Conference Agenda

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

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

¹IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Italy; ²Department 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

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

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

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

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

¹IRCAN, UMR 7284/INSERM U1081/UCA, Nice, France; ²Reference 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

¹Division of Behavioral Medicine, Department of Psychiatry, Columbia University Irving Medical Center, New York NY, USA; ²Center 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; ³Division of Molecular Therapeutics, Department of Psychiatry, Columbia University Irving Medical Center, New York NY, USA; ⁴Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA; ⁵Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA; ⁶New York State Psychiatric Institute, New York NY, USA; ⁷Department 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

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

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

¹Center for Physiology and Pathophysiology, Faculty of Medicine and University Hospital Cologne, Germany; ²Medical Research Council Mitochondrial Biology Unit, University of Cambridge, UK; ³Medical Research Council Mitochondrial Biology Unit and Department of Clinical Neurosciences, Cambridge Biomedical Campus, University of Cambridge, UK; ⁴Department of Neurology, Faculty of Medicine and University Hospital Cologne, Germany; ⁵Institute of Radiochemistry and Experiment Molecular Imaging, Faculty of Medicine and University Hospital of Cologne, Germany; ⁶Department of Pediatrics and Adolescent Medicine, Experimental Neonatology, Faculty of Medicine and University Hospital Cologne, Germany; ⁷Center 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

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

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

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

¹Karolinska Institutet, Sweden; ²Max-Planck Institute of Biochemistry, Germany; ³University 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

¹Andalusian Centre for Developmental Biology (CABD). CSIC-Universidad Pablo de Olavide-Junta de Andalucía. Carretera de Utrera Km 1, 41013 Sevilla, Spain.; ²Department of Molecular Biology and Biochemical Engineering, Universidad Pablo de Olavide. Carretera de Utrera Km 1, 41013 Seville, Spain; ³Department 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

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

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

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

¹Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; ²NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne, United Kingdom; ³Centre 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

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

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

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

¹Wellcome Centre for Mitochondrial Research. Clinical and Translational Research Institute. Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, United Kingdom; ²NHS 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

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

¹Laboratory of Bioenergetics, Institute of Physiology of the Czech Academy of Sciences, Prague, Czech Republic; ²1st 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

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

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

¹Division of Metabolism, Department of Pediatric Subspecialties, Bambino Gesù Children's Hospital, Rome, Italy; ²Laboratory of Metabolic Diseases, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy; ³Unit 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

¹Wellcome Centre for Mitochondrial Research, Newcastle University, United Kingdom; ²NIHR Newcastle Biomedical Research Centre, Newcastle University; ³NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; ⁴Translational 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

¹East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; ²Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom (add-tr.mitoteam@nhs.net); ³Hereditary 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

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

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

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

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

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

¹Department of Paediatrics and Adolescent Medicine, Division of Paediatric Haematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Germany; ²Department of General Paediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, University Medical Center, University of Freiburg, Freiburg, Germany; ³Department of Paediatric Oncology, Haematology and Clinical Immunology, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany; ⁴Department of Paediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany; ⁵Medical 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

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

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

¹Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute; NIHR Newcastle Biomedical Research Centre, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; ²Department 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

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

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

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

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

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

¹Institute of Neurosciences, Autonomous University of Barcelona, Barcelona, Spain; ²Department 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

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

¹Instituto Universitario de Biología Molecular – UAM (IUBM-UAM), Departamento de Biología Molecular, Universidad Autónoma de Madrid, 28049 Madrid, Spain; ²Centro 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

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

¹Instituto Universitario de Biología Molecular – UAM (IUBM-UAM), Departamento de Biología Molecular, Universidad Autónoma de Madrid, 28049 Madrid, Spain; ²Centro 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

¹Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland; ²Institute 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

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

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

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

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

Mitochondrial thermogenesis and thermal adaptation in fibroblasts

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

¹Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland; ²Department 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

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

¹Harry Perkins Institute of Medical Research, Nedlands, Western Australia 6009, Australia; ²ARC Centre of Excellence in Synthetic Biology, QEII Medical Centre, Nedlands, Western Australia 6009, Australia; ³Centre for Medical Research, The University of Western Australia, QEII Medical Centre, Nedlands, Western Australia 6009, Australia.; ⁴Max Planck Institute for Biology of Ageing, D-50931 Cologne, Germany; ⁵Faculty of Health and Medical Sciences, Medical School, The Rural Clinical School of Western Australia, The University of Western Australia, Bunbury, Western Australia 6230, Australia; ⁶Department 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; ⁷Dobney Hypertension Centre, Medical School, The University of Western Australia, Perth, Western Australia, Australia; ⁸Australian National Phenome Centre, Centre for Computational and Systems Medicine, Health Futures Institute, Murdoch University, Harry Perkins Building, Perth, Western Australia 6150, Australia; ⁹School of Human Sciences (Physiology), The University of Western Australia, Crawley, Western Australia 6009, Australia.; ¹⁰Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales 2010, Australia.; ¹¹Curtin Medical School, Curtin University, Bentley, Western Australia 6102, Australia; ¹²Curtin Health Innovation Research Institute, Curtin University, Bentley, Western Australia 6102, Australia.; ¹³Telethon 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

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

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

¹University of Helsinki, Finland; ²Nadmed Ltd, Helsinki, Finland; ³NGM 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

¹Neurobiology of Aging Lab, CEBICEM, Universidad San Sebastián, Chile; ²Centro Ciencia & Vida, Fundación Ciencia & Vida, Chile.; ³Escuela 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

¹Inherited 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; ²Internal Medicine Unit, Hospital Clínic of Barcelona, 08036 Barcelona, Spain; ³Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain; ⁴BCNatal—Barcelona Centre for Maternal-Foetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Déu), IDIBAPS, University of Barcelona, 08036 Barcelona, Spain; ⁵Medicine 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

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

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

¹Leibniz Research Institute for Environmental Medicine (IUF), Düsseldorf, Germany; ²Humboldt-Universität zu Berlin, Berlin, Germany; ³Institute of Clinical Medicine, Department of Clinical Molecular Biology, University of Oslo, Norway; ⁴Institute 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

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

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

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

¹DOJINDO LABORATORIES; ²Gunma 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

¹Institute of Biotechnology; ²Biomedical Research Centre; ³University 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

¹Departamento de Fisiología, Facultad de Medicina, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.; ²Instituto de Investigación Biosanitaria de Granada (Ibs.Granada), Granada, Spain.; ³Centro 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

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

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

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

¹National Institute of Chemical Physics and Biophysics, Estonia; ²North 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

¹Institute of Biotechnology, Biomedical Research Center, Health Sciences Technology Park, University of Granada, Granada, Spain; ²Department of Physiology, Faculty of Medicine, University of Granada, Granada, Spain; ³Centro 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

¹University Hospital of Friedrich-Schiller-University Jena, Germany; ²The University of Toledo, Toledo, OH; ³University 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

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

¹Departamento de Fisiología, Facultad de Medicina, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.; ²Instituto de Investigación Biosanitaria de Granada (Ibs.Granada), Granada, Spain.; ³Centro 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

¹Laboratory of Bioenergetics, Institute of Physiology, Czech Academy of Sciences, Czech Republic; ²Laboratory 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

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

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

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

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

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

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

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

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

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

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

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

Gráinne Gorman¹, Michelangelo Mancuso²

¹Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom; ²University 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

¹Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK; ²Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK; ³National Disease Registration Service, NHS Digital, Leeds, UK; ⁴Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK; ⁵NHS 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

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

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

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

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

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

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

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

¹Columbia University, USA; ²Centro 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

¹San Raffaele Scientific Institute; ²Vita-Salute San Raffaele, Italy; ³Fondazione IRCCS Istituto Neurologico Carlo Besta; ⁴Institute 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

¹IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; ²Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; ³IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell'Età Pediatrica, Bologna, Italy; ⁴Child Neuropsychiatry Unit, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy; ⁵Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy; ⁶Medical 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

¹IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; ²Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; ³Department of Radiological, Oncological and Pathological Sciences, Sapienza, University of Rome, Rome, Italy; ⁴Department 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

¹University of Hertfordshire, Department of Clinical, Pharmaceutical and Biological Science, Hatfield, United Kingdom; ²Discovery Research MRL UK, MSD, LBIC, London, United Kingdom; ³William Harvey Research Institute, Queen Mary University of London, London, United Kingdom; ⁴Proteomics Facility, Centre of Excellence for Mass Spectrometry, King’s College London, London, United Kingdom; ⁵University 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

¹Department of Translational Biomedicine and Neuroscience (DiBraiN), University of Bari Aldo Moro, Bari, Italy; ²Molecular 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

¹Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, NY, USA; ²Department 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

¹University of Verona, Italy; ²Department of General Pediatrics, Neonatology and Pediatric Cardiology, Duesseldorf University Hospital, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany; ³Charité-Universitätsmedizin Berlin, Department of Neuropediatrics, Berlin, Germany; ⁴Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico "C.Besta", Milan, Italy; ⁵Mitochondrial Medicine Laboratory, Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy; ⁶Max 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

¹Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia; ²Division 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

¹Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy, 40138; ²U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy, 40138; ³Center for Applied Biomedical Research (CRBA), University of Bologna, Bologna, Italy, 40138; ⁴Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy, 40126; ⁵Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany, 45122; ⁶Department of Veterinary Sciences, University of Bologna, Bologna, Italy, 40064; ⁷Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany, 72076; ⁸Center for Rare Diseases, University of Tübingen, Tübingen, Germany, 72076; ⁹Department 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

¹Institut NeuroMyoGene, PGNM UMR5261, INSERM U1315, Université Claude Bernard Lyon I Faculté de médecine Rockefeller, Lyon 08 France; ²UT 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

¹Center for Mitochondrial and Epigenomic Medicine, The Children’s Hospital of Philadelphia; ²Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia; ³Department of Radiology, The Children’s Hospital of Philadelphia; ⁴Department 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

¹Institute for Neurosciences of Montpellier (INM) U1298, France; ²Molecular 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

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

¹IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, via Altura 3, 40139, Bologna, Italy; ²Department 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

¹Institute for Biochemistry, University of Cologne, Cologne, Germany; ²Cologne 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

¹Departamento de Fisiología, Facultad de Medicina, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.; ²Instituto de Investigación Biosanitaria de Granada (Ibs.Granada), Granada, Spain.; ³Centro 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

¹Inherited 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.; ²Research Program of Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki 00290, Finland; HUSlab, Helsinki University Hospital, Helsinki 00290, Finland;; ³Laboratory 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.; ⁴Department of Clinical Biochemistry, Institut de Recerca de Sant Joan de Deu, Esplugues de Llobregat, 08036 Barcelona, Spain, and CIBERER, 28029 Madrid, Spain.; ⁵Department of Statistics, Biology Faculty, UB, Barcelona, Spain; ⁶Institute 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

¹Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK; ²Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK; ³NHS 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

¹Sheffield Institute for Translational Neuroscience (SITraN), The University of Sheffield, Sheffield, UK.; ²Verge 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

¹Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK; ²Neurogenetics Unit, Rare and Inherited Disease Genomic Laboratory, North Thames Genomic Laboratory Hub, London, UK; ³Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK; ⁴Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK; ⁵Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London, UK; ⁶NHS 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

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

¹University of Eastern Finland, Finland; ²Kuopio 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

¹Department of Biosciences Biotechnologies and Environment, University of Bari, Italy; ²Department of Pharmacy and BioTechnology, University of Bologna, Italy; ³Institute of Human Genetics, University Hospital, Leipzig, Germany; ⁴Hematology and Cell Therapy Unit, IRCCS-Istituto Tumori "Giovanni Paolo II, Bari, Italy; ⁵Children's Hospital of Philadelphia Research Institute, Philadelphia, USA; ⁶University 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

¹Wellcome Centre for Mitochondrial Research, Newcastle University, United Kingdom; ²Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, Queen Square, London, UK; ³The 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

¹Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; ²Department of Health Sciences,University of Milan, Milan, Italy; ³Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ⁴Department 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

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

¹Neurocenter, Oulu University Hospital, Oulu, Finland; ²Research Unit of Clinical Medicine, Medical Research Center, University of Oulu and Oulu University Hospital, Oulu Finland; ³Electron microscopy, Biocenter Oulu, University of Oulu, Oulu, Finland; ⁴Pathology, Turku University Hospital and University of Turku, Turku, Finland; ⁵Pathology, Oulu University Hospital, Oulu, Finland; ⁶Division 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

¹Mitochondrial Diseases Laboratory, Research Institute, Universitary Hospital 12 de Octubre (Imas12), 28041 Madrid, Spain.; ²Department of Pediatric Neurology, Hospital General Universitario de Toledo, Toledo, Spain.; ³Biochemistry 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.; ⁴iPS Cells Translational Research Group, Research Institute, Universitary Hospital 12 de Octubre (Imas12), 28041 Madrid, Spain.; ⁵Centre 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

¹Department of Bioengineering, University of Pittsburgh, Pittsburgh, Pennsylvania, USA; ²Department of Medicine, Vascular Medicine Institute, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA; ³Department of Chemistry and Center for Nucleic Acids Science and Technology, Carnegie Mellon University, Pittsburgh, Pennsylvania, USA; ⁴Department 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

¹Laboratory of Bioenergetics, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic; ²Laboratory of Genetics of Model Diseases, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic; ³Laboratory 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

¹University of Bologna, Italy; ²University of Pavia, Pavia, Italy; ³Laboratory of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, Rome, Italy; ⁴IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy; ⁵University of Tuebingen, Tuebingen, Germany; ⁶Université LUNAM, Angers, France; ⁷Universidad de Zaragoza, Zaragoza, Spain; ⁸National Neurological Institute 'C. Besta', Milano, Italy; ⁹Ludwig-Maximilians-Universität München, Munich, Germany; ¹⁰UCLA, Los Angeles, California, USA; ¹¹University of Siena, Siena, Italy; ¹²University of Newcastle, Newcastle upon Tyne, UK; ¹³University of Cambridge, Cambridge, UK; ¹⁴Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, UK; ¹⁵Erasmus Medical Centre, Rotterdam, The Netherlands; ¹⁶PhD, 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

¹IRCCS Istituto delle Scienze Neurologiche, Italy; ²Department 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

¹Department of Medical Laboratory Sciences, Masinde Muliro University of Science and Technology - Kakamega, Kenya; ²Institute of Vegetative Physiology, University of Cologne - Cologne, Germany; ³Max Planck Institute for Heart and Lung Research - Bad Nauheim, Germany; ⁴Institute for Cardiovascular Physiology, University Medical Center - Göttingen, Germany; ⁵Institute of Physiology I, Medical Faculty, University of Bonn - Bonn, Germany; ⁶Center for Molecular Medicine Cologne - Cologne, Germany; ⁷Cologne Excellence Cluster on Cellular Stress Responses in Aging-associated Diseases (CECAD) - Cologne, Germany; ⁸University 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

¹Newcastle University, United Kingdom; ²Welcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; ³NHS 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

¹University Eye Clinic Maastricht, Maastricht University Medical Center+, Maastricht, The Netherlands; ²Department of Toxicogenomics, Maastricht University, Maastricht, The Netherlands; ³School for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands; ⁴Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands; ⁵Department 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

¹Otorhinolaryngology, Head and Neck Surgery, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, Sweden; ²Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, USA; ³Logopedics, Phoniatrics and Audiology, Department of Clinical Sciences Lund, Lund University, Sweden; ⁴Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, USA; ⁵Division of Biostatistics, Department of Pediatrics, Children's Hospital of Philadelphia, USA; ⁶Mitochondrial 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

¹University of Zagreb - Faculty of Agriculture, 10000 Zagreb, Croatia; ²University of Ljubljana - Veterinary Faculty, 1000 Ljubljana, Slovenia; ³University of Ljubljana - Biotechnical Faculty, 1000 Ljubljana, Slovenia; ⁴Croatian Veterinary Institute, 10000 Zagreb, Croatia; ⁵Agricultural 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

¹Medical University of Innsbruck, Austria; ²University 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

¹Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA; ²Perelman 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

¹University of Toronto, Canada; ²University 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

¹Department of Pediatrics and Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic; ²Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic; ³Department 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

¹Department of Women’s and Reproductive Health, University of Oxford, Oxford, UK.; ²Inherited Movement Disorders Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, USA.; ³Signalling 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

¹University of Oslo, Norway; ²Oslo 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

¹Institut de Neurociències, Universitat Autònoma de Barcelona. Bellaterra (Barcelona) 08193. Spain; ²Department 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

¹Autonomous University of Barcelona, Bellaterra, Spain; ²Scripps 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

¹Université Côte d’Azur, Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Nice (France); ²Mitochondrial Biology Group, Institut Pasteur, CNRS UMR 3691, Paris (France); ³Université Côte d’Azur, Centre Commun de Microscopie Appliquée, Nice (France); ⁴Mécanismes 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

¹Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic; ²Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic; ³Department 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

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

¹Departament de Biomedicina, Facultat de Medicina. Universitat de Barcelona, Spain; ²Institut de Neurociències. Universitat de Barcelona, Spain; ³Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; ⁴Centro 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

¹Université Paris Cité, NeuroDiderot, Inserm, F-75019 Paris, France; ²Neonatal Research Group, Instituto de Investigación Sanitaria La Fe (IISLAFE), Valencia, Spain; ³Department of Physiology, University of Valencia, Vicent Andrés Estellés s/n, 46100 12 Burjassot, Spain; ⁴Laboratory of Comparative Neurobiology, Cavanilles Institute of Biodiversity and Evolutionary Biology, University of Valencia, Valencia, Spain; ⁵Université de Paris, UMR-S 1144 Inserm, 75006 Paris, France; ⁶Université 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

¹Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS UMR7104, Université de Strasbourg, France; ²Institut NeuroMyoGene, UMR5310, INSERM U1217, Université Claude Bernard Lyon I Faculté de médecine, Lyon, France; ³Institut 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

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

¹Center for Physiology and Pathophysiology, Faculty of Medicine and University Hospital Cologne, Germany; ²Medical Research Council Mitochondrial Biology Unit, University of Cambridge, UK; ³Medical Research Council Mitochondrial Biology Unit and Department of Clinical Neurosciences, Cambridge Biomedical Campus, University of Cambridge, UK; ⁴Department of Neurology, Faculty of Medicine and University Hospital Cologne, Germany; ⁵Institute of Radiochemistry and Experiment Molecular Imaging, Faculty of Medicine and University Hospital of Cologne, Germany; ⁶Department of Pediatrics and Adolescent Medicine, Experimental Neonatology, Faculty of Medicine and University Hospital Cologne, Germany; ⁷Center 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

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

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

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

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