Conference Agenda

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