Overview and details of the sessions of this conference. Please select a date or location to show only sessions at that day or location. Please select a single session for detailed view (with abstracts and downloads if available).
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Session Overview |
Date: Tuesday, 13/June/2023 | |
8:00am - 6:30pm | Slides Center Location: Slides Center |
8:00am - 6:30pm | Registration Desk Location: Bologna Congress Center |
9:00am - 10:45am | Session 3.1: Inflammation and Immunity as mitochondrial contributor to pathology Location: Bologna Congress Center - Sala Europa Session Chair: Jose Antonio Enriquez Session Chair: Daria Diodato Invited Speakers:
S. Pluchino; M. Mittelbrunn |
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Invited
Fuels and drivers of smouldering brain disease University of Cambridge, United Kingdom Invited
Immunometabolisms at the crossroad between inflammation and aging CSIC- Consejo Superior de Investigaciones Cientificas, Spain Oral presentation
Dissecting the role of type I interferon signaling in microglial response in a mouse model of mitochondrial disease 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 Oral presentation
The contribution of cell free-mitochondrial DNA in the pathogenesis of MELAS syndrome 1IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Italy; 2Department of Biomedical and NeuroMotor Sciences, University of Bologna, Italy Oral presentation
A novel role for the mitochondrial topoisomerase TOP1MT in mediating mtDNA release and cGAS-STING activation 1University of Calgary, Canada; 2National Institutes of Health; 3Texas A&M University; 4University of British Columbia Flash Talk
Impaired inflammatory response to lipopolysaccharide in fibroblasts from patients with long-chain fatty acid oxidation disorders 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 Flash Talk
Fumarate induces mtDNA release via mitochondrial-derived vesicles and drives innate immunity 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 Flash Talk
Free cytosolic-mitochondrial DNA triggers a potent type-I Interferon response in Kearns–Sayre patients counteracted by mofetil mycophenolate 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 |
10:45am - 11:00am | Coffee Break Location: Bologna Congress Center |
11:00am - 12:40pm | Session 3.2: Mitochondrial mechanisms in neurodegeneration and neurodevelopment Location: Bologna Congress Center - Sala Europa Session Chair: Vincent Procaccio Session Chair: Elena Rugarli Invited Speaker: V. Paquis-Flucklinger; L. Burbulla |
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Invited
Destructuring of mitochondrial cristae in the initiation of CHCHD10-related neurodegeneration 1IRCAN, UMR 7284/INSERM U1081/UCA, Nice, France; 2Reference Center for mitochondrial diseases, Universitary hospital, Nice, France Invited
Convergence of mitochondrial and lysosomal dysfunction in Parkinson’s disease Ludwig Maximilian University (LMU) Munich, Germany Oral presentation
Development of cortical organoids to model m.3243A>G disease and understand cell specificity University of Cambridge, United Kingdom Oral presentation
Brain and brainstem-specific mitochondrial diversity associated with vulnerability to neurodegeneration in mitochondrial diseases 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 Oral presentation
Mitochondrial DNA mutations exacerbate motor and behavioural deficits in a mouse model of Parkinson’s disease 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 Flash Talk
Macromolecular crowding: A novel player in mitochondrial physiology and disease 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 Flash Talk
Preserved motor function and striatal innervation despite severe degeneration of dopamine neurons upon mitochondrial dysfunction 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 Flash Talk
The mitochondrial DNA depletion syndrome protein FBXL4 mediates the degradation of the mitophagy receptors BNIP3 and NIX to suppress mitophagy 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 |
12:40pm - 12:45pm | Conference Picture Location: Bologna Congress Center - Sala Europa |
12:45pm - 1:15pm | Industry Workshop: Oroboros Location: Bologna Congress Center - Sala Europa |
12:45pm - 1:45pm | Lunch Location: Bologna Congress Center - Sala Europa |
1:45pm - 3:30pm | Session 3.3: Metabolic stress responses in mitochondrial diseases and cancer Location: Bologna Congress Center - Sala Europa Session Chair: Luca Scorrano Session Chair: Luisa Iommarini Invited Speaker: A. Trifunovic; L. Greaves |
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Invited
Transcriptional regulation of mitochondrial stress responses University of Cologne, Germany Invited
Mitochondrial DNA mutations in ageing and cancer - what's the connection? 1Wellcome Centre for Mitochondrial Research, Newcastle University, United Kingdom; 2MRC Mitochondrial Biology Unit, Cambridge, United Kingdom; 3CRUK Beatson Institute, Glasgow, United Kingdom Oral presentation
Mitochondrial complex III deficiency drives c-MYC overexpression and illicit cell cycle entry leading to senescence and segmental progeria 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 Oral presentation
A genetic deficiency screen in vivo reveals rescue mechanisms of mitochondrial dysfunction 1Karolinska Institutet, Sweden; 2Max-Planck Institute of Biochemistry, Germany; 3University of Cambridge, Cambridge Biomedical Campus, UK Oral presentation
Heterochromatin Protein 1 controls gene expression and longevity in response to mitochondrial dysfunction 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. Flash Talk
High fat diet ameliorates the mitochondrial cardiomyopathy of CHCHD10 mutant mice Weill Cornell Medicine, United States of America Flash Talk
Functional characterisation of the human mitochondrial disaggregase, CLPB 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 Flash Talk
The mitochondrial inhibitor IF1 has a dual role in cancer 1Department of Biomedical and Neuromotor Sciences, University of Bologna; 2Department of Chemical Science, University of Padova; 3Department of Biology, University of Padova, Padova |
3:30pm - 3:50pm | Industry Workshop: UCB Farchim SA Location: Bologna Congress Center - Sala Europa |
3:30pm - 4:30pm | Tea Break and poster session Location: Bologna Congress Center Session topics: - Clinical 2: natural history, biomarkers and outcome measures - Inflammation and Immunity as mitochondrial contributor to pathology - Metabolic stress responses in mitochondrial diseases, ageing and cancer |
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Evaluating functional mobility and endurance in adults with Primary Mitochondrial Myopathy (PMM); insights concerning gait protocol and outcome measure selection. 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 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 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 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 Fondazione IRCCS Besta, Milan Italy Carrier frequency of pathogenic and likely pathogenic variants in POLG in Eastern Norway 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 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. 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 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 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 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 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 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 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 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 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 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 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? 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. 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 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) 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 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. 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. 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 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 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? 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 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 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 Universitat Autònoma de Barcelona, Spain Parkinson’s disease genes converge at the mitochondria-lysosome interface to promote inflammatory cell death McGill University, Canada [18F]ROStrace PET as a biomarker of mitochondria-induced neuroinflammation in the prodromal phase of Parkinson’s disease mouse models 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 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 Max Planck Institute for Biology of Ageing, Germany Inflammatory cardiomyopathy and heart failure caused by impaired inner membrane integrity 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 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 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 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. 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 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 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 Tampere University, Finland Mitochondrial thermo-profiles of diverse cell lines show reduction of thermo-stability at pathophysiological conditions 1Tampere University, Finland; 2University of Copenhagen; 3Osaka University Mitochondrial thermogenesis and thermal adaptation in fibroblasts 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 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 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 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 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 Bogazici University, Turkey The multifaceted role of GDF15 in mitochondrial muscle disease and its synergistic action with FGF21 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. 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 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 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 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 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 IMol Polish Academy of Sciences, Warsaw, Poland Diagnostic examination of kinase inhibitors by bioenergetic profiling of cancer cell models reveals off-target drug effects 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 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 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 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 Hadassah Medical Center and Hebrew University of Jerusalem, Israel Analysis of mitochondrial function using novel detection reagents 1DOJINDO LABORATORIES; 2Gunma University Mitochondrial dynamics in cancer cells: relationship between the F1Fo-ATPase inhibitor IF1 and the mitochondrial the fusion-fission machinery 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 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. 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 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. 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 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 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 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 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 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 University of Bari "Aldo Moro", Italy Mitochondrial respiratory function in peripheral blood cells across the human life span 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 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 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 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. 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 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) 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 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 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 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 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 Weill Cornell Medicine, United States of America The mitochondrial inhibitor IF1 has a dual role in cancer 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 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 1University of Tartu, Estonia; 2University Paris-Saclay, INSERM UMR-S, France |
4:30pm - 6:00pm | Session 3.4: Clinical 2: natural history, biomarkers and outcome measures Location: Bologna Congress Center - Sala Europa Session Chair: Costanza Lamperti Session Chair: Alessandra Maresca |
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Invited
Optimising interventional trials: how natural history studies and digital technologies can drive innovation 1Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom; 2University of Pisa, Italy Invited
Identifying circulating biomarkers to monitor mitochondrial disease severity Massachusetts General Hospital, United States of America Oral presentation
National mitochondrial disease registry in England: linking genetics with routinely collected healthcare data 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 Oral presentation
Status epilepticus in POLG disease 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 Flash Talk
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. 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 Flash Talk
Indirect comparison of lenadogene nolparvovec gene therapy versus natural history in m.11778G>A MT-ND4 Leber hereditary optic neuropathy patients 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 Flash Talk
The mitochondrial stress, brain imaging, and epigenetics study (MiSBIE) 1Columbia University Irving Medical Center, United States of America; 2Université de Montréal, Canada; 3Université de Bordeaux, France; 4Dartmouth College, Uniter States of America |
6:00pm - 7:00pm | Poster session Location: Bologna Congress Center Session topics: - Mitochondrial mechanisms in neurodegeneration and neurodevelopment - The impact of mtDNA variation and environment on rare and common diseases |
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SARM1 deletion delays cerebellar but not spinal cord degeneration in an enhanced mouse model of SPG7 deficiency 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 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 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 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 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. 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? 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 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 Indiana University, United States of America Nucleus-associated mitochondria (NAM) control neuronal Ca2+ signalling and gene expression 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 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 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 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 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 IRCCS Istituto Neurologico C. Besta, Italy Neural stem cell niche-interactions in mitochondrial disease University of Cambridge, United Kingdom Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q 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 Neuroscience Institute-Autonomous University of Barcelona, Spain Investigating FA physiopathology in human iPSC-derived DRG organoïds 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 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 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 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 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 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 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 Inserm U1235, France Identification of dysregulated molecular pathways in Frataxin deficient Proprioceptive Neurons INMG-PGNM, France Mitochondrial dysfunction in dorsal root ganglia in Friedreich ataxia mouse and cell models: role of SirT3 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 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 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 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 Tel-Aviv University, Israel Analyzing the mitochondrial HPDL protein in fish and human models IRCCS Fondazione Stella Maris, Italy Modulation of mitophagy, mitochondrial and autophagy phenotypes in LRRK2 Parkinson’s patient fibroblast-derived dopaminergic neurons by small molecules 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 Institute of Neuroscience, National Chengchi University, Taiwan Mitochondrial dysfunction is involved in progranulin-related frontotemporal dementia 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 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 IST Austria, Austria Effect of UPO04 depending on GAA triplet hyperexpansion in Friedreich’s ataxia disease. Universidad Pablo de Olavide, Spain New cell model for studying mitochondrial dysfunction in Fragile X-associated tremor/ataxia syndrome 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 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 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 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 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 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 Centre of New Technologies, University of Warsaw, Poland Unveiling the metabolic signature of synaptic mitochondria Instituto de Medicina Molecular João Lobo Antunes, Portugal Aberration of mitochondrial ultrastructure in the skeletal muscle in patients with Parkinson’s disease 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 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 Karolinska Institute, Sweden Gamma Peptide Nucleic Acids as a Mechanism for Targeting the Mitochondrial Genome 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 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 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 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 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 University of Toronto, Canada Mitochondrial morphology and function in mitochondrial disease 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 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 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 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? 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 1Medical University of Innsbruck, Austria; 2University of Regensburg, Germany Multiple mitochondrial DNA deletions in patients with myopathy 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 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 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 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 1University of Oslo, Norway; 2Oslo University Hospital Elucidating the role of ATF3 in the neuropathology of a mouse model of Leigh Syndrome 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 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 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 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 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 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? 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 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 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 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 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 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 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 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 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 |