Physiology and Pathophysiology, Faculty of Medicine and University Hospital Cologne; Cologne Excellence Cluster on Cellular Stress Responses in Aging-associated Diseases (CECAD) and Center for Molecular Medicine Cologne, University of Cologne, Germany

The mitochondrial DNA depletion syndrome protein FBXL4 mediates the degradation of the mitophagy receptors BNIP3 and NIX to suppress mitophagy

Keri-Lyn Kozul¹, Giang Thanh Nguyen-Dien^1,2, Yi Cui¹, Prajakta Gosavi Kulkarni¹, Michele Pagano^3,4, Brett M. Collins⁵, Robert Taylor^6,7, Mathew J.K. Jones⁸, Julia K. Pagan^1,5,8

1: School of Biomedical Sciences, Faculty of Medicine, University of Queensland, Brisbane, Australia; 2: Department of Biotechnology, School of Biotechnology, Viet Nam National University-International University, Ho Chi Minh City, Vietnam; 3: Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, USA; 4: Perlmutter Cancer Center, New York University Grossman School of Medicine, New York, USA; 5: The University of Queensland, Institute for Molecular Bioscience, Brisbane, Australia; 6: Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; 7: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 8: The University of Queensland Diamantina Institute, Faculty of Medicine, The University of Queensland, Brisbane, Australia

Parsing universal heteroplasmy in a large maternal lineage carrying the common LHON variant m.11778G>A/MT-ND4

Danara Ormanbekova¹, Claudio Fiorini¹, Leonardo Caporali², Alberto Pasti¹, Chiara Giannuzzi², Francesco Musacchia³, Diego Vozzi³, Milton N Moraes-Filho⁴, Solange R Salomao⁵, Adriana Berezovsky⁵, Alfredo A Sadun⁶, Stefano Gustincich³, Patrick F Chinnery⁷, Valerio Carelli^1,2

1: Azienda USL di Bologna - IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy; 2: Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; 3: Istituto Italiano di Tecnologia – IIT, Genova, Italy; 4: Instituto de Olhos de Colatina, Colatina, Espírito Santo, Brazil; 5: Departamento de Oftalmologia e Ciências Visuais, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, São Paulo, Brazil; 6: Doheny Eye Institute, Los Angeles, CA, USA; Department of Ophthalmology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA; 7: Medical Research Council Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK

PNPLA3, MBOAT7 and TM6SF2 modify mitochondrial dynamics in NAFLD patients: dissecting the role of cell-free circulating mtDNA and copy number

Miriam Longo¹, Erika Paolini^1,2, Marica Meroni¹, Michela Ripolone¹, Laura Napoli¹, Giada Tria¹, Marco Maggioni¹, Maurizio Maggio¹, Anna Ludovica Fracanzani^1,3, Paola Dongiovanni¹

1: Fondazione IRCCS Cà Granda Ospedale Policlinico, Italy; 2: Department of Pharmacological and Biomolecular Sciences, Università degli Studi di Milano, Italy; 3: Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Italy

The overexpression of TM6SF2 and/or MBOAT7 wild-type genes restores the mitochondrial lifecycle and activity in an in vitro NAFLD model

Erika Paolini^1,2, Miriam Longo¹, Marica Meroni¹, Giada Tria¹, Massimiliano Ruscica², Anna Ludovica Fracanzani^1,3, Paola Dongiovanni¹

1: Fondazione IRCCS Cà Granda Ospedale Policlinico, Italy; 2: Department of Pharmacological and Biomolecular Sciences, Università degli Studi di Milano, Italy; 3: Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Italy

The Organization of the Respiratory Chain and its role in Metabolism

Nils-Göran Larsson

Karolinska Institutet, Sweden

Developing new therapies for mitochondrial diseases

Carlo Viscomi

University of Padova, Italy

AAV-mediated transduction of the nuclear-coded mitochondrial ANT1 gene can ameliorate mouse Ant1-/- pathology: a step toward the treatment of mitochondrial cardiomyopathy

Alessia Angelin^1,2, Kierstin Keller^1,2, Prasanth Potluri^1,2, Deborah Murdock^1,2, Liming Pei^1,2, Douglas C Wallace^1,2

1: The Children's Hospital of Philadelphia, PA USA; 2: Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA

Preclinical studies of efficacy and genetic safety of deoxyribonucleosides as a therapy for mitochondrial DNA maintenance defects

Javier Ramón^1,2, Cristina Domínguez-González^2,5, Jordi Leno-Colorado³, Maria Ylla-Català^1,2, Cora Blázquez-Bermejo^1,2, Pau Molla-Zaragoza^1,2, Anne Lombès⁴, Miguel A. Martín^2,5, M.Dolores Sardina⁶, Itxaso Martí⁷, Adolfo López de Munain^8,9, Francina Munell¹⁰, Raúl Juntas¹¹, Juan Luis Restrepo-Vera¹¹, Antònia Ribes^2,12, Anna Karlsson¹³, Antonella Spinazzola¹⁴, Andrés Nascimento^2,15, Marcos Madruga¹⁶, Carmen Paradas^9,17, Elena García-Arumí^1,2,3, Yolanda Cámara^1,2, Ramon Martí^1,2

1: Research Group on Neuromuscular and Mitochondrial Diseases, Vall d’Hebron Research Institute, Universitat Autònoma de Barcelona, Spain; 2: Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; 3: Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; 4: Institut Cochin, INSERM Unité 1016–Centre National de la Recherche Scientifique (CNRS), Unité Mixte de Recherche (UMR) 8104–Service de Biochimie Métabolique et Centre de Génétique Moléculaire et Chromosomique, Groupement Hospitalier Universitaire (GHU) Pitié-Salpétrière, Assistance Publique–Hôpitaux de Paris (AP–HP)–Université Paris Descartes, Paris, France; 5: Mitochondrial and Neuromuscular Disorders Group, '12 de Octubre’ Hospital Research Institute (imas12), Madrid, Spain; 6: Pediatric Neurology Department, Badajoz Hospital Complex, Badajoz, Spain; 7: Pediatric Neurology Department, Donostia University Hospital, San Sebastian, Spain; 8: Neurology Department, Donostia University Hospital, Osakidetza, San Sebastián. Neuromuscular Group, Neurosciences Area, Biodonostia Research Institute, San Sebastián, Spain; Neurosciences Department, Basque Country University, San Sebastián, Spain; 9: Centro de Investigación en Red de Enfermedades Neurodegenerativas, CIBERNED (CIBER), Instituto Carlos III, Madrid, Spain; 10: Children Neuromuscular Diseases Unit, Pediatrics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain; 11: Department of Neurology, Neuromuscular Diseases Unit, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain; 12: Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, Barcelona, Spain; 13: Division of Clinical Microbiology, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden; 14: Department of Clinical Movement Neurosciences, Royal Free Campus, University College of London, Queen Square Institute of Neurology, London, UK; 15: Neuromuscular Unit, Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona, Spain; 16: Neuropediatra, Neurolinkia & Hospital Viamed Santa Ángela De la Cruz, Sevilla, Spain; 17: Neuromuscular Diseases Unit, Neurology Department, Hospital Universitario Virgen del Rocío/ Instituto de Biomedicina de Sevilla, Sevilla, Spain

The mitoDdCBE system as a mitochondrial gene therapy approach

Jose Domingo Barrera-Paez¹, Sandra R. Bacman¹, Till Balla², Beverly Mok³, David Liu³, Danny Nedialkova², Carlos T. Moraes¹

1: University of Miami, United States of America; 2: Max Planck Institute of Biochemistry, Germany; 3: Broad Institute, Harvard University, and HHMI, United States of America

Genetic variants impact on NQO1 expression and activity driving efficacy of idebenone treatment in Leber’s hereditary optic neuropathy cell models

Valentina Del Dotto¹, Serena Jasmine Aleo¹, Martina Romagnoli², Claudio Fiorini², Giada Capirossi¹, Camille Peron³, Alessandra Maresca², Leonardo Caporali², Mariantonietta Capristo², Concetta Valentina Tropeano², Claudia Zanna¹, Anna Maria Porcelli⁴, Giulia Amore², Chiara La Morgia^1,2, Valeria Tiranti³, Valerio Carelli^1,2, Anna Maria Ghelli⁴

1: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 2: IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; 3: Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; 4: Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.

Peptide mimetic molecules as potential therapeutic agents against diseases related to mt-tRNA point mutations.

Annalinda Pisano¹, Luciana Mosca², Maria Gemma Pignataro¹, Veronica Morea³, Giulia d'Amati¹

1: Department of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, Italy; 2: Department of Biochemical Sciences "A. Rossi Fanelli, Sapienza University of Rome, Italy; 3: Institute of Molecular Biology and Pathology (IBPM), National Research Council (CNR) of Italy

Clinical trials for Leber hereditary optic neuropathy

Nancy J. Newman

Emory University School of Medicine, United States of America

Development of deoxynucleoside therapy for mitochondrial DNA depletion/deletions syndrome

Michio Hirano¹, Caterina Garone², Carlos López-Gomez³, Cristina Domínguez-Gónzalez⁴, Ramon Martí⁵, Agustin Hidalgo-Gutierrez¹

1: Columbia University Irving Medical Center, New York, USA, United States of America; 2: University of Bologna, Bologna, Italy; 3: Univerity of Malaga, Malaga, Spain; 4: University Hospital, 12 de Octubre, Madrid, Spain; 5: Vall d’Hebron Institut de Recerca, Barcelona, Spain

Histopathological and molecular characterization in ocular post-mortem analyses following AAV2 gene therapy for LHON

Valerio Carelli¹, Leonardo Caporali¹, Fred Ross-Cisneros², Elisa Boschetti³, Nancy J. Newman⁴, Valérie Biousse⁴, Henry Liu⁵, Philippe Ancian⁶, Magali Taiel⁷, Alfredo A. Sadun²

1: IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 2: Doheny Eye Institute, UCLA School of Medicine, Los Angeles, CA, USA; 3: IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; 4: Departments of Ophthalmology, Neurology and Neurological Surgery, Emory University School of Medicine, Atlanta, GA, USA; 5: Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada; 6: Charles River Laboratories, Evreux, France; 7: Gensight Biologics, Paris, France

Combatting myopathy in m.3243A>G mutation carriers: first in human transplantation of autologous mesoangioblasts

Florence H.J. van Tienen^1,2, Janneke G.J. Hoeijmakers^2,3, Christiaan van der Leij^4,5, Erika Timmer^1,5, Nikki Wanders^1,2, Fong Lin⁶, Susanne P.M. Kortekaas⁶, Inge M. Westra⁶, Pauline Meij⁶, Appie Wijnen⁷, Wouter M.A. Franssen⁸, Bert O. Eijnde⁸, Catharina G. Faber^2,3, Irenaeus F.M. de Coo^1,2,9, Hubert J.M. Smeets^1,2,5

1: Department of Toxicogenomics, Maastricht University Medical Centre+, Maastricht, The Netherlands; 2: School for Mental Health and Neurosciences (MHeNS), Maastricht University Medical Centre+, Maastricht, The Netherlands; 3: Department of Neurology, Maastricht University Medical Centre+, Maastricht, The Netherlands; 4: Department of Radiology, Maastricht University Medical Centre+, Maastricht, The Netherlands; 5: School for Developmental Biology and Oncology (GROW), Maastricht University Medical Centre+, Maastricht, The Netherlands; 6: Center for Cell and Gene Therapy (CCG), Leiden University Medical Center, Leiden, The Netherlands; 7: Department of Rehabilitation Medicine, Maastricht University Medical Centre+, Maastricht, The Netherlands; 8: SMRC – Sports Medicine Research Center, BIOMED - Biomedical Research Institute, Faculty of Medicine and Life Sciences, Hasselt University, Diepenbeek, Belgium; 9: Neuromuscular and Mitochondrial research center (NeMo), Rotterdam/Maastricht, The Netherlands

PHEMI: Phenylbutyrate Therapy in Mitochondrial Diseases with lactic acidosis: an open label clinical trial in MELAS and PDH deficiency patients.

Silvia Marchet¹, Anna Ardissone², Krisztina Einvag¹, Daniele Sala¹, Eleonora Lamantea¹, Giulia Cecchi³, Vincenzo Montano³, Piervito Lopriore³, Maria Pia Iermito¹, Michelangelo Mancuso³, Costanza Lamperti¹

1: Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Experimental Neuroscience, Unit of Medical Genetics and Neurogenetics, Milan, Italy; 2: Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Pediatric Neurosciences, Milan, Italy; 3: Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

Niacin treatment improves metabolic changes in early-stage mitochondrial myopathy

Kimmo Haimilahti^1,2, Lilli Pihlajamäki¹, Mari Auranen³, Niina Urho³, Päivi Piirilä⁴, Antti Hakkarainen⁵, Min Ni⁶, Kirsi Pietiläinen^7,8, Ralph DeBerardinis⁶, Nahid A. Khan¹, Anu Suomalainen^1,9

1: Research Program for Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 2: Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 3: Department of Neurosciences, Helsinki University Hospital, Helsinki, Finland; 4: Department of Clinical Physiology and Nuclear Medicine, Laboratory of Clinical Physiology, Helsinki University Hospital, Helsinki, Finland; 5: HUS Diagnostic Center, Radiology, Helsinki University and Helsinki University Hospital, Helsinki, Finland; 6: Children’s Research Institute, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America; 7: Obesity Research Unit, Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 8: Healthy Weight Hub, Abdominal Center, Endocrinology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland; 9: Helsinki University Hospital Diagnostic Centre, Helsinki, Finland

Use of lenadogene nolparvovec gene therapy for Leber hereditary optic neuropathy in early access programs

Chiara La Morgia¹, Catherine Vignal-Clermont², Valerio Carelli¹, Michele Carbonelli²³, Rabih Hage³, Mark L. Moster⁴, Robert C. Sergott⁴, Sean P. Donahue⁵, Patrick Yu-Wai-Man⁶, Hélène Dollfus⁷, Thomas Klopstock⁸, Claudia Priglinger⁹, Vasily Smirnov¹⁰, Giulia Amore²³, Martina Romagnoli¹, Catherine Cochard¹¹, Marie-Benedicte Rougier¹², Emilie Tournaire-Marques¹², Pierre Lebranchu¹³, Caroline Froment¹⁴, Frederic Pollet-Villard¹⁵, Marie-Alice Laville¹⁶, Claudia Prospero Ponce¹⁷, Scott D. Walter¹⁸, Francis Munier¹⁹, Pauline Zoppe²⁰, Michel Roux²¹, Magali Taiel²¹, José-Alain Sahel²²

1: IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 2: Department of Neuro Ophthalmology and Emergencies, Rothschild Foundation Hospital, Paris, France; 3: Centre Hospitalier National d’Ophtalmologie des Quinze Vingts, Paris, France; 4: Departments of Neurology and Ophthalmology, Wills Eye Hospital and Thomas Jefferson University, Philadelphia, PA, USA; 5: Department of Ophthalmology, Neurology, and Pediatrics, Vanderbilt University, and Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN, USA; 6: Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; 7: Institut de Génétique Médicale d’Alsace, CHU de Strasbourg, Strasbourg, France; 8: Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilians-University, Munich, Germany; 9: University Hospital, Ludwig-Maximilians-University, Munich, Germany; 10: Service Explorations de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France; 11: Service d'Ophtalmologie, CHU de Rennes, Rennes, France; 12: Service d'Ophtalmologie, CHU de Bordeaux, Groupe Hospitalier Pellegrin, Bordeaux, France; 13: Service d'Ophtalmologie, CHU de Nantes, Nantes, France; 14: Service de Neuro-Cognition et Neuro-Ophtalmologie, CHU de Lyon, Lyon, France; 15: Service d'Ophtalmologie, Centre Hospitalier de Valence, Valence, France; 16: Service d'Ophtalmologie, CHU de Caen, Caen, France; 17: Department of Ophthalmology, Blanton Eye Institute, Houston Methodist Hospital, Houston, Texas, USA; 18: Retina Consultants, P.C, Hartford, Connecticut, USA; 19: Service d'Ophtalmologie, Hôpital Ophtalmique Jules-Gonin, Lausanne, Switzerland; 20: Centre Hospitalier de Wallonie Picarde, Tournai, Belgium; 21: GenSight Biologics, Paris, France; 22: Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; 23: Department of Biomedical and Neuromotor Sciences, DIBINEM, Bologna, Italy

Mitochondrial replacement in action

Mary Herbert^1,2, Louise Hyslop², Yuko Takeda¹, Magomet Aushev¹, Meenakshi Choudhary², Jane Stewart²

1: Newcastle University, United Kingdom; 2: Newcastle Fertility Centre

The therapeutic potential of mitochondrial genome engineering

Michal Minczuk

MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK

MitoKO: A library of base editors for the precise ablation of all protein-coding genes in the mouse mitochondrial genome

Pedro Silva-Pinheiro, Christian D. Mutti, Lindsey Van Haute, Christopher A. Powell, Pavel A. Nash, Keira Turner, Michal Minczuk

MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK

Risk of mtDNA reversal among children born after mitochondrial replacement therapy

Shoukhrat Mitalipov¹, Nuria Marti Gutierrez²

1: Oregon Health & Science University, United States of America; 2: Center for Embryonic Cell and Gene Therapy, Oregon Health and Science University, United States of America

Specific elimination of m.3243A>G mutant mitochondria DNA using mitoARCUS

Wendy K. Shoop^1,2, Cassandra L. Gorsuch¹, Emma Sevigny¹, Sandra R. Bacman², Janel Lape¹, Jeff Smith¹, Derek Jantz¹, Carlos T. Moraes²

1: Precision BioSciences - Durham, NC, United States of America; 2: University of Miami - Miami, FL, United States of America

MitoCRISPR/Cas9 shifts mtDNA heteroplasmy not as effective as other site-specific nucleases.

Elvira Zakirova^1,2, Ilya Mazunin³, Elena Kiseleva², Ksenia Morozova^1,2, Konstantin Orishchenko^1,2

1: Novosibirsk State University, Novosibirsk, Russia; 2: Institute of Cytology and Genetics SB RAS, Novosibirsk, Russia; 3: Skolkovo Institute of Science and Technology, Moscow, Russia

Prenatal diagnostics for a family with 13513G>A mtDNA mutation associated with Leigh Syndrome

Crystal M Van Dyken¹, Amy Koski¹, Hong Ma¹, Nuria Marti Gutierrez¹, Aleksei Mikhalchenko¹, Rebecca Tippner-Hedges¹, Daniel Frana¹, Paula Amato², Shoukhrat Mitalipov¹

1: Center for Embryonic Cell and Gene Therapy, Oregon Health and Science University, United States of America; 2: Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology, Oregon Health and Science University, United States of America

Precision Medicine Applied to Leigh Syndrome: development of an In Utero fetal gene therapy approach

Alessia Di Donfrancesco¹, Anastasia Giri², Simona Boito², Ivano Di Meo¹, Alessia Adelizzi¹, Carlo Viscomi³, Massimo Zeviani⁴, Valeria Tiranti¹, Roberto Duchi⁵, Cesare Galli⁵, Nicola Persico², Dario Brunetti^1,6

1: Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Italy; 2: Fetal Medicine and Surgery Service, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; 3: Department of Biomedical Sciences, University of Padova, Italy; 4: Department of Neurosciences, University of Padova, Italy; 5: Laboratorio di Tecnologie della Riproduzione, Avantea, Cremona, Italy; 6: Department of Medical Biotechnology and Translational Medicine, University of Milan, Italy

AAV-based liver-targeted gene therapy for MNGIE: proposal for a clinical trial

Jelle van den Ameele^1,2, Emma Cutting², Ramon Marti³

1: MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK; 2: Department of Clinical Neuroscience, University of Cambridge, Cambridge, UK; 3: Vall d’Hebron Research Institute, Universitat Autònoma de Barcelona, and Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Catalonia

Experimental model for studying clinical variability of Thymidine Kinase 2 deficiency with induced pluripotent stem cells

Erika Santi¹, Sara Resciniti¹, Gaia Tioli², Sara Carli¹, Flavia Palombo³, Luisa Iommarini², Caterina Garone^1,4

1: Alma Mater Studiorum University of Bologna, Department of Medical and Surgical Sciences, Bologna, Italy; 2: Alma Mater Studiorum University of Bologna, University of Bologna, Department of Pharmacy and Biotechnology, Bologna, Italy; 3: IRCCS Istituto delle Scienze Neurologiche, Programma di Neurogenetica, Bologna, Italy; 4: IRCCS Istituto delle Scienze Neurologiche, UOC Neuropsichiatia dell'età pediatrica, Bologna, Italy

Mitochondrial genome variability in COVID-19 patients

Alessia Fiorentino¹, Claudio Fiorini¹, Danara Ormandekova¹, Alessandro Mattiaccio², Paola Dimartino², Edoardo Spagnolo², Orchestra Genomics Group¹, Maddalena Giannella³, Pierluigi Viale³, Zaira R. Palacios-Baena⁴, Tommaso Pippucci⁵, Marco Seri^2,5, Leonardo Caporali⁶, Valerio Carelli^1,6

1: Azienda USL di Bologna - IRCCS Istituto delle scienze Neurologiche di Bologna, Italy, Italy; 2: Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, BO, Italy; 3: Infectious Diseases Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; 4: Unit of Infectious Diseases and Clinical Microbiology, University Hospital Virgen Macarena, Institute of Biomedicine of Seville (IBIS)/CSIC, Seville, Spain; 5: Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; 6: Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy

Decoding the role of optic atrophy1 (OPA1) non-synonymous single nucleotide polymorphisms in mitochondrial DNA maintenance defects

Cuckoo Teresa Jetto, Vissapragada Madhuri, Ritoprova Sen, Ravi Manjithaya

Jawaharlal Nehru Centre for Advanced Scientific Research, India

Feasibility, safety, and efficacy of Ketogenic Diet in patients with mitochondrial myopathy

Heidi. E.E. Zweers^1,2, Sophie H. Kroesen³, Gijsje Beerlink^1,2, Elke Buit^2,4, Karlijn Gerrits^1,2, Astrid Dorhout^1,2, Annemiek M.J. van Wegberg^1,2, Mirian C.H. Janssen^2,4, Saskia B. Wortmann^2,5, Silvie Timmers⁶, Christiaan Saris^2,7

1: Department of Gastroenterology and Hepatology-Dietetics, Radboudumc, Nijmegen, The Netherlands; 2: Radboud Centre for Mitochondrial Medicine (RCMM) , Nijmegen, The Netherlands; 3: Department of Physiology, Radboudumc, Nijmegen, The Netherlands; 4: Department of Internal Medicine, Radboudumc, Nijmegen, The Netherlands; 5: University Children’s Hospital, Paracelsus Medical University, Salzburg, Austria; 6: Human and Animal Physiology, Wageningen University, The Netherlands; 7: Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands

Degrading factors of mitoribosome quality control and their mitigation of translation-induced stress

Jonathan Meyrick¹, Uwe Richter^1,2, Ana Andjelkovic¹, Omid Safronov², Rob Taylor¹

1: Wellcome Centre for Mitochondrial Research, United Kingdom; 2: University of Helsinki

Mitochondrial DNA Double-Strand Breaks lead to the formation of mtDNA deletions which are increased by MgmeI knockout in vivo.

Tania Arguello-Saenz, Nadee Nissanka, Carlos Moraes

University of Miami, United States of America

Mutating the binding interphases of SLIRP and LRPPRC uncover specific roles for these proteins in optimizing mitochondrial translation.

Diana Rubalcava-Gracia¹, Fredrik Levander², Camilla Koolmeister¹, Nils-Göran Larsson¹

1: Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden; 2: National Bioinformatics Infrastructure Sweden (NBIS), Science for Life Laboratory, Lund University, Lund 223 87, Sweden

A disease-causing mutation (p.F907I) reveals a novel pathogenic mechanism for POLG-related diseases.

Bertil Macao¹, Direnis Erdinc¹, Sebastian Valenzuela¹, Nicole Lesko², Karin Naess², Helene Bruhn², Anna Wedell², Anna Wredenberg³, Maria Falkenberg¹

1: University of Gothenburg, Sweden; 2: Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; 3: Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden

Mitoribosome intrinsic GTPase mS29 acts as a non-canonical molecular switch to facilitate mitochondrial translation

Samuel Louis Del'Olio¹, Vivek Singh², Alexey Amunts², Antoni Barrientos¹

1: University of Miami, United States of America; 2: Stockholm University, Sweden

Nucleoside supplementation in a zebrafish model of RRM2B mitochondrial DNA depletion syndrome alleviates disease associated symptoms.

Benjamin Munro, Declan Hines, Juliane Müller, Rita Horvath

Department of Clinical Neurosciences, University of Cambridge, United Kingdom

Non-stop mRNAs generate a ground state of mitochondrial gene expression noise

Guleycan Lutfullahoglu Bal, Brendan J. Battersby

Institute of Biotechnolgy, University of Helsinki, Finland

Biochemical characterisation of pathological TOP3A variants associated with adult-onset mitochondrial disease

Alejandro Rodriguez Luis^2,3, Direnis Erdinc¹, Mahmoud R. Fassad^2,4, Sarah Mackenzie⁵, Christopher M. Watson^6,7, Sebastian Valenzuela¹, Xie Xie¹, Katja E. Menger^2,3, Kate Sergeant⁸, Kate Craig^2,9, Sila Hopton^2,9, Gavin Falkous^2,9, Joanna Poulton¹⁰, Hector Garcia-Moreno¹¹, Paola Giunti¹¹, Carlos A. de Moura Aschoff¹², Jonas A. Morales Saute^12,13,14, Amelia J. Kirby¹⁵, Camilo Toro¹⁶, Lynne Wolfe¹⁶, Danica Novacic¹⁶, Lior Greenbaum^17,18,19, Aviva Eliyahu^17,19, Ortal Barel²⁰, Yair Anikster^19,21, Robert McFarland^2,4, Gráinne S. Gorman^2,4, Andrew M. Schaefer^2,9, Claes M. Gustafsson^1,22, Robert W. Taylor^2,4,9, Maria Falkenberg¹, Thomas J. Nicholls^2,3

1: Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden; 2: Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne; 3: Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne; 4: Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne; 5: The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; 6: North East and Yorkshire Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, UK.; 7: Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK.; 8: Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; 9: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne; 10: Nuffield Department of Women’s & Reproductive Health, The Women's Centre, University of Oxford, Oxford, UK.; 11: Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London; 12: Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil; 13: Department of Internal Medicine, Universidade Federal do Rio Grande do Sul - Porto Alegre, Brazil.; 14: Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul - Porto Alegre, Brazil.; 15: Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, USA; 16: Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; 17: The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.; 18: The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Israel; 19: The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; 20: Genomics Unit, The Center for Cancer Research, Sheba Medical Center, Israel.; 21: Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; 22: Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden.

How hot can mitochondria be? Incubation at temperatures above 43 ºC induces the degradation of respiratory complexes and supercomplexes in intact cells and isolated mitochondria

Raquel Moreno-Loshuertos^1,2, Joaquín Marco-Brualla^1,3, Patricia Meade^1,2, Ruth Soler-Agesta¹, José Antonio Enriquez^4,5, Patricio Fernández-Silva^1,2

1: Department of Biochemistry and Molecualr and Cellular Biology, Universidad de Zaragoza, Spain; 2: Institute for Biocomputation and Physics of Complex Systems (BIFI), Zaragoza, Spain; 3: Peaches Biotech Group, Madrid, Spain; 4: Fundación Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain; 5: Centro de Investigaciones Biomédicas en Red en Fragilidad y Envejecimiento Saludable, Madrid, Spain

Inhibition of mitochondrial protein Synthesis induces Biosynthesis of oxidative phosphorylation Complex V

Seungtae Lee, Jana Aref, Jan-Willem Taanman

University College London, United Kingdom

Linear DNA driven recombination in human mitochondria.

Georgios Fragkoulis¹, Anu Hangas¹, Craig Mitchel², Carlos Moraes³, Smaranda Wilcox⁴, Jack Griffiths⁴, Steffi Goffart¹, Jaakko Pohjoismäki¹

1: University of Eastern Finland, Finland; 2: King Abdullah University of Science and Technology (KAUST); 3: University of Miami Miller School of Medicine; 4: University of North Carolina at Chapel Hill

Mitochondrial Topoisomerase 1 in ribonucleotide removal and mtDNA stability

Cyrielle Bader, Erika Kasho, Josefin M. E. Forslund, Katarzina Niedzwiecka, Paulina H. Wanrooij

Umeå University, Sweden

The (in)fidelity of human mitochondrial gene expression

Brendan James Battersby

University of Helsinki, Finland

The role of mitochondrial RNA polymerase in mtDNA replication priming

Georgios Fragkoulis, Anu Hangas, Steffi Goffart

University of Eastern Finland, Finland

Mitochondrial content is significantly reduced during the early stages of human pluripotent stem cell differentiation

Ruben Torregrosa-Muñumer, Jeremi Turkia, Jana Pennonen, Erika Rannila, Jonna Saarimäki-Vire, Timo Otonkoski, Henna Tyynismaa

University of Helsinki, Finland

Loss of RNase H1 in early B cell development induces mitochondrial-based dysfunction

Robert Joseph Crouch¹, Kiran Sakhuja¹, Caitlin Darling¹, Lionel Sanz¹, Hyongi Chon¹, Stella R Hartono², James Iben¹, Louis Dye¹, Susana Martinez Cerritelli¹, Frederic Chedin²

1: DIR Eunice Kennedy Shriver National Institute of Child Health and Human Devlopment; 2: Department of Molecular and Cellular Biology, University of Califofnia, Davis

New insights into late-maturation steps of the human mitochondrial small ribosomal subunit

Marleen Heinrichs^1,2, Anna Franziska Finke¹, Hauke Hillen^1,2, Ricarda Richter-Dennerlein^1,2

1: Department of Cellular Biochemistry, University Medical Center Goettingen, Goettingen, Germany; 2: Cluster of Excellence “Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells” (MBExC), University of Goettingen, Goettingen, Germany

Early-stages during large mitoribosomal subunit assembly

Venkatapathi Challa¹, Elena Lavdovskaia^1,2, Paula Prado¹, Hauke Hillen^1,2, Ricarda Richter-Dennerlein^1,2

1: University Medical Center Göttingen, Germany; 2: Cluster of Excellence (MBExC), University of Göttingen, Germany

Effect of post-transcriptional modifications of tRNAMet on mitochondrial codon recognition

Gantavya Arora, Kärt Denks, Ekaterina Samatova, Marina Rodnina

Max Planck Institute of Multidisciplinary Sciences, Göttingen, Germany

Establishing the OPA1 role in the mtDNA maintenance in cell models of Dominant Optic Atrophy (DOA)

Penelope Magnoni¹, Serena Jasmine Aleo², Valentina Del Dotto², Javier Ramón³, Claudia Zanna², Ramon Martí³, Alessandra Maresca¹, Valerio Carelli^1,2

1: IRCCS, Istituto delle Scienze Neurologiche di Bologna, Italy - Programma di Neurogenetica; 2: DIBINEM, Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Italy; 3: Vall d'Hebron Research Institute, Centro de Investigación Biomédica en Red de Enfermedades Raras-CIBERER, Autonomous University of Barcelona, Barcelona, Spain

Mutations affecting the relation between mtDNA synthesis and proofreading by POLγ

Sebastian Valenzuela, Emily Hoberg, Giorgia Ortolani, Ulrika Alexandersson, Bertil Macao, Maria Falkenberg

Department of Medical Biochemistry and Cell Biology, University of Gothenburg, P.O. Box 440, SE-405 30 Gothenburg, Sweden

Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation

Taru Hilander¹, Geoffray Monteuuis², Ryan Awadhpersad², Krystyna L. Broda¹, Max Pohjanpelto³, Elizabeth Pyman¹, Sachin K. Singh⁴, Tuula A. Nyman⁴, Isabelle Crevel⁵, Robert W. Taylor^6,7, Ann Saada⁸, Diego Balboa^9,10, Brendan J. Battersby¹¹, Christopher B. Jackson², Christopher J. Carroll¹

1: Genetics Section, Molecular and Clinical Sciences, St George’s, University of London, London, United Kingdom; 2: Department of Biochemistry and Developmental Biology, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 3: Research Programs Unit, Molecular Neurology, Biomedicum, University of Helsinki, • Helsinki, Finland; 4: Department of Immunology, Institute of Clinical Medicine, University of Oslo and Oslo, University Hospital, Oslo, Norway; 5: Core Facilities, St George’s, University of London, London, United Kingdom.; 6: Wellcome Centre for Mitochondrial Research, Translational and Clinical Research • Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; 7: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 8: Department of Genetics, Hadassah Medical Center & Faculty of Medicine, Hebrew University of Jerusalem. 9112001 Jerusalem Israel.; 9: Bioinformatics and Genomics Program, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain; 10: Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Barcelona, Spain; 11: Institute of Biotechnology, University of Helsinki, Helsinki, Finland

The role of mL45 N-terminus in mitochondrial translation under standard and stress conditions

Eva Nyvltova, Katerina Percy, Michele Brischigliaro, Antonio Barrientos

Department of Neurology, University of Miami, Miller School of Medicine, FL, USA

Characterization of human mitochondrial translation elongation and ribosome recycling factors mtEFG1 and mtEFG2

Céline Bail, Kärt Denks, Shreya A. Ayyub, Marina V. Rodnina

Max-Planck Institute for Multidisciplinary Sciences, Germany

Knock-out of OGG1 in HEK293 cells does not alter the formation of single strand breaks in mitochondrial DNA upon H2O2 treatment

Afaf M. Said¹, Gábor Zsurka^1,2, Genevieve Trombly¹, Wolfram S. Kunz^1,2

1: Institute of Experimental Epileptology and Cognition Research, University of Bonn, Germany; 2: Department of Epileptology, University Hospital Bonn, Germany

Ligase 3 is indispensable for repair of oxidative lesions of mtDNA but dispensable for circular genome end ligation

Wolfram S. Kunz, Genevieve Trombly, Afaf Milad Said, Alexei P. Kudin, Gábor Zsurka

University Bonn, Department of Epileptology, Germany

Modulation of mtDNA heteroplasmy through endosomal-mitophagy

Aylin Gökmen^1,2, Mari Bonse^1,2, Parisa Kakanj³, Rudolf Wiesner^1,2, David Pla-Martín^1,2

1: Institute of Physiology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany; 2: Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany; 3: Institute of Genetics, University of Cologne, Germany

The role of mitoSAM in mitochondrial gene expression

Ruth Inge Carlton Glasgow¹, Florian Rosenberger², Vivek Singh¹, Alissa Willhalm³, David Moore¹, Marco Moedas^1,4, Miriam Cipullo¹, Joanna Rorbach¹, Anna Wedell⁴, Ilian Atanassov⁵, Alexey Amunts³, Christoph Freyer¹, Anna Wredenberg^1,4

1: Division of Molecular Metabolism, Karolinska Institutet, Stockholm, Sweden; 2: Max Planck Institute of Biochemistry, Munich, Germany; 3: Science for Life Laboratory, Department of Biochemistry and Biophysics, Stockholm University, Sweden; 4: Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; 5: Proteomics Core Facility, Max Planck Institute for Biology of Ageing, Cologne, Germany

The slumbering mitochondrion awakes: monitoring mitochondrial gene expression during oocyte and early embryo development

Olga Gumenyuk^1,2, Mary Herbert¹, Robert N. Lightowlers², Zofia M. A. Chrzanowska-Lightowlers²

1: Newcastle Fertility Centre, International Centre for Life, Newcastle upon Tyne, NE1 3BZ, United Kingdom; 2: Wellcome Centre for Mitochondrial Research, Newcastle University Biosciences Institute, Newcastle upon Tyne, NE2 4HH, United Kingdom

How mitochondrial DNA metabolism shapes cellular senescence

Valentin L'Hôte, Sjoerd Wanrooij

Department of Medical Biochemistry and Biophysics, Umeå University, Umeå 90736, Sweden

Processing of stalled replication forks in mitochondria

Koit Aasumets, Jaakko Pohjoismäki, Steffi Goffart

University of Eastern Finland, Finland

Stochastic survival of the densest accounts for the expansion of mitochondrial mutations in the ageing of skeletal muscle fibres

Ferdinando Insalata¹, Hanne Hoitzing¹, Juvid Aryaman¹, Nick Jones^1,2

1: Department of Mathematics, Imperial College London, United Kingdom; 2: EPSRC Centre for the Mathematics of Precision Healthcare, Imperial College London, United Kingdom

Top3α is the replicative topoisomerase in mitochondrial DNA replication

Anu Hangas¹, Alisa Potter^1,2, Craig Michell¹, Johannes Spelbrink², Jaakko Pohjoismäki¹, Steffi Goffart¹

1: University of Eastern Finland, Finland; 2: Radboud Center for Mitochondrial Medicine, Department of Paediatrics, Radboudumc, Nijmegen, The Netherlands

Mitochondrial-nuclear compatibility in hare cybrids

Riikka Pauliina Tapanainen¹, Jaakko Pohjoismäki¹, Kateryna Gaertner², Eric Dufour², Craig Michell¹, Sina Saari²

1: University of Eastern Finland, Finland; 2: Tampere University, Finland

Identification of drugs for the treatment of POLG-related diseases by means of a high throughput drug repurposing approach performed in Saccharomyces cerevisiae

Enrico Baruffini¹, Tiziana Lodi¹, Raquel Brañas Casas², Giovanni Risato², Francesco Argenton², Natascia Tiso², Alexandru Ionut Gilea¹

1: Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy; 2: Department of Biology, University of Padova, Padova, Italy

Mitochondrial genome replacement can rejuvenate aging cells

Toshihiko Taya, Akira Shikuma, Ryotaro Maeda, Daisuke Kami, Satoshi Gojo

Kyoto prefectural University of Medicine, Japan

Project pearl: raising the profile of mitochondrial disease

Lyndsey Butterworth, Renae Stefanetti, Julie Murphy, Amanda Temby, Grainne Gorman

Wellcome Centre for Mitochondrial Research, Newcastle University, United Kingdom

Innovative technology for regulating mitochondrial function in host cells

Yuma Yamada^1,2, Momo Ito¹, Mitsue Hibino^1,3, Daisuke Sasaki⁴, Hideyoshi Harashima¹

1: Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan; 2: FOREST Program, Japan Science and Technology Agency Japan, Saitama, Japan; 3: Faculty of Engineering, Hokkaido University, Sapporo, Japan; 4: Department of Pediatrics, Graduate School of Medicine, Hokkaido University, Sapporo, Japan

CNS gene therapy in a mouse model of complex I encephalopathy

Brittni Rae Walker, Milena Pinto, Lise-Michelle Theard, Sandra R Bacman, Carlos T Moraes

University of Miami, United States of America

Strategies for fighting mitochondrial diseases: AAV-based gene therapy

Samantha Corra'^1,2, Raffaele Cerutti^1,2, Valeria Balmaceda^1,3, Carlo Viscomi^1,3, Massimo Zeviani^1,2

1: Venetian Institute of Molecular Medicine, Padova; 2: Department of Neuroscience, University of Padova; 3: Department of Biomedical Sciences, University of Padova

Cannabidiol ameliorates mitochondrial disease via PPARgamma activation

Emma Puighermanal¹, Marta Luna¹, Andrea Urpi¹, Patrizia Bianchi¹, Isabella Appiah¹, Laura Rodríguez-Pascau², Fabien Menardy¹, Alex Gella¹, Paula Tena-Morraja³, Mariona Alberola⁴, Maria Helena de Donato¹, Gunter van der Walt¹, Marc Martinell², Elisenda Sanz¹, Francesc Soriano³, Pilar Pizcueta², Albert Quintana¹

1: Neuroscience Institute, Autonomous University of Barcelona, Bellaterra, Spain; 2: Minoryx Therapeutics SL, Barcelona, Spain; 3: Celltec-UB, Departament de Biologia Cellular, Fisiologia i Immunologia, Universitat de Barcelona, Barcelona, Spain; 4: CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain

Sonlicromanol improves phenotypic changes in models of Selenoprotein N-related myopathies

Herma Renkema¹, Marnix Gorissen³, Julien Beyrath¹, Gert Flik³, Jeroen Schoorl³, Xin Li¹, Bas Pennings¹, Svetlana Pecheritsyna¹, Karlijn Bouman⁴, Nicol Voermans⁴, Ulrike Schara-Schmidt⁵, Jan Smeitink^1,2

1: Khondrion, Nijmegen, The Netherlands; 2: Department of Pediatrics, RCMM, RadboudUMC, Nijmegen, The Netherlands; 3: Radboud University, Radboud Institute for Biological and Environmental Sciences, Cluster Ecology & Physiology, Department of Animal Physiology, Nijmegen, The Netherlands; 4: Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; 5: Department of Pediatric Neurology, Centre of neuromuscular disorders in children and adolescents, University Clinic Essen, University of Duisburg-Essen, Germany

Therapeutic interventions to regulate the Q-junction, 1C metabolism and the neuroinflammatory response.

Pilar González-García¹, Mª Elena Díaz-Casado¹, Agustín Hidalgo-Gutiérrez¹, Laura Jiménez-Sánchez², Eliana Barriocanal-Casado¹, Luis C López¹

1: Physiology Department, Biomedical Research Center, University of Granada, Spain; 2: Ibs. Granada, Granada, Spain

Yeast as a model for searching drugs against pathologies caused by mutations in ACO2

Alexandru Ionut Gilea¹, Sonia Figuccia¹, Camilla Ceccatelli Berti¹, Claudio Fiorini², Valerio Carelli^2,3, Leonardo Caporali³, Enrico Baruffini¹

1: Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy; 2: IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, Bologna, Italy; 3: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna

MiR-181a/b modulation as a potential therapeutic approach for Stargardt disease treatment

Simona Brillante^1,2, Anna Diana¹, Volpe Mariagrazia¹, Eva Cipollaro¹, Marta Molinari^1,2, Carla Damiano^1,3, Antonietta Tarallo^1,3, Sandro Banfi^1,4, Sabrina Carrella⁵, Alessia Indrieri^1,2

1: Telethon Institute of Genetics and Medicine,Italy; 2: Institute for Genetic and Biomedical Research, CNR, Italy; 3: Department of Translational Medical Science Federico II University of Naples, Italy; 4: University of Campania Luigi Vanvitelli, Italy; 5: Ecosustainable Marine Biotechnology Department, Stazione Zoologica Anton Dohrn, Italy

MitoTALEN reduces mutant mtDNA load in the mouse CNS

Sandra R Bacman¹, Jose Domingo Barrera-Paez¹, Milena Pinto¹, James B Stewart², Carlos T Moraes¹

1: Department of Neurology, University of Miami Miller School of Medicine, Miami USA; 2: Wellcome Centre for Mitochondrial Research, Biosciences Institute, Newcastle University, Newcastle UK

Phosphodiesterase 5 inhibitors (PDE5i) as a promising treatment for MT-ATP6 associated mater-nally inherited Leigh Syndrome (MILS)

Marie-Thérèse Henke¹, Annika Zink², Annika Wittich³, Sonja Heiduschka², Giulia Pedrotti⁴, Undine Haferkamp³, Dario Brunetti⁵, Caleb Jerred², Thomas Klopstock⁶, Felix Distelmaier², Chiara La Morgia⁷, Valerio Carelli⁷, Fabian Schumacher⁸, Emanuela Bottani⁴, Ole Pless³, Markus Schuelke¹, Alessandro Prigione²

1: Charité-Universitätsmedizin Berlin, Department of Neuropediatrics, Berlin, Germany; 2: Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich Heine Universi-ty, Düsseldorf, Germany; 3: Fraunhofer Institute for Translational Medicine and Pharmacology ITMP, ScreeningPort, Hamburg, Germany; 4: University of Verona, Italy; 5: Fondazione IRCCS Instituto Neurologico "C. Besta", Milano, Italy; 6: Ludwig Maximilians University (LMU), München, Germany; 7: University of Bologna, Italy; 8: Freie Universität Berlin, Germany

The effect of mitochondrial NMNAT3 overexpression on Alzheimer’s related proteinopathies

Milena Pinto, Carlos Moraes

University of Miami, United States of America

In vitro models to test modulators of cellular NAD+ levels

Shanti Lu-Nath¹, Micol Falabella¹, Yidi Zhang¹, Manal E. Alkahtani², Mine Orlu², Robert D. S. Pitceathly^1,3

1: Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK; 2: UCL School of Pharmacy, UCL, London, UK; 3: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK

Novel small molecule improves mitochondrial function and mitophagy in a complex III deficiency model.

Cristiane Beninca¹, Lucia Fernández del Rio¹, Matheus Pinto Oliveira¹, Karel Erion², David Rincon Fernandez Pacheco⁵, Jasmine Garza², Mathew Dugan², Sophie Kantor¹, Kathleen Rodgers³, Kevin Gaffney², Amy Wang², Marc Liesa-Roig^1,4, Orian Shirihai¹

1: Department of Medicine, Division of Endocrinology, David Geffen School of Medicine, Los Angeles, USA.; 2: Capacity Bio, Los Angeles, USA; 3: Department of Pharmacology, Center for Innovations in Brain Science, University of Arizona, USA; 4: Institut de Biologia Molecular De Barcelona (IBMB-CSIC), Spain.; 5: Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, USA

Preservation of bioenergetics and inhibition of ferroptosis with the novel compound SBT-588 in Friedreich’s Ataxia cell models

Laura Elizabeth Kropp, Alyssa Handler, Hatim Zariwala, Yunmi Park, Martin Redmon, David A. Brown

Stealth BioTherapeutics, Needham, MA, United States of America

The use of a coenzyme Q10 encapsulated mitochondrial targeting lipid nanoparticle formulation has therapeutic effects on a drug-induced liver injury.

Mitsue Hibino^1,2, Masatoshi Maeki², Manabu Tokeshi², Hideyoshi Harashima¹, Yuma Yamada^1,3

1: Faculty of Pharmaceutical Sciences, Hokkaido University, Japan; 2: Faculty of Engineering, Hokkaido University, Japan; 3: Fusion Oriented REsearch for disruptive Science and Technology (FOREST) Program, Japan Science and Technology Agency (JST) Japan, Saitama, Japan

In vitro 3D model of mitochondrial myopathy human skeletal muscle

Valeria Di Leo^1,2, Xiomara Fernández-Garibay³, Ainoa Tejedera³, Javier Ramón-Azcón³, Gráinne Gorman^1,4, Oliver Russell^1,2, Amy Vincent^1,2, Juanma Fernández-Costa³

1: Wellcome Centre for Mitochondrial Research, Medical School, Newcastle University, United Kingdom; 2: Translational and Clinical Research Institute, Newcastle University, United Kingdom; 3: Institute for Bioengineering of Catalonia, The Barcelona Institute of Science and Technology, Barcelona, Spain; 4: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Royal Victoria Infirmary

Metabolic consequences for NAD+ and N- Acetyl cysteine treatment on Mitochondrial myopathy

Nahid Khan¹, Liliya Euro¹, Kimmo Haimilahti¹, Eija Pirinen², Min Ni⁴, Johan Auwerx³, Ralph DeBerardinis⁴, Anu Suomalainen^1,5

1: STEMM, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland; 2: Diabetes and Obesity Research Unit, Research Programs Unit, University of Helsinki, FIN-00290 Helsinki, Finland; 3: Laboratory of Integrative Systems Physiology, École polytechnique fédérale de Lausanne, Lausanne, Switzerland; 4: Children’s Research Institute, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America; 5: Helsinki University Hospital Diagnostic Centre, Helsinki 00260, Finland

Silencing the aberrant Coq9 mRNA in the Coq9R239X model normalizes complex Q and restores the mitochondrial phenotype.

Pilar González-García^1,2, Julio Ruiz-Travé¹, Celia Roldán-Lozano¹, Juan M. Martínez-Gálvez^1,3, Eliana Barriocanal-Casado¹, Luis C. López^1,2, Laura Jiménez-Sánchez²

1: Physiology Department, Biomedical Research Center, University of Granada, Granada, Spain; 2: Ibs.Granada, Spain; 3: Biofisika Institute (CSIC,UPV-EHU) and Department of Biochemistry and Molecular Biology, University of Basque Country, Leioa, Spain

A high-content in vitro screening to identify new mitophagy-activating compounds

Giacomo Giacchin¹, Valeria Balmaceda¹, Cristiane Benincá^2,3, Carlo Viscomi¹

1: Department of Biomedical Sciences, University of Padova, Italy; 2: Department of Medicine, Endocrinology, David Geffen School of Medicine, University of California, Los Angeles, USA; 3: Metabolism Theme, David Geffen School of Medicine, University of California, Los Angeles, USA

B-RA targets mitochondria in white adipose tissue and reverses diet-induced obesity

Elena Díaz Casado^1,2, Sergio López Herrador¹, Pilar González García^1,2, Laura Jiménez Sánchez², Sara Torres Rusillo¹, Agustín Hidalgo Gutiérrez¹, Luis Carlos López^1,2

1: Physiology Department, Biomedical Research Center, University of Granada, Granada, Spain; 2: Ibs. Granada, Granada, Spain

HIF1α is a potentially druggable target for MNGIE disease

Silvia Sabeni, Sara Carli, Francesca Ferraresi, Caterina Garone

Alma Mater Studiorum University of Bologna, Italy

Mitochondrial modulation with Leriglitazone as a potential treatment for Rett syndrome

Uliana Musokhranova, Alfonso Oyarzábal, Cristina Grau, Àngels García Cazorla

Institut de Recerca Sant Joan de Déu, Spain

New nutritional therapies for mitochondrial diseases

Borja Fernández García¹, Marcello Bellusci^1,2,4,7,, Jesús González de la Aleja⁶, Montserrat Morales Conejo^1,2,5,7, Elena Martín Hernández^1,2,4,7, Pilar Quijada Fraile^1,2,4,7, Delia Barrio Carreras^4,7, María Paz Guerrero Molina⁶, Joaquín Arenas^1,2, Miguel A Martín^1,2,3, María Morán^1,2

1: Mitochondrial and Neuromuscular Diseases Laboratory, Instituto de Investigación Sanitaria Hospital ‘12 de Octubre’ (‘imas12’), Madrid, Spain; 2: Spanish Network for Biomedical Research in Rare Diseases (CIBERER), U723, Spain; 3: Servicio de Genética, Hospital Universitario ‘12 de Octubre’, Madrid, Spain.; 4: Unidad Pediátrica de Enfermedades Raras, Hospital Universitario ‘12 de Octubre’, Madrid, Spain.; 5: Servicio de Medicina Interna, Hospital Universitario ‘12 de Octubre’, Madrid, Spain; 6: Servicio de Neurología, Hospital Universitario ‘12 de Octubre’, Madrid, Spain; 7: Centro Nacional de Referencia para Errores Congénitos del Metabolismo (CSUR) y Centro Europeo de Referencia para Enfermedades Metabólica Hereditarias (MetabERN), Madrid, Spain

Pyrroloquinoline quinone exerts neuroprotective effects on retinal ganglion cell degeneration

Alessio Canovai^1,2, James R Tribble¹, Melissa Jöe¹, Rosario Amato², Maurizio Cammalleri², Massimo Dal Monte², Pete A Williams¹

1: Department of Clinical Neuroscience, Division of Eye and Vision, St. Erik Eye Hospital, Karolinska Institutet, Stockholm, Sweden; 2: Department of Biology, University of Pisa, Pisa, Italy

Quinone compounds in primary mitochondrial disease: acute metabolic effects in human-derived cells in vitro

Shilan Alsaied¹, Shusuke Sekine^1,2, Irene Yee¹, Imen Chamkha^1,3, Sonia Simón Serrano^1,3, Eleonor Åsander Frostner^1,3, Magnus J. Hansson^1,3, Eskil Elmér^1,3

1: Mitochondrial Medicine, Department of Clinical Sciences, Lund University, Lund, Sweden; 2: Department of Anesthesiology, Tokyo Medical University, Tokyo 160-0023, Japan; 3: Abliva AB, Lund, Sweden

A novel therapeutic strategy for mitochondrial Leigh Syndrome

Ritsuko Nakai¹, Henyun Shi¹, Hisashi Ohta², Rick Tsai², Masashi Suganuma², Nicholas Borcherding³, Jonathan R Brestoff³, Takafumi Yokota^1,4

1: Department of Hematology and Oncology, Graduate School of Medicine, Osaka University, Osaka, Japan.; 2: Luca Science Inc., Tokyo, Japan.; 3: Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA.; 4: Department of Hematology, Osaka International Cancer Institute, Osaka, Japan.

Generation of a new neuronal model of Friedreich’s Ataxia and establishment of a drug screening strategy

Olivier Griso¹, Amélie Weiss¹, Deepika Mokkachamy Chellapandi², Hélène Puccio^1,2

1: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS UMR7104, Université de Strasbourg, France; 2: Institut NeuroMyoGene, UMR5261, INSERM U1315, Université Claude Bernard Lyon I Faculté de médecine, Lyon, France

Downregulation of miR-181a/b ameliorates the Leigh syndrome phenotype in Ndufs4 KO mice

Mariagrazia Volpe^1,2, Simona Brillante^1,3, Roberta Tammaro¹, Mariateresa Pizzo¹, Alessandra Spaziano¹, Sara Barbato¹, Maria De Risi¹, Sabrina Carrella⁴, Elvira De Leonibus^1,5, Sandro Banfi^1,6, Brunella Franco^1,7, Alessia Indrieri^1,3

1: Telethon Institute of Genetics and Medicine, Telethon Foundation, Pozzuoli (NA), Italy; 2: European School of Molecular Medicine (SEMM); 3: Institute for Genetic and Biomedical Research (IRGB), National Research Council (CNR), Milan, Italy; 4: Ecosustainable Marine Biotechnology Department, Stazione Zoologica Anton Dohrn, Naples, Italy; 5: Institute of Biochemistry and Cellular Biology (IBBC), National Research Council (CNR), Monterotondo (RM), Italy; 6: Dep. of Precision Medicine, University of Campania "L. Vanvitelli", Caserta, Italy; 7: Dep. of Translational Medicine, University of Naples "Federico II", Naples, Italy

Succinate does not increase reactive oxygen species generation in phosphorylating human mitochondria

Irene Yee¹, Alina Lenzer¹, Shusuke Sekine^1,2, Tianshi Liu¹, Imen Chamkha^1,3, Eskil Elmér^1,3, Johannes Ehinger^1,4

1: Mitochondrial Medicine, Department of Clinical Sciences, Lund University, Lund, Sweden; 2: Department of Anesthesiology, Tokyo Medical University, Tokyo, Japan; 3: Abliva, AB, Lund, Sweden; 4: Otorhinolaryngology Head and Neck Surgery, Department of Clinical Sciences, Lund University, Skåne University Hospital, Lund, Sweden

Disease modeling and drug screening of mitochondrial complex I disorders: From Podospora anserina to Human

Nolwenn Bounaix¹, Jérémy Richard¹, Olivier Baris¹, Naïg Gueguen¹, Valérie Desquiret-Dumas¹, Arnaud Chevrollier¹, Céline Bris¹, Aurélie Renaud¹, Yann Bausan¹, Laurent Monassier², Guillaume Becker², Estelle Ayme Dietrich², Marc-Alexandre Delia³, Audrey Di Giorgio³, Dominique Bonneau¹, Pascal Reynier¹, Guy Lenaers¹, Stépahne Azoulay³, Véronique Paquis-Flucklinger⁴, Déborah Tribouillard-Tanvier⁵, Nathalie Bonnefoy⁶, Agnès Delahodde⁶, Carole Sellem⁶, Vincent Procaccio¹

1: MITOVASC Institute, CNRS UMR 6015 INSERM U1083, Angers University - Angers (France); 2: Pharmacology laboratory UR7296, Strasbourg University - Strasbourg (France); 3: Côte d'Azur University, CNRS, Institute of Chemistry- Nice (France); 4: IRCAN, UMR 7284 INSERM U1081/UCA - Nice (France); 5: IBGC Institute, CNRS UMR 5095 - Bordeaux (France); 6: Institute for Integrative Biology of the Cell I2BC, UMR9198, University of Paris-Saclay - Paris (France)

Nifuroxazide rescues deleterious effects of MICOS disassembly in disease models

Sylvie Bannwarth¹, Baptiste Ropert¹, Emmanuelle EC. Genin¹, Sandra Lacas-Gervais², Blandine Madji Hounoum³, Nhu Khanh Dinh⁴, Alessandra Mauri-Crouzet¹, Marc-Alexandre D’Elia⁵, Gaelle Augé¹, Manuel Schiff⁶, Deborah Tribouillard-Tanvier⁷, Laurent Monassier⁸, Vincent Procaccio⁹, Nathalie Bonnefoy⁴, Stéphane Azoulay⁵, Jean-Ehrland Ricci³, Agnès Delahodde⁴, Véronique Paquis-Flucklinger¹

1: IRCAN, UMR 7284/INSERM U1081/UCA, Nice, France; 2: Université Côte d’Azur, Centre Commun de Microscopie Appliquée, Nice, France; 3: Université Côte d’Azur, Inserm U1065, C3M, Nice, France; 4: Université Paris Saclay, CEA, CNRS, I2BC, Gif-sur-Yvette, France; 5: Université Côte d’Azur, CNRS UMR 7272, ICN, Nice, France; 6: Université Paris Descartes-Sorbonne Paris Cité, Inserm U1163, Imagine Institute, Paris, France; 7: IBGC, UMR5095 CNRS, Bordeaux, France; 8: CRBS, UR7296, Strasbourg, France; 9: Université d'Angers, UMR CNRS 6015 – INSERM U1083, Angers, France

Lithospermum erythrorhizon complexs extract prevents dexamethasone-induced muscle atrophy in mice

Tae Youl Ha, Jiyun Ahn

Korea Food Research Institute, Korea, Republic of (South Korea)

Myocardial regeneration therapy using human cardiosphere-derived cells with activated mitochondria

Masahiro Shiraishi^1,2, Daisuke Sasaki¹, Atsuhito Takeda¹, Mitsue Hibino^2,3, Hideyoshi Harashima², Yuma Yamada^2,4

1: Department of Pediatrics, Graduate School of Medicine, Hokkaido University, Sapporo, Japan; 2: Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan; 3: Faculty of Engineering, Hokkaido University, Sapporo, Japan; 4: Fusion Oriented REsearch for disruptive Science and Technology (FOREST) Program, Japan Science and Technology Agency (JST) Japan, Saitama, Japan

Quinone compounds in primary mitochondrial disease: in vitro characterization of NQO1-mediated NAD+/NADH modulation

Imen Chamkha^1,3, Lee Webster², Steven J. Moss², Magnus J. Hansson^1,3, Eskil Elmer^1,3

1: Mitochondrial Medicine, Department of Clinical Sciences, Lund University, Lund, Sweden; 2: Isomerase Therapeutics Ltd, Chesterford Research Park, Cambridge, UK; 3: Abliva AB, Lund, Sweden

Metformin in mitochondrial disease patients cardiac cells

Outi Sanna Elina Ryytty, Katriina Kukka-Maaria Nurminen, Riikka Helena Hämäläinen

University of Eastern Finland, Finland

Mavodelpar clinical development program in adult patients with primary mitochondrial myopathy (PMM): results from Phase 1b study and design of ongoing pivotal study (STRIDE).

Robert D.S. Pitceathly^1,2, Renae J. Stefanetti^3,4, Jane Newman^3,4, Alasdair Blain^3,4, Gary Layton⁵, Nicola Regan⁶, Lynn Purkins⁶, Madhu Davies⁶, Alejandro Dorenbaum⁷, Michelangelo Mancuso⁸, Amel Karaa⁹, Gráinne Gorman^3,4

1: Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK; 2: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK; 3: Wellcome Centre for Mitochondrial Research, Newcastle University, UK; 4: NIHR Newcastle Biomedical Research Centre, Newcastle University, UK; 5: Paramstat Ltd., UK; 6: Reneo Pharma Ltd., UK; 7: Reneo Pharmaceuticals Inc., USA; 8: Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy; 9: Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA

Rationale and design of a clinical phase 2a study to evaluate the safety and efficiency of OMT-28 in primary mitochondrial disease

Anne Konkel¹, Janine Lossie¹, Luciana Summo¹, Henk Streefkerk¹, John M Seubert², Wolf-Hagen Schunck³, Robert Fischer¹

1: OMEICOS Therapeutics GmbH, Germany; 2: University of Alberta, Canada; 3: Max-Delbrueck Center for Molecular Medicine, Germany

Treatment with lenadogene nolparvovec gene therapy results in sustained visual improvement in m.11778G>A MT-ND4-LHON patients: the RESTORE study

Patrick Yu-Wai-Man¹, Nancy J. Newman², Valerie Biousse², Valerio Carelli³, Mark L. Moster⁴, Catherine Vignal-Clermont⁵, Thomas Klopstock⁶, Alfredo A. Sadun⁷, Robert C. Sergott⁴, Magali Taiel⁸, José-Alain Sahel⁹

1: Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; 2: Departments of Ophthalmology, Neurology and Neurological Surgery, Emory University School of Medicine, Atlanta, GA, USA; 3: IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 4: Departments of Neurology and Ophthalmology, Wills Eye Hospital and Thomas Jefferson University, Philadelphia, PA, USA; 5: Department of Neuro Ophthalmology and Emergencies, Rothschild Foundation Hospital, Paris, France; 6: Department of Neurology, Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilians-University Munich, Munich, Germany; 7: Doheny Eye Institute, UCLA School of Medicine, Los Angeles, CA, USA; 8: GenSight Biologics, Paris, France; 9: Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France

Current status of the phase 3 trial of dichloroacetate (DCA) for pyruvate dehydrogenase complex deficiency (PDCD)

Peter W Stacpoole¹, Kathy Dorsey²

1: University of Florida, United States of America; 2: Saol Therapeutics, United States of America

Efficacy and safety of elamipretide in subjects with primary mitochondrial disease resulting from pathogenic nuclear DNA mutations (nPMD): phase 3 study design

Amel Karaa¹, Michelangelo Mancuso²

1: Massachusetts General Hospital, Harvard Medical School Boston, MA, United States of America; 2: Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy

Long-term efficacy of idebenone in patients with LHON in the LEROS study: Analyzing change in visual acuity categories according to mitochondrial DNA mutation and disease phase

Patrick Yu-Wai-Man^1,2,3,4, Valerio Carelli^5,6, Berthold Pemp⁷, Neringa Jurkutė^3,4,8, Livia Tomasso⁹, Xavier Llòria⁹, Thomas Klopstock^10,11,12

1: John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom; 2: Cambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; 3: Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom; 4: Institute of Ophthalmology, University College London, London, United Kingdom; 5: IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 6: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 7: Department of Ophthalmology, Medical University of Vienna, Vienna, Austria; 8: The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom; 9: Chiesi Farmaceutici S.p.A., Parma, Italy; 10: German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; 11: Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; 12: Department of Neurology, Friedrich‑Baur Institute, University Hospital of the Ludwig-Maximilians-University (LMU), Munich, Germany

Long-term efficacy of idebenone in patients with LHON in the LEROS study: Analyzing change in visual acuity over time according to mitochondrial DNA mutation and disease phase

Berthold Pemp¹, Patrick Yu-Wai-Man^2,3,4,5, Valerio Carelli^6,7, Neringa Jurkutė^4,5,8, Livia Tomasso⁹, Xavier Llòria⁹, Thomas Klopstock^10,11,12

1: Department of Ophthalmology, Medical University of Vienna, Vienna, Austria; 2: John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom; 3: Cambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; 4: Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom; 5: Institute of Ophthalmology, University College London, London, United Kingdom; 6: IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 7: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 8: The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom; 9: Chiesi Farmaceutici S.p.A., Parma, Italy; 10: German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; 11: Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; 12: Department of Neurology, Friedrich‑Baur Institute, University Hospital of the Ludwig-Maximilians-University (LMU), Munich, Germany

Long-term efficacy of idebenone in patients with LHON in the LEROS study: Analyzing the impact of idebenone on rates of recovery and worsening of vision according to primary mitochondrial DNA mutation

Neringa Jurkutė^1,2,3, Patrick Yu-Wai-Man^1,2,4,5, Berthold Pemp⁶, Valerio Carelli^7,8, Xavier Llòria⁹, Livia Tomasso⁹, Thomas Klopstock^10,11,12, Alessio Amadasi⁹

1: Moorfields Eye Hospital NHS Foundation Trust, United Kingdom; 2: Institute of Ophthalmology, University College London, London, United Kingdom; 3: The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom; 4: John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom; 5: Cambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; 6: Department of Ophthalmology, Medical University of Vienna, Vienna, Austria; 7: IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 8: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 9: Chiesi Farmaceutici S.p.A., Parma, Italy; 10: German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; 11: Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; 12: Department of Neurology, Friedrich‑Baur Institute, University Hospital of the Ludwig-Maximilians-University (LMU), Munich, Germany

Enzyme replacement strategy by transplantation in MNGIE: lessons from the updated Bologna case series

Roberto D'Angelo¹, Elisa Boschetti¹, Leonardo Caporali¹, Laura Ludovica Gramegna¹, Giovanna Cenacchi¹, Raffaele Lodi¹, Maria Cristina Morelli², Matteo Cescon², Caterina Tonon¹, Alessia Pugliese³, Maria Teresa Dotti⁴, Francesco Sicurelli⁴, Mauro Scarpelli⁵, Massimiliano Filosto⁶, Carlo Casali⁷, Loris Pironi², Valerio Carelli¹, Roberto De Giorgio⁸, Rita Rinaldi¹

1: IRCCS Istituto Scienze Neurologiche di Bologna, Italy; 2: IRCCS Policlinico Sant’Orsola-Malpighi di Bologna, Bologna, Italy; 3: Department of Clinical and experimental Medicine, University of Messina, Messina, Italy; 4: Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena; 5: Institute of Neurology, University of Verona, Verona, Italy; 6: Center for Neuromuscular Diseases, Unit of Neurology, ASST "Spedali Civili", Brescia, Italy; 7: Department of Medico-Surgical Sciences and Biotechnologies, University ‘La Sapienza’, Roma, Italy; 8: Department of Morphology, Surgery and Experimental Medicine, St. Anna Hospital, University of Ferrara, Ferrara, Italy

Developing mouse models to investigate the molecular mechanisms of POLG-related diseases

Samantha Corra'^1,2, Alessandro Zuppardo^1,3, Louise Jenninger⁴, Raffaele Cerutti^1,2, Pedro Silva-Pinheiro⁵, Valeria Balmaceda^1,3, Sara Volta¹, Massimo Zeviani^1,2, Maria Falkenberg⁴, Carlo Viscomi^1,3