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: Saturday, 10/June/2023 | |
9:00am - 6:00pm | Young Investigators Meeting Registration and Information Desk Location: Bologna Congress Center |
10:00am - 6:00pm | Young Investigators Meeting Location: Bologna Congress Center - Sala Italia To see the full programme of this Meeting, visit our website on this page. |
Date: Sunday, 11/June/2023 | |
10:00am - 6:00pm | Slides Center Location: Slides Center |
10:00am - 6:00pm | Registration Desk Location: Bologna Congress Center |
11:00am - 1:00pm | E-MIT Assembly Location: Bologna Congress Center - Sala Europa |
1:00pm - 2:00pm | Lunch Location: Bologna Congress Center - Sala Europa |
2:30pm - 3:00pm | Opening Ceremony Location: Bologna Congress Center - Sala Europa |
3:00pm - 3:45pm | Keynote Lecture: Doug Turnbull Location: Bologna Congress Center - Sala Europa |
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Invited
Mitochondrial disease: past successes and future challenges Newcastle University, United Kingdom |
3:45pm - 4:00pm | Coffee Break Location: Bologna Congress Center |
4:00pm - 5:30pm | Session 1.1: The impact of mtDNA variation and environment on rare and common diseases Location: Bologna Congress Center - Sala Europa Session Chair: Ian Holt Session Chair: Emanuela Bottani Invited Speakers: P. Chinnery; A. Enriquez |
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Invited
The role of mtDNA variation in common and rare diseases Cambridge-UK, United Kingdom Invited
How mtDNA can talk with the complex landscape of nuclear encoded OXPHOS information? Spanish National Center for Cardiovascular Research (CNIC) Oral presentation
Understanding the pathophysiological mechanisms of mitochondrial diseases with MITOMICS through an integrated multi-OMICS approach of Mitomatcher, the French mitochondrial disease database 1Université Côte d’Azur, INSERM U1081, CNRS UMR7284, IRCAN, CHU de Nice, Nice, France; 2Département de Génétique, UMR CNRS 6015 INSERM 1083, CHU et Université d’Angers, Angers, France; 3Réseau français des laboratoires de diagnostic pour les maladies mitochondriales (Bordeaux, Caen, Grenoble, Lille, Lyon, Le Kremlin-Bicêtre, Pitié Salpêtrière, Necker Enfants Malades, Reims), Centres de référence pour les maladies mitochondriales (CALISSON, CARAMMEL), France; 4Université de Nantes, Nantes, France; 5Université Côte d’Azur, MDLab, Nice, France; 6Filière FILNEMUS, CHU La Timone, Marseille, France; 7INRIA, Equipe EPIONE, Nice, France; 8University of Leicester, Dept.Genetics, UK Oral presentation
Generating a complete human panmitogenome 1The Rockefeller University, United States of America; 2Department of Biology and Biotechnology “L. Spallanzani”, University of Pavia, 27100 Pavia, Italy; 3Medical University of Innsbruck, 6020 Innsbruck, Austria; 4Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN 38163, USA; 5Medical University of Innsbruck, 6020 Innsbruck, Austria; 6Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, 40139 Bologna, Italy; 7IRCCS Institute of Neurological Sciences of Bologna; 8Forensic Science Program, The Pennsylvania State University, University Park, PA, USA Oral presentation
Negative selection of mitochondrial DNA mutations in the blood 1Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle-upon-Tyne; 2The Human Dendritic Cell Lab, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne; 3NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne; 4Equal Contributions; 5Equal Contributions Flash Talk
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 Flash Talk
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 |
5:30pm - 6:15pm | Show Location: Bologna Congress Center - Sala Europa |
6:15pm - 7:00pm | Transfer to Cocktail Venue Location: Bologna Congress Center - Sala Europa |
7:00pm - 10:00pm | Welcome cocktail Location: Palazzo Isolani |
Date: Monday, 12/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 2.1: mtDNA maintenance and expression Location: Bologna Congress Center - Sala Europa Session Chair: Zofia Chrzanowska-Lightowers Session Chair: Massimo Zeviani Invited Speakers:
M. Falkemberg; A. Filipovska |
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Invited
Initiation of mitochondrial DNA replication in mammalian cells. Gothenburg University, Sweden Invited
Regulation of mitochondrial gene expression in disease University of Western Australia, Australia Oral presentation
Mitochondrial translation termination at non-canonical stop codons 1Karolinska Institutet, Stockholm, Sweden; 2University of Pennsylvania, Pennsylvania, USA; 3Max-Planck-Institute for Biology of Ageing, Cologne, Germany Oral presentation
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability 1Department of Medical Biochemistry and Cell Biology, University of Gothenburg, P.O. Box 440, SE-405 30 Gothenburg, Sweden; 2Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; 3Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; 4Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; 5The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; 6North East and Yorkshire Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, UK; 7Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK; 8Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; 9NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK; 10Nuffield Department of Women’s & Reproductive Health, The Women's Centre, University of Oxford, Oxford, UK; 11Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK; 12Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil; 13Department of Internal Medicine, Universidade Federal do Rio Grande do Sul - Porto Alegre, Brazil; 14Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul - Porto Alegre, Brazil; 15Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC 27101, USA; 16Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA; 17The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel; 18The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Israel; 19The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; 20Genomics Unit, The Center for Cancer Research, Sheba Medical Center, Israel; 21Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel; 22Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden Oral presentation
The role of replicative exonucleases in mitochondrial DNA replication and degradation University of Miami Miller School of Medicine, United States of America Flash Talk
Processing of mitochondrial RNA in health and disease: the role of FASTKD5. 1The Neuro & McGill University, Montreal, Quebec, Canada; 2Dell School of Medicine, University of Texas at Austin, Austin, TX, USA Flash Talk
Mechanisms of mtDNA maintenance and segregation in the female germline 1Karolinska Institutet, Stockholm, Sweden; 2MRC Mitochondrial Biology Unit, Cambridge, United Kingdom; 3Department of Clinical Neurosciences, University of Cambridge, United Kingdom Flash Talk
The human Mitochondrial mRNA Structurome reveals Mechanisms of Gene Expression in Physiology and Pathology 1University of Miami, United States of America; 2Harvard Medical School, United States of America |
10:45am - 11:00am | Coffee Break Location: Bologna Congress Center |
11:00am - 12:45pm | Session 2.2: Clinical 1: from new genes to old and novel phenotypes Location: Bologna Congress Center - Sala Europa Session Chair: Agnes Rotig Session Chair: Daniele Ghezzi Invited Speakers: R. Horvath; H. Prokisch |
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Invited
The role of mitochondria in neuromuscular diseases Cambridge-UK, United Kingdom Invited
Innovative approaches for the molecular diagnosis of mitochondrial disorders Technical University Munich Institute of Human Genetics Oral presentation
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing 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; 3Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK; 4Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; 5Department of Neurosciences, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; 6Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; 7National Institute for Health and Care Research Great Ormond Street Hospital Biomedical Research Centre, London, UK; 8Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK; 9Genomics England, One Canada Square London, UK Oral presentation
Biallelic variants in MCAT in an infant with lactic acidosis, lipoylation disorder, and early death 1University Children's Hospital, Paracelsus Medical University, Salzburg, Austria; 2Institute of Human Genetics, University Medical Center Eppendorf, Hamburg, Germany; 3Current address: Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany; 4Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany; 5Amalia Children’s Hospital, Radboudumc, Nijmegen, The Netherlands. Oral presentation
Biallelic PTPMT1 variants impair cardiolipin metabolism and cause mitochondrial myopathy and developmental regression 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; 3Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge UK; 4Izmir International Biomedicine and Genome Institute, Dokuz Eylül University, Izmir, Turkey; 5Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; 6Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK; 7Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK; 8Neurometabolic Unit, The National Hospital for Neurology and Neurosurgery, London, UK; 9Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle University, Newcastle upon Tyne, UK; 10Genomics England, London, UK; 11Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey; 12Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt; 13Department of Inherited Metabolic Disease, Division of Women's and Children's Services, University Hospitals Bristol NHS Foundation Trust, Bristol, UK; 14Izmir Biomedicine and Genome Center, Izmir, Turkey; 15Department of Medical Biology, Faculty of Medicine, Dokuz Eylül University, Izmir Turkey Flash Talk
Heterozygous missense variants in NUTF2 (nuclear transport factor 2) gene, mapping at the OPA8 locus, cause Dominant Optic Atrophy 1IRCCS - Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica - Bologna (Italy); 2Studio Oculistico d'Azeglio - Bologna (Italy); 3Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele - Milano (Italy); 4Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM) - Madrid (Spain); 5Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII - Madrid (Spain); 6Grupo de investigación traslacional con células iPS, Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12), Madrid, Spain; Centro de Investigación Biomédica en Red (CIBERER) - Madrid (Spain); 7Université d’Angers, MitoLab team, UMR CNRS 6015 - INSERM U1083, Unité MitoVasc - Angers (France); 8Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University - Paris (France); 9Departments of Biochemistry and Genetics, University Hospital Angers - Angers (France); 10Molecular Genetics Laboratory, Institute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany; 11Depart. of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna - Bologna (Italy) Flash Talk
Southern African paediatric patients with King Denborough syndrome are exclusively associated with an autosomal recessive STAC3 variant: is this a highly prevalent secondary mitochondrial disease in this African population? 1Human Metabolomics, North-West University, Potchefstroom, South Africa; 2Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa; 3Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; 4Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; 5https://www.ucl.ac.uk/genomic-medicine-neuromuscular-diseases/global-contributor-list Flash Talk
AK3, adenylate kinase isozyme 3, is a new gene associated with PEO and multiple mtDNA deletions 1Fondazione IRCCS Istituto Neurologico Besta, Italy; 2Vall d'Hebron Research Institute, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Autonomous University of Barcelona, Barcelona, Spain; 3Centro Sclerosi Multipla, P.O. Binaghi, ASL Cagliari, Italy; 4Technical University of Munich, School of Medicine, Institute of Human Genetics, 81675 Munich, Germany; 5Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany; 6Department of Pathophysiology and Transplantation (DEPT), University of Milan, Italy Flash Talk
Guanylate kinase 1 deficiency: a novel and potentially treatable form of mitochondrial DNA depletion/deletions syndrome 1Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA; 2Seattle Children’s Hospital, Seattle, WA, USA; 3Section of Inborn Errors of Metabolism-IBC. Department of Biochemistry and Molecular Genetics. Hospital Clinic de Barcelona-IDIBAPS, Barcelona.; 4Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona; 5Muscle Research and Mitochondrial Function Lab, Cellex - IDIBAPS. Faculty of Medicine and Health Science - University of Barcelona (UB), Barcelona.; 6Department of Internal Medicine, Hospital Clínic of Barcelona.; 7Vall d’Hebron Research Institute, Autonomous University of Barcelona, Barcelona, Spain.; 8Department of Genome Sciences, University of Washington, Seattle, WA, U.S.A. |
12:45pm - 1:45pm | Lunch Location: Bologna Congress Center - Sala Europa |
1:45pm - 3:30pm | Session 2.3: Modelling pathogenic mechanisms: OXPHOS, metabolic rewiring and tissue specificity Location: Bologna Congress Center - Sala Europa Session Chair: Cristina Ugalde Session Chair: Giovanni Manfredi Invited Speaker: E. Fernandez-Vizarra; A. Prigione |
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Invited
Metabolic adaptations of respiratory chain organization and function 1Department of Biomedical Sciences, University of Padova, Italy; 2Veneto Institute of Molecular Medicine, Padova, Italy Invited
Pluripotent stem cells and brain organoids for drug discovery of mitochondrial diseases Heinrich Heine University, Düsseldorf, Germany Oral presentation
High-throughput single cell analysis reveals progressive mitochondrial DNA mosaicism developing throughout life 1Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; 2Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; 3Biosciences Institute, Faculty of Medical Sciences, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK Oral presentation
A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy. 1Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY; 2Weill Cornell Medicine, Department of Pharmacology, New York, NY; 3Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy; Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy; 4IRCCS, Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy; Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy Oral presentation
Succinylation as a novel pathogenic mechanism in a children's mitochondrial brain disease 1STEMM, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland; 2Department of Pharmacology and Cancer Biology, Duke University School of Medicine, Durham, NC, USA; 3Buck Institute for Research on Aging, Novato, CA 94945, USA; 4Gladstone Institutes and University of California, San Francisco, CA 94158, USA; 5Department of Physics, University of Helsinki, Finland; 6HiLIFE Institute of Biotechnology, University of Helsinki, Finland; 7Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark; 8Unit of Cellular Biology and Mitochondrial Diseases, “Bambino Gesù” Children's Hospital, IRCCS, Rome, Italy; 9Program in Genetics and Genome Biology, The Hospital for Sick Children, Institute of Medical Science University of Toronto, Toronto, Ontario, Canada; 10Division of Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX, USA Flash Talk
The levels and activation state of the pyruvate dehydrogenase complex modulate the SCAFI-dependent organization of the mitochondrial respiratory chain 1Instituto de Investigación Hospital 12 de Octubre, Madrid 28041, Spain; 2Department of Biomedical Sciences, University of Padova, 35131 Padova, Italy; 3Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723, Madrid, Spain Flash Talk
Oxphos deficiency indicates novel functions for the mitochondrial protein import subunit tim50 1Department of Biochemistry and Pharmacology and the Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, 3010, Australia; 2Queensland Children’s Hospital, Department of Metabolic Medicine, South Brisbane, Brisbane, Queensland, 4001, Australia; 3Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Victoria, 3052, Australia; 4Department of Paediatrics, University of Melbourne, Melbourne, Victoria, 3052, Australia; 5Victorian Clinical Genetics Services, Royal Children’s Hospital, Melbourne, Victoria, 3052, Australia Flash Talk
Microproteins in metabolic regulation 1Duke-NUS Medical School, Singapore; 2University of Melbourne, Australia; 3University of Utah, USA; 4University of Southampton, UK |
3:30pm - 3:50pm | Industry Workshop: Abliva AB Location: Bologna Congress Center - Sala Europa |
3:30pm - 4:30pm | Tea Break and poster session Location: Bologna Congress Center Session topics: - Clinical 1: from new genes to old and novel phenotypes - New technological developments and OMICS - Modelling pathogenic mechanisms: OXPHOS, metabolic rewiring and tissue specificity |
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Recessive MECR pathogenic variants cause a LHON-like optic neuropathy 1IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy; 2Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy; 3Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele, Milan, Italy; 4Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Italy Variants in ATP5F1B are associated with dominantly inherited dystonia 1Fondazione IRCCS Istituto Neurologico Besta, Milan, Italy; 2Northwestern University, Feinberg School of Medicine, Chicago, USA; 3Helmholtz Zentrum München, Technical University of Munich, Munich, Germany; 4Università di Milano, Milan, Italy Toward clinical implementation of quantitative proteomics in the detection of mitochondrial disorders 1University of Melbourne, Parkville, Australia; 2Victoria University, Footscray, Australia; 3Murdoch Children’s Research Institute, Melbourne, Australia; 4Victorian Clinical Genetics Services, Melbourne, Australia; 5National Metabolic Service Auckland City Hospital, Auckland, New Zealand; 6Starship Children's Hospital, Auckland, New Zealand; 7University of Colorado, Aurora, United States of America; 8Centre for Population Genomics, Melbourne, Australia; 9Garvan Institute of Medical Research, Sydney, Australia A DNM2-related myopathy mimicking a primary mitochondrial disorder 1Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; 2Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; 3Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. Assessing the association of mitochondrial DNA genes with Primary Mitochondrial Disease using the ClinGen Clinical Validity Framework 1Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA; 2Illumina Laboratory Services, Illumina Inc., San Diego, CA; 3Center for Personalized Medicine, Department of Pathology & Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA; 4Keck School of Medicine, University of Southern California, Los Angeles, CA; 5Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; 6Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom Functional characterisation of the m.8424T>C MT-ATP8 variant using quantitative proteomics 1University of Melbourne, Parkville, Australia; 2Victoria University, Footscray, Australia; 3Murdoch Children’s Research Institute, Melbourne, Australia; 4Victorian Clinical Genetics Services, Melbourne, Australia; 5Australian Genomics, Melbourne, Australia COX18 variants cause isolated Complex IV deficiency associated with neonatal hypertrophic cardiomyopathy, myopathy and axonal sensory neuropathy 1Dino Ferrari Center, University of Milan, Italy; 2IRCCS Cà Granda Ospedale Maggiore Policlinico Milan, Italy; 3ASST Papa Giovanni XXIII, Bergamo, Italy Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 1Muscular and Neurodegenerative Disorders Unit, Children Hospital Bambino Gesù; 2Cellular biology and mitochondrial diseases diagnostics, Children Hospital Bambino Gesù; 3Department of Chemistry Life Sciences and Environmental Sustainability, University of Parma; 4Metabolism Division, Children Hospital Bambino Gesù, Rome; 5Molecular Medicine, IRCCS Stella Maris, Pisa Bi-allelic TEFM variants are associated with a treatable mitochondrial myopathy 1Unit of Cellular Biology and Diagnosis of Mitochondrial Disease, Bambino Gesù Children’s Hospital, IRCCS, Rome Italy.; 2Dipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; 3Dipartimento Di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy. TOMM40L as a new causative gene for autosomal recessive mitochondrial disease. 1Laboratorio de Enfermedades Mitocondriales. Instituto de Investigación Hospital 12 de Octubre (i+12), E-28041 Madrid, Spain.; 2Unidad Pediátrica de Enfermedades Raras, Enfermedades Mitocondriales y Metabólicas Hereditarias, Hospital 12 de Octubre, E-28041, Madrid, Spain.; 3Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723, E-28041 Madrid, Spain. A primary cardiological phenotype caused by an inherited mtDNA single deletion: a case report from an Italian pedigree 1Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy; 2Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; 3Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, Germany; 4Laboratory of Molecular Genetics, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy Genetic characterization of a large cohort of Spanish patients with TK2 deficiency. A founder effect of two TK2 variants partially contributes to a higher prevalence of the disorder in Spain. 1Hospital Universitario 12 de Octubre, imas12 Research Institute, Madrid, Spain; 2Spanish Network for Biomedical Research in Rare Diseases (CIBERER); 3Fundación Galega de Medicina Xenómica, Santiago de Compostela, Spain; 4Instituto de Investigación Sanitaria, Hospital Universitario FundaciónJiménez Díaz, Madrid, Spain; 5Research Group on Neuromuscular and Mitochondrial Diseases, Vall d’Hebron Research Institute, Autonomous University of Barcelona, Barcelona; 6Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia; 7Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona, Spain.; 8Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, Sevilla, Spain.; 9Center for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) HSD17B10 interacts with CBR4 to form human mitochondrial 3-ketoacyl-acyl carrier protein reductase 2 (KAR2) in the mitochondrial fatty acid synthesis pathway Faculty of Biochemistry and Molecular Medicine, University of Oulu, Finland Novel atypical variants causing pyruvate dehydrogenase complex deficiency 1Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden; 2Centre of inherited metabolic diseases, Karolinska University Hospital, Stockholm, Sweden; 3Neuropediatric Unit, Dept of Women’s, and Children's Health, Karolinska Institutet, Stockholm, Sweden; 4Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Novel genetic discoveries detected using diagnostic OMICSs in patients suspected to suffer from multiple acyl-CoA dehydrogenation deficiency 1Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands; 2Institute of Neurogenomics, Helmholtz Zentrum München, Germany; 3Institute of Human Genetics, School of Medicine, Technical University Munich, München, Germany.; 4Department of Pediatrics, Graduate School of Medicine, Gifu University Hospital, Gifu, Japan.; 5Department of Informatics, Technical University of Munich, Garching, Germany.; 6Department of Biochemical Genetics, St James's University Hospital, Leeds, UK.; 7Department of Pediatrics, Sheffield Children's Hospital, Sheffield, UK.; 8Department of Pediatrics, Shaare Zedek Medical Center, Jerusalem, Israel.; 9Department of Inborn Errors of Metabolism and Paediatrics, The Institute of Mother and Child, Warsaw, Poland.; 10Department of Pediatrics, Hannover Medical School, Hannover, Germany.; 11Research Unit for Molecular Medicine, Aarhus University and Aarhus University Hospital, Aarhus, Denmark.; 12Center for Inherited Metabolic Disorders, Guy’s & St Thomas’ Hospital NHS Foundation Trust, London, UK.; 13University Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany.; 14Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; 15Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA; 16Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.; 17UofL Physicians Novak Center for Children's Health, Louisville, USA.; 18Nottingham Children’s Hospital, Nottingham University Hospitals NHS Trust, Queen's Medical Centre, Nottingham, UK; 19Sheffield Teaching Hospitals NHS Trust, University of Sheffield, Sheffield, UK; 20Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; 21Clinical Genetics Center, Gifu University Hospital, Gifu, Japan.; 22Department of Clinical Chemistry, Sheffield Children’s Hospital, Sheffield, UK. The Australian genomics mitochondrial flagship: a national program delivering mitochondrial diagnoses 1Murdoch Children's Research Institute, Melbourne, Australia; 2University of Melbourne, Melbourne, Australia; 3Victorian Clinical Genetics Services, Melbourne,; 4Sydney Children’s Hospitals Network, Westmead, Australia; 5Macquarie University, Sydney, Australia; 6Women’s and Children’s Hospital, Adelaide, Australia; 7Tasmanian Clinical Genetics Service, Hobart, Australia; 8Queensland Children’s Hospital, Brisbane, Australia; 9Wesley Hospital, Brisbane, Australia; 10Garvan Institute, Sydney, Australia; 11Royal Melbourne Hospital, Melbourne, Australia; 12Royal Adelaide Hospital, Adelaide, Australia; 13John Hunter Hospital, Newcastle, Australia; 14Harry Perkins Institute of Medical Research, Perth, Australia; 15Perth Children’s Hospital, Perth, Australia; 16Yale School of Medicine, New Haven, CT, USA; 17Royal Perth Hospital, Perth, Australia; 18Royal Children’s Hospital, Melbourne, Australia; 19Mito Foundation, Sydney, Australia; 20Mater Hospital, Brisbane, Australia; 21Genetic Health Queensland, Brisbane, Australia; 22Monash University, Melbourne, Australia; 23Westmead Hospital, Westmead, Australia; 24Royal Hobart Hospital, Hobart, Australia A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNAPro 1Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy; 2Department of Medicine, Surgery, and Health Sciences, University of Trieste, Trieste, Italy; 3Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies. 1Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta; 2Department of Pathophysiology and Transplantation (DEPT), University of Milan Biallelic pathogenic variants of PARS2 cause Developmental and Epileptic Encephalopathy with Spike-and-Wave Activation in Sleep 1IRCCS, Istituto delle Scienze Neurologiche di Bologna, Italy; 2Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy; 3Department of Biomedicine, Neuroscience and Advanced Diagnostics, University of Palermo, Italy. Novel KARS1 mutation causes early-onset lethal cardiomyopathy 1IRCCS Istituto Giannina Gaslini, Genoa; 2IRCCS Fondazione Stella Maris, Calambrone (PI); 3IRCCS Ospedale Bambin Gesù, Rome The ER-MITO (Emilia Romagna-Mitochondrial) project: prevalence and genetics of Chronic Progressive External Ophthalmoplegia (CPEO) in an Italian region 1IRCCS Institute of Neurological Sciences of Bologna, Italy; 2Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy UCHL1 missense and loss-of-function variants as an emerging cause of autosomal dominant optic atrophy (ADOA) 1IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy; 2Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Italy; 3Ospedale Oftalmico Roma, Rome, Italy; 4Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele, Milan, Italy Mitochondrial dysfunction in patients with early-onset UFM1-linked encephalopathy 1National Centre for Mitochondrial Diseases, Nice Teaching Hospital (CHU de Nice), Department of Medical Genetics, Nice, France; 2Université Côte d'Azur, CHU, Inserm, CNRS, IRCAN, France; 3APHM, La Timone Hospital, Department of Neuropediatrics, Marseille, France A novel dominant variant in the ISCU gene is associated with mitochondrial myopathy 1Maria Sklodowska-Curie, Medical Academy in Warsaw, Poland; 2MedGen Medical Center, Warsaw, Poland; 3Institute of Psychiatry and Neurology, Warsaw, Poland Expanding the spectrum of clinical presentations associated with COA8 pathogenic 1IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy; 2Dino Ferrari Center, University of Milan, Milan, Italy A novel mitochondrial DNA variant, m.14430A>C, in MT-ND6 as the likely cause of Leigh syndrome with mitochondrial complex I deficiency. 1University of Cape Town, Cape Town, South Africa; 2National Health Laboratory Sevices, South Africa; 3Red Cross War Memorial Children's Hospital, Cape Town, South Africa; 4Constantiaberg Mediclinic, Cape Town, South Africa; 5Grootte Schuur Hospital, Cape Town, South Africa; 6Neuroscience Institute, University of Cape Town, Cape Town, South Africa; 7Human Metabolomics, North-West University, Potchefstroom, South Africa Leigh syndrome and Fanconi renotubular syndrome are the main clinical phenotype due to mutations in NDUFAF6 gene. 1Bambino Gesù Children Hospital, Italy; 2UCL Queen Square Institute of Neurology; 3Université Paris Descartes, Sorbonne Paris Cité Mitochondrial encephalomyopathy associated with the m.618T>C in MT-TF 1Hospital Municipal Dr. José de Carvalho, Brazil; 2Escola Paulista de Medicina, Universidade Federal de São Paulo, Brazil TWNK in Parkinson's disease: a Movement Disorder and Mitochondrial Disease Center perspective study 1School of Medicine and Surgery and Milan Center for Neuroscience, University of Milan-Bicocca.; 2Foundation IRCCS San Gerardo dei Tintori, Monza; 3Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy; 4Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy; 5IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy; 6Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; 7Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy; 8Neurology Unit, Rovereto Hospital, Azienda Provinciale per i Servizi Sanitari (APSS) di Trento, Trento, Italy; 9Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Audiology Unit, Milan, Italy; 10University of Milan, Milan, Italy; 11Department of Neurology, Istituto di Ricovero e Cura a Carattere Scientifico Humanitas, Research Hospital, Milan, Italy; 12Department of Medical Biochemistry and Cell Biology, University of Gothenburg, P.O. Box 440, SE 405 30 Gothenburg, Sweden; 13Department of Molecular Medicine, University of Pavia, Pavia, Italy. Novel pathogenic MT-ND3 variant causing a particular MELAS phenotype 1CHU de Nice, France; 2Université Côte d'Azur, CNRS, INSERM, IRCAN; 3Service de Neurologie- Hôpital Pasteur 2, CHU de Nice; 4Centre de référence des Maladies neuromusculaires Mitochondrial molecular genetic findings in the South African diagnostic setting 1University of Cape Town, Cape Town, South Africa; 2National Health Laboratory Sevices, South Africa; 3Red Cross War Memorial Children's Hospital, Cape Town, South Africa Known genes, new genes and new phenotypes in inherited mitochondrial eye diseases 1Moorfields Eye Hospital NHS Foundation Trust, London, UK; 2Institute of Ophthalmology, University College London, London, UK; 3The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK; 4North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; 5John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; 6Cambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals, Cambridge, UK LHON spectrum disorder: new phenotypes and genotypes 1San Raffaele Hospital, Italy; 2IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica (Bologna, Italy); 3Studio Oculistico d’Azeglio (Bologna, Italy); 4Department of Clinical Science and Community Health, University of Milan, (Milan, Italy); 5Unit of Neurology, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna (Bologna, Italy) Chronic asymmetric progressive external ophthalmoplegia without eyelid weakness Seoul National University Hospital, Korea, Republic of (South Korea) Bayesian inference enables discovery of functional effects of heteroplasmic mitochondrial mutations in the developing brain Imperial College London, United Kingdom Cell lineage-specific mitochondrial gene expression is established in the early embryo, prior to organ maturation 1Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; 2Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; 3Novo Nordisk Research Centre Oxford, Innovation Building, University of Oxford, Old Road Campus, Oxford, UK; 4Functional Genomics Centre, Milner Therapeutics Institute, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK; 5Max Planck Institute for Biology of Ageing, Cologne, Germany; 6Biosciences Institute, Faculty of Medical Sciences, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK Identifying mitochondrial methyltransferases using unbiased proteome-ligand profiling 1Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden, Sweden; 2Centre of Inherited metabolic diseases, Karolinska University Hospital, Stockholm, Sweden Engineering mitochondrial aminoacyl-tRNA synthetases as a tool to investigate mitochondrial protein synthesis Newcastle University, United Kingdom Short-read NGS for the screening of structural and copy number alterations in mtDNA as powerful diagnostic tool. 1Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, (Munich, Germany); 2Institute of Neurogenomics, Helmholtz Zentrum München (Neuherberg, Germany); 3Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy); 4Department of Neurology, Friedrich-Baur-Institute, LMU Hospital, Ludwig Maximilians University (Munich, Germany); 5Department of Pathophysiology and Transplantation, University of Milan (Milan, Italy) Ethical dilemmas and diagnostic uplifts; primary mitochondrial disease the era of first line whole genome sequencing 1UCL Queen Square Institute of Neurology, United Kingdom; 2NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; 3Centre for Personalised Medicine, and Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK; 4Clinical Ethics, Law and Society, Faculty of Medicine, University of Southampton, Southampton, UK Analysis of mitochondrial metabolism using 13C-labeled mass isotopologue analysis and mass spectrometry as a new approach for the diagnostics of mitochondrial disorders 1Department of Genetics, Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands.; 2Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboudumc, Nijmegen, The Netherlands Subcellular metabolomics: a pipeline for compartment-specific metabolic investigations in a mouse model of Leigh syndrome North-West University, South Africa High‐content screening for modulators of mitochondria‐ER contact sites and identification of their protein targets 1Department of Biology, University of Padova, Italy; 2Department of Biomedical Sciences, University of Padova, Italy A novel Approach to assess the pathogenicity of mtDNA Variants RadboudUMC, Translational Metabolic Laboratory, Dept of Pediatrics, Nijmegen, The Netherlands At the core of the apoptotic foci CECAD, Germany Clinical utility of ultra-rapid genomic testing for infants and children with a suspected mitochondrial disorder 1Murdoch Children's Research Institute, Melbourne, Australia; 2University of Melbourne, Melbourne, Australia; 3Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; 4University of Sydney, Sydney, Australia; 5Australian Genomics, Melbourne, Australia; 6Genetic Health Queensland, Royal Brisbane and Women’s Hospital, Brisbane, Australia; 7Sydney Children’s Hospitals Network – Westmead, Sydney, Australia; 8Sydney Children’s Hospitals Network – Randwick, Sydney, Australia; 9University of New South Wales, Sydney, Australia; 10Monash Genetics, Monash Health, Melbourne, Australia; 11Department of Paediatrics, Monash University, Melbourne, Australia; 12Paediatric and Reproductive Genetics Unit, Women’s and Children’s Hospital, North Adelaide, Australia; 13Adelaide Medical School, The University of Adelaide, Adelaide, Australia; 14Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia; 15Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, Australia; 16School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia; 17Genetic Services of Western Australia, Perth, Australia; 18Department of Clinical Genetics, The Canberra Hospital, Canberra, Australia; 19Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; 20Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, Australia; 21Neuroscience Research Australia (NeuRA) and Prince of Wales Clinical School, UNSW, Sydney, Australia Contribution of RNA-seq to diagnosis and determination of functional impact of candidate variants in 45 patients suspected of mitochondrial disease. 1Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, Barcelona, Spain; 2Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany; 3CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology and Universitat Pompeu Fabra, Barcelona, Spain Dynamics of NAD and glutathione metabolites in blood during aging, in disease and upon supplementation with NAD-booster 1University of Helsinki, Finland; 2NADMED Ltd, Finland; 3HUS Diagnostic Centre, Finland Enzymatic assay for UDP-GlcNAc and its application in the parallel assessment of substrate availability and protein O-GlcNAcylation 1Folkhalsan Research Center, Finland; 2Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Finland; 3Viikki Metabolomics Unit, University of Helsinki, Finland; 4Children’s Hospital, Helsinki University Hospital, Finland Genetic testing for mitochondrial disease: The United Kingdom best practice guidelines 1NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 2Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; 3Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; 4Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK Identification of uncharacterized genes involved in mitochondrial OXPHOS function and integrity. Centro de Biología Molecular Severo Ochoa, Spain Investigating the role of mito-nuclear genetic variation in determining m.3243A>G variant heteroplasmy 1Wellcome Centre for Mitochondrial Research and Institute for Translational and Clinical Research, Newcastle University, Newcastle upon Tyne, UK; 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 Mitochondrial DNA depletion and deletion analysis using smMIPs 1Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands; 2Radboud Center for Mitochondrial Medicine (RCMM), Radboudumc, Nijmegen, The Netherlands; 3Department of Pediatrics, Radboudumc, Nijmegen, The Netherlands Ultrastructure of mitochondria in 3D from volume electron microscopy 1Department of Computer Science, University of Copenhagen, Denmark; 2Center for Quantification of Imaging Data from MAX IV; 3Department of Clinical Medicine, Aarhus University, Denmark; 4Center of Functionally Integrative Neuroscience Visualizing ATP dynamics in living mice National Cerebral and Cardiovascular Center, Japan Applying sodium carbonate extraction mass spectrometry to investigate defects in the mitochondrial respiratory chain 1Department of Biochemistry and Pharmacology, University of Melbourne, Melbourne, Australia; 2Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, Australia; 3Department of Biochemistry and Molecular Biology, Monash University, Melbourne,Australia; 4The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; 5Baker Heart and Diabetes Institute, Melbourne, Australia; 6Institute for Health and Sport (IHES), Victoria University, Melbourne, Australia Global analysis of protein methylation in the mitochondrial compartment of cancer cells: a proteomic approach 1Department of Experimental Oncology, European Institute of Oncology (IEO), IRCCS Milano, Italy; 2European School of Molecular Medicine (SEMM); 3Department of Pharmacological and Biomolecular Sciences, University of Milan, Italy; 4Department of Oncology and Hematology-Oncology, University of Milan, Milan, Italy MITODIAG : The French network of diagnostic laboratories for mitochondrial diseases 1Service de génétique médicale, Centre de référence des maladies mitochondriales, CHU Nice, Université Cote d’Azur, CNRS, INSERM, IRCAN, Nice; 2Filnemus, laboratoire de génétique moléculaire, CHU Montpellier; 3Service de génétique, Institut de Biologie en santé, Centre National de référence Maladies Neurodégénératives et Mitochondriales, CHU Angers; 4Fédération de génétique médicale, Service de génétique moléculaire du GH Necker-enfants malades, Hôpital Necker-Enfants Malades, Paris; 5Laboratoire de Biochimie, Pôle BPP, CHU Paris Sud, Hôpital Bicêtre-le Kremlin Bicêtre, Paris; 6Pôle de biologie et pathologie, CHU Bordeaux; 7Unité fonctionnelle d’histologie moléculaire, Service de pathologie, CHU Bordeaux-GU Pellegrin, Bordeaux; 8Service de biochimie et biologie moléculaire Grand Est, UM Maladies Héréditaires du Métabolisme, Centre de biologie et pathologie Est, CHU Lyon HCL, GH Est, Lyon; 9Laboratoire de génétique, Hématologie et Immunologie, CHU Reims; 10Laboratoire de génétique moléculaire: maladies héréditaires et oncologie, Service de biochimie, biologie moléculaire et toxicologie environnementale, CHU Grenoble et des Alpes, Institut de biologie et pathologie, Grenoble; 11Service de biochimie, Pôle Biologie, Pharmacie et Hygiène, CHU Caen, Hôpital de la Côte de Nacre, Caen; 12Laboratoire de Génétique Moléculaire, CHU Montpellier, PhyMedExp, Université de Montpellier, INSERM, CNRS, Montpellier; 13Filnemus, Assistance Publique Hôpitaux Marseille, Service de Neurologie, Hôpital La Timone, Marseille Multiomic mitochondrial and metabolic screening reveals potential biomarkers in inclusion body myositis 1Hereditary Metabolic Diseases and Muscular Diseases Lab, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) and Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain; 2Department of Internal Medicine, Hospital Clinic of Barcelona, Barcelona, Spain; 3CIBERER— Spanish Biomedical Research Centre in Rare Diseases, Madrid, Spain; 4Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu; Esplugues de Llobregat, Barcelona, Spain Network analysis of protein-protein interactions identifies intermediate filaments as a novel mitochondrial dynamics related structure Maastricht Centre for Systems Biology (MaCSBio), Maastricht University, The Netherlands Establishment of mitochondrial proline metabolic disorder patient-derived induced pluripotent stem cells as a new cellular model for aging associated disease study Mackay Memorial Hospital, Taiwan Mitochondrial disorders unraveled by NGS technologies 1Research centre for medical genetics, Russian Federation; 2Morozov's Moscow City Child Clinical Hospital, Moscow, Russia Incorporation of exogenous mitochondria into cells and their effects on the cells 1LUCA Science, Japan; 2Biological Drug Development based DDS technology, Hokkaido Univ. Mitochondrial encapsulation technology for mitochondrial transplantation therapy 1Pharmaceutical Sciences Laboratory, Åbo Akademi University, Finland; 2Turku Bioscience Centre, University of Turku and Åbo Akademi University Inhibition of mtDNA transcription in liver reverses diet-induced obesity and hepatosteatosis in the mouse 1Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Sweden; 2Max-Planck Institute of Biochemistry, Martinsried, Germany; 3Metabolomics Core Facility, Max Planck Institute for Biology of Ageing, Cologne, Germany The mitochondrial phenotype of Leigh syndrome SURF1 mutant patient-derived fibroblasts and recovery using small molecules 1Sheffield Institute for Translational Neuroscience, University of Sheffield, United Kingdom; 2Nanna Therapeutics, Cambridge, United Kingdom Knockout of Complex III subunit Uqcrh decreases respiratory capacity and impairs cardiac contractile function independent of mitochondrial ROS production 1Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Center Munich, German Research Center for Environmental Health, Germany; 2Jena University Hospital, Friedrich-Schiller University of Jena, Germany; 3Oroboros Instruments, Innsbruck, Austria; 4Department of Biochemistry and Molecular Biology, Semmelweis University Budapest, Hungary; 5Institute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians-Universität München, Germany; 6Member of German Center for Diabetes Research (DZD), Germany; 7Chair of Experimental Genetics Experimental Genetics, School of Life Science Weihenstephan, Technische Universität München, Germany; 8BioMediTech & Tampere University Hospital, Faculty of Medicine and Health Technology, Tampere University, Finland; 9Contributed equally Molecular insights into the role of complex V deficiency in heart development, function and disease 1Stem Cell Unit, Clinic for Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany; 2German Center for Cardiovascular Research (DZHK), partner site Göttingen, Germany; 3Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany; 4Research Group Mitochondrial Structure and Dynamics, Department of NanoBiophotonics, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany Establishing mammalian cell models for research of NDUFS1-associated diseases 1Heinrich Heine University Düsseldorf, Germany; 2IUF- Leibniz Research Institute for Environmental Medicine A neuronal model of mtDNA disease reveals a compensatory reprogramming of the electron transfer chain during neuronal maturation 1Wellcome Centre for Mitochondrial Research, Newcastle University, United Kingdom; 2Metabolism Theme, David Geffen School of Medicine, University of California, Los Angeles (UCLA), CA, USA Development of mutant mtDNA-targeted TALENs and their application to iPSC-based mitochondrial disease model. Fujita Health University School of Medicine, Japan Deficits in mitochondrial oxidative phosphorylation enhance SARS-CoV-2 replication 1Children's Hospital of Philadelphia, USA; 2University of Pennsylvania, USA; 3Boston University, USA; 4National Emerging Infectious Diseases Laboratories, Boston, USA Metabolic analysis of mouse sarcopenic skeletal muscle identifies new strategies to increase lifespan in C. elegans 1Karolinska Institutet, Sweden; 2Centre for Vision Research Duke-NUS & Singapore National Eye Centre, Singapore; 3Save Sight Institute at the University of Sydney, Australia; 4The University of Melbourne, Australia. Delineating mitochondrial pathology using a genome-wide CRISPR/Cas9 activation screen 1Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, NE2 4HH; 2NHS Highly Specialised Rare Mitochondrial Disorders Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE2 4HH Cancer and cellular senescence – two complementary stress models to study turnover and quality control of mitochondrial respiratory complexes. 1IMol Polish Academy of Sciences, Poland; 2ReMedy International Research Agenda Proteotoxicity induced mitochondrial integrated stress response in CHCHD10-linked adult-onset spinal muscular atrophy 1Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki; 2Helsinki Institute of Life Science HiLIFE, University of Helsinki; 3Genetically Modified Rodents Unit, Laboratory Animal Center, University of Helsinki; 4Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki; 5Faculty of Biological and Environmental Sciences, University of Helsinki; 6Division of Clinical Neurosciences, Turku University Hospital and University of Turku; 7Department of Neurology, Neuromuscular Research Center, Tampere University Hospital and Tampere University; 8Clinical Neurosciences, Neurology, Helsinki University Hospital Protective role of mitochondrial stress signaling and fragmentation in mitochondrial cardiomyopathy Max Planck Institute for Biology of Ageing, Cologne, Germany The Italian reappraisal on the most frequent genetic defects in hereditary optic neuropathies and the global top 10 1IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 2Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 3Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele, Milan, Italy; 4Azienda Ospedaliera San Camillo-Forlanini, Rome, Italy; 5Ospedale Oftalmico Roma, Rome, Italy; 6Ophthalmology Unit, University Hospital of Parma, Parma, Italy; 7Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy; 8Department of Translational Biomedicine and Neuroscience (DiBraiN), University of Bari Aldo Moro, Bari, Italy; 9Neuroophthalmology Service and Ocular Electrophysiology laboratory, Department of Ophthalmology, IRCCS Istituto Auxologico Italiano, Milan, Italy Aberrant ER-mitochondria communication in human mitochondrial disease 1Columbia University, USA; 2Centro de Investigaciones Biológicas “Margarita Salas”, Madrid, Spain Mitochondrial F0F1-ATP synthase conditions the responsiveness of mitochondria to fission 1MITOVASC Université d'Angers, France; 2Departments of Biochemistry and Molecular Biology, University Hospital Angers, Angers, France; 3Laboratoire de Neurobiologie et Neuropathologie, Centre Hospitalier Universitaire d'Angers, Angers, France A screening method for mitochondrial disorders by high-resolution respirometry 1National Institute of Chemical Physics and Biophysics, Estonia; 2Clinic of Internal Medicine, East-Tallinn Central Hospital, Estonia AK3, adenylate kinase isozyme 3, is a new gene associated with PEO and multiple mtDNA deletions 1Fondazione IRCCS Istituto Neurologico Besta, Italy; 2Vall d'Hebron Research Institute, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Autonomous University of Barcelona, Barcelona, Spain; 3Centro Sclerosi Multipla, P.O. Binaghi, ASL Cagliari, Italy; 4Technical University of Munich, School of Medicine, Institute of Human Genetics, 81675 Munich, Germany; 5Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany; 6Department of Pathophysiology and Transplantation (DEPT), University of Milan, Italy Heterozygous missense variants in NUTF2 (nuclear transport factor 2) gene, mapping at the OPA8 locus, cause Dominant Optic Atrophy 1IRCCS - Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica - Bologna (Italy); 2Studio Oculistico d'Azeglio - Bologna (Italy); 3Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele - Milano (Italy); 4Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM) - Madrid (Spain); 5Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII - Madrid (Spain); 6Grupo de investigación traslacional con células iPS, Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12), Madrid, Spain; Centro de Investigación Biomédica en Red (CIBERER) - Madrid (Spain); 7Université d’Angers, MitoLab team, UMR CNRS 6015 - INSERM U1083, Unité MitoVasc - Angers (France); 8Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University - Paris (France); 9Departments of Biochemistry and Genetics, University Hospital Angers - Angers (France); 10Molecular Genetics Laboratory, Institute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany; 11Depart. of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna - Bologna (Italy) Southern African paediatric patients with King Denborough syndrome are exclusively associated with an autosomal recessive STAC3 variant: is this a highly prevalent secondary mitochondrial disease in this African population? 1Human Metabolomics, North-West University, Potchefstroom, South Africa; 2Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa; 3Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; 4Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; 5https://www.ucl.ac.uk/genomic-medicine-neuromuscular-diseases/global-contributor-list Long-read NGS for detection of mitochondrial DNA large-scale deletions and complex rearrangements 1Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy); 2University of Milan (Milan, Italy) Quantification of all 12 canonical ribonucleotides by real-time fluorogenic in vitro transcription 1Folkhalsan Research Center, Finland; 2Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki Quantifying mitochondrial proteome remodeling during macrophage polarization University of Lausanne, Switzerland Mitochondrial injury in warm ischemia studied by high-resolution respirometry Oroboros Instruments GmBH, Austria MitoCluster: integrated phenotyping and mouse model generation platform for mitochondrial disease and dysfunction 1Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK; 2Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge UK; 3Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, UK; 4NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK; 5European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK; 6Cancer Research UK Beatson Institute, Glasgow, UK; 7Institute of Cancer Sciences, University of Glasgow, Glasgow, UK; 8Mary Lyon Centre MRC Harwell, UK; 9University of Padua, Italy |
4:30pm - 6:00pm | Session 2.4: New technological developments and OMICS Location: Bologna Congress Center - Sala Europa Session Chair: Holger Prokisch Session Chair: Leonid Sazanov Invited Speaker: :S. Churchman; :H. Hillen |
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Invited
Decoding the regulatory principles of mitochondrial DNA: packaging, expression, and impact on cellular metabolism Harvard Medical School, United States of America Invited
Mechanisms of mitochondrial RNA biogenesis in health and disease 1Department of Cellular Biochemistry, University Medical Center Göttingen, Germany; 2Research Group Structure and Function of Molecular Machines, Max-Planck-Institute for Multidisciplinary Sciences Göttingen, Germany Oral presentation
Disruption of mitochondrial function induces cell lineage-specific compensatory transcriptional responses during early embryonic development 1Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; 2Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; 3Novo Nordisk Research Centre Oxford, Innovation Building, University of Oxford, Old Road Campus, Oxford, UK; 4Functional Genomics Centre, Milner Therapeutics Institute, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK; 5Department of Medical Biochemistry and Cell Biology, University of Gothenburg, PO Box 440, Gothenburg 405 30, Sweden; 6Max Planck Institute for Biology of Ageing, Cologne, Germany; 7Biosciences Institute, Faculty of Medical Sciences, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK Oral presentation
Single-cell multi-omics reveals dynamics of purifying selection of pathogenic mitochondrial DNA across human immune cells 1Department of Pathology, Stanford University, Stanford, CA 94305, USA; 2Parker Institute of Cancer Immunotherapy, San Francisco, CA 94129, USA; 3Department of Genetics, Stanford University, Stanford, CA 94305, USA; 4Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; 5Division of Hematology / Oncology, Boston Children’s Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA; 6Berlin Institute of Health at Charité – Universitätsmedizin Berlin, Charitéplatz 1, 10117 Berlin, Germany; 7Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin Institute for Medical Systems Biology (BIMSB), 10115 Berlin, Germany; 8Institute of Biotechnology, Technische Universität Berlin, Berlin, Germany; 9Department of Biology, Chemistry, Pharmacy, Freie Universität Berlin, Berlin, Germany; 10Technology Innovation Lab, New York Genome Center, New York, NY 10013, USA; 11Paulson School of Engineering and Applied Sciences, Harvard University, Cambridge, MA 02134, USA; 12Center for Pediatric Neurosciences, Mitochondrial Medicine, Cleveland Clinic, Cleveland, OH 44195, USA; 13Department of Pathology, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA; 14Department of Pediatric Oncology, Charité-Universitätsmedizin Berlin, Campus Virchow Klinikum, 13353 Berlin, Germany; 15Department of Computer Science, Stanford University, Stanford, CA 94305, USA; 16Department of Biology and Koch Institute, Massachusetts Institute of Technology, Cambridge, MA 02139, USA; 17Current address: Immunai, New York, NY 10114, USA; 18Current address: 10x Genomics, San Francisco, CA 94111, USA; 19Current address: Genentech, San Francisco, CA 94080, USA Flash Talk
Quantifying mitochondrial proteome remodeling during macrophage polarization University of Lausanne, Switzerland Flash Talk
Quantification of all 12 canonical ribonucleotides by real-time fluorogenic in vitro transcription 1Folkhalsan Research Center, Finland; 2Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki Flash Talk
Long-read NGS for detection of mitochondrial DNA large-scale deletions and complex rearrangements 1Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy); 2University of Milan (Milan, Italy) |
6:00pm - 7:00pm | Poster session Location: Bologna Congress Center Session topics: - Modelling pathogenic mechanisms: OXPHOS, metabolic rewiring and tissue specificity |
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Maintenance on mitochondrial complexes ensures bioenergetic function in differentiated cells 1Institute for Cardiovascular Physiology, Goethe University Frankfurt, Germany; 2Molecular Bioinformatics, Goethe University, Frankfurt, Germany Investigating pathogenicity and tissue-specificity of mitochondrial aminoacyl-tRNA synthetase defects AARS2, EARS2 and RARS2 in neurons Department of Clinical Neurosciences, University of Cambridge, United Kingdom Mutations in Coq2 leads to severe developmental delay and early death in both zebrafish and mouse 1Ibs.Granada, Granada, Spain; 2Physiology Department, Biomedical Research Center, University of Granada, Granada, Spain; 3Biofisika Institute (CSIC,UPV-EHU) and Department of Biochemistry and Molecular Biology, University of Basque Country, Leioa, Spain Pathogenic variants of the mitochondrial metallochaperone SCO1 result in a severe, combined COX and copper deficiency that causes a dilated cardiomyopathy in the murine heart. 1University of Saskatchewan, Canada; 2Auburn University Tissue-specific adaptation of stress responses upon COX10 deficiency 1CECAD Research Center, Germany; 2Institute for Mitochondrial Diseases and Aging, Medical Faculty, University of Cologne Using iPSC-derived neurons to unravel the pathomechanisms of Leber’s hereditary optic neuropathy 1Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; 2IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 3Division of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), San Raffaele Scientific Institute, via Olgettina 60, 20132, Milan, Italy; 4National Research Council (CNR), Institute of Neuroscience, Milan, Italy; 5Department of Medical Sciences, Laboratory for Technologies of Advanced Therapies, University of Ferrara, 44121 Ferrara, Italy; 6Maria Cecilia Hospital, GVM Care & Research, 48033, Cotignola, Ravenna, Italy; 7Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy Stem cell modelling of mitochondrial disease-linked cardiomyopathy 1Murdoch Children’s Research Institute, The Royal Children's Hospital, Melbourne, VIC, Australia; 2Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia; 3Department of Biochemistry and Pharmacology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, Australia; 4Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC, Australia; 5Victorian Clinical Genetics Services, The Royal Children’s Hospital, Melbourne, VIC, Australia; 6The Novo Nordisk Foundation Center for Stem Cell Medicine (reNEW), Murdoch Children's Research Institute, Melbourne, VIC, Australia; 7Melbourne Centre for Cardiovascular Genomics and Regenerative Medicine, The Royal Children's Hospital, Melbourne, VIC, Australia; 8Department of Anatomy and Physiology, School of Biomedical Sciences, The University of Melbourne, Melbourne, VIC, Australia Biochemical and computational approaches to dissect the effect of MT-CYB pathogenic mutations on respiratory chain activity and assembly Department of Pharmacy and Biotechnology, University of Bologna, Italy Exploring the assembly and maintenance of mitochondrial complex I by complexome profiling-based approaches 1Institute for Cardiovascular Physiology, Goethe University Frankfurt, Germany; 2Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands Functional involvement of actin-binding Gelsolin on mitochondrial Oxphos dysfunction Fundación Hospital 12 de Octubre, Spain In vivo role of respiratory complex I NDUFA10 subunit in dNTP homeostasis 1Research Group on Neuromuscular and Mitochondrial Disorders, Vall d’Hebron Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain; 2Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; 3BCNatal | Fetal Medicine Research Center (Hospital Clínic and Hospital Sant Joan de Déu), University of Barcelona, Barcelona 08028, Spain. and Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona 08036, Spain.; 4Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, Australia; 5Instituto de Investigación, Hospital Universitario 12 de Octubre, Avda. de Córdoba s/n, 28041 Madrid, Spain.; 6Laboratory of Metabolism and Obesity, Vall d'Hebron - Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain; CIBERDEM, CIBER on Diabetes and Associated Metabolic Diseases, Instituto de Salud Carlos III, Barcelona, Spain Modeling POLRMT pathogenic variants in the mouse 1Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden; 2Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Karolinska Institutet, Stockholm, Sweden; 3Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden The role of the CCR4 family member ANGEL1 in the expression of mitochondrial-targeted proteins 1Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden; 2Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Tissue-specific bioenergetics in mouse models of mitochondrial disease 1Università di Padova; 2Semmelweis University; 3Universität Innsbruck; 4University of Sussex Yeast as a tool to investigate variants in mtARS genes associated with mitochondrial diseases 1Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy; 2Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; 3Department of Medical Physiopathology and Transplantation, University of Milan, Milan, Italy A mutation in mouse mt-Atp6 gene induces respiration defects and opposed effects on the cell tumorigenic phenotype 1University of Zaragoza, Spain; 2University of Zaragoza, Peaches Biotech Group, Spain; 3Fundación Centro Nacional de Investigaciones Cardiovasculares Carlos III, Spain A systemic Muscle-WAT crosstalk progressively depletes protein and fat stores aggravating mitochondrial myopathy. 1Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY; 2Weill Cornell Medicine, Department of Pharmacology, New York, NY; 3Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy; Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy. A novel mitochondrial assembly factor RTN4IP1 has an essential role in the final stages of Complex I assembly 1Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; 2Department of Applied Sciences, Faculty of Health & Life Sciences, Northumbria University, Newcastle upon Tyne, UK; 3Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, QC, Canada; 4Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO 63110, USA; 5Functional Proteomics Group, Institute for Cardiovascular Physiology, Goethe University Frankfurt, 60590, Frankfurt am Main, Germany ETFDH supports OXPHOS efficiency in skeletal muscle by regulating coenzyme Q homeostasis 1Department of Molecular Biology, Centro de Biología Molecular "Severo Ochoa" (CBMSO-UAM-CSIC), Madrid, Spain; 2Instituto Universitario de Biología Molecular (IUBM), Autonomous University of Madrid, Madrid, Spain; 3Centro de Investigación Biomédica en red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; 4Instituto de Investigación Hospital 12 de octubre, i+12, Universidad Autónoma de Madrid, Madrid, Spain Metabolic rewiring as an adaptive mechanism in COX null cells 1Department of Bioenergetics, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic; 2Faculty of Science, Charles University, 12800 Prague, Czech Republic; 3Laboratory of Translational Metabolomics, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic Metabolic rewiring due to progressive increase in mtDNA mutation heteroplasmy reveals markers of disease severity 1North-West University, South Africa; 2Osaka University, Japan; 3Radboud University Medical Center, Netherlands; 4University of Tsukuba, Japan Novel or rare AIFM1 pathogenic variants: their impact on mitochondrial metabolism and clinical manifestation in eight patients, including 3 girls 1Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague; 2Institute of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava Pathological molecular mechanisms underlying COA8 loss of function 1Department of Biomedical Sciences, University of Padova, Padova, Italy; 2Veneto Institute of Molecular Medicine, Padova, Italy; 3Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; 4University of Texas Southwestern Medical Center, Dallas, TX, USA; 5Department of Chemical Sciences, University of Padova, Padova, Italy; 6Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany; 7Department of Neurosciences, University of Padova, Padova, Italy Retinal pathophysiology characterisation of the novel mitochondrial heteroplasmy mouse model 1University of Cambridge, United Kingdom; 2Newcastle University, United Kingdom Impaired spermatogenesis driven by mitochondrial dysfunction and ferroptosis in primary spermatocytes in a mouse model of Leigh syndrome 1University of Pennsylvania,USA; 2University of Angers, SFR ICAT, SCIAM, 49000 Angers, France; 3MITOLAB, University of Angers, INSERM U1083, France; 4Pablo de Olavide University, Spain; 5Neuromuscular Reference Center CHU Angers, France Mitophagy dysfunction in mitochondrial myopathy and therapy by mitophagy activator CAP1902 1STEMM Research Program, Biomedicum Helsinki, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 2Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; 3Department of Pharmacology, Center for Innovations in Brain Science, University of Arizona, Tucson, AZ, USA; 4Department of Medicine, Endocrinology, and Department of Molecular and Medical Pharmacology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA Mtfp1 controls oxidative phosphorylation and cell death in liver disease 1Institut Pasteur, Mitochondrial Biology Group, CNRS UMR 3691, Université Paris Cité, Paris, France.; 2Institut Pasteur, Biomics Technological Platform, Université Paris Cité, Paris, France.; 3Institut Pasteur, Bioinformatics and Biostatistics Hub, Université Paris Cité, Paris, France.; 4Institut Pasteur, Proteomics Core Facility, MSBio UtechS, UAR CNRS 2024, Université Paris Cité, Paris, France.; 5Institut Pasteur Ultrastructural Bio Imaging, UTechS, Université Paris Cité, Paris, France.; 6Platform for Metabolic Analyses, SFR Necker, INSERM US24/CNRS UMS 3633, Paris, France.; 7Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Australia. Non-canonical function of succinate dehydrogenase assembly factor 2 (SDHAF2) during OXPHOS dysfunction 1Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia; 2Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia; 3Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia; 4Metabolomics Australia, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia; 5Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, VIC, Australia NUAK1-dependent metabolic underpinnings of adult muscle stem cells Physiopathology and Genetics of Neurons and Muscles Laboratory, Institut NeuroMyoGène, Lyon, France A novel approach to measure complex V ATP hydrolysis in frozen cell lysates and tissue homogenates 1Department of Medicine, Endocrinology, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095 USA; 2Metabolism Theme, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095, USA; 3Department of Molecular and Medical Pharmacology, University of California, Los Angeles, CA, 90095, USA; 4Molecular & Cellular Integrative Physiology, University of California, Los Angeles, CA, 90095, USA.; 5Institut de Biologia Molecular de Barcelona, IBMB-CSIC, Barcelona, Catalonia, 08028, Spain OxPhos defects cause cell-autonomous and whole-body signs of hypermetabolism in cells and in patients with mitochondrial diseases 1Columbia University Irving Medical Center, United States of America; 2University of Florida, United States of America; 3Angers University, UMR CNRS 6015 - INSERM U1083, MitoVasc Institute, Angers, France; 4Yale University, United States of America; 5University of Pennsylvania, United States of America; 6Stanford University, United States of America; 7University of California San Francisco, United States of America; 8Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; 9University of Copenhagen, Denmark; 10University of Udine, Italy; 11Altos labs, United States of America; 12University of Texas Southwestern Medical Center, United States of America; 13University of Pittsburgh, United States of America; 14Thomas Jefferson University, United States of America Dysfunction of mitochondrial chaperone HSP60 triggers disruption of mitochondrial pathways activating multiple regulatory responses 1Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University, Aarhus, Denmark; 2Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark; 3Department of Forensic Medicine, Aarhus University, Aarhus, Denmark; 4Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark; 5Center of Functionally Integrative Neuroscience, Department of Clinical Medicine, Aarhus University, Aarhus, Denmark Generation of iPSCs derived neural progenitors and cardiomyocytes as cellular models to study the pathophysiology of Pearson Syndrome 1Unit of Medical genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; 2Istituto Auxologico Italiano IRCCS, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy; 3Department of Biotechnology and Biosciences, University of Milano - Bicocca, Milan, Italy High aerobic exercise capacity predicts increased mitochondrial response to exercise training 1Department of Cardiothoracic Surgery, University Hospital of Friedrich-Schiller-University Jena, Germany; 2Department of Physiology and Pharmacology, University of Toledo, Toledo, OH, United States; 3Department of Anesthesiology, University of Michigan, Ann Arbor, MI, United States Investigating the role of LONP1 in heart and skeletal muscle metabolism 1Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), 50931 Cologne, Germany; 2Department III of Internal Medicine, Heart Center, University Hospital of Cologne, 50931 Cologne, Germany; 3Center for Molecular Medicine Cologne (CMMC), 50931 Cologne, Germany Mitochondrial dysfunction promotes liver fibrosis through the ACOT2-MCT6-OXCT1 axis. 1Karolinska Institutet, Sweden; 2Zhengzhou University, China; 3Norwegian Veterinary Institute, Norway PNC2 (SLC25A36) deficiency associated with the hyperinsulinism/hyperammonemia syndrome 1Università degli Studi di Bari Aldo Moro, Italy; 2Libera Università Mediterranea Giuseppe Degennaro, Italy; 3Department of Pediatrics and Genetics, Al Makassed Hospital and Al-Quds University, Palestine.; 4Department of Genetics, Hadassah, Hebrew University Medical Center, Israel Cultured neurons with CoQ10 deficiency reveal alterations of lipid metabolism 1Department of Neurology, Columbia University Irving Medical Center, New York, NY, 10032, United States; 2IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy; 3Institute of Biotechnology, Biomedical Research Center (CIBM), Health Science Technological Park (PTS), University of Granada, Armilla, Granada, 18100, Spain; 4Department of Pharmacy Practice and Science, College of Pharmacy, University of Nebraska Medical Center, 986145 Nebraska Medical Center, Omaha, NE; 5Unita` di Genetica delle Malattie Neurodegenerative e Metaboliche, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, 20126, Italy An engineered variant of MECR reductase reveals indispensability of long-chain acyl-ACPs for mitochondrial respiration 1Faculty of Biochemistry and Molecular Medicine, University of Oulu, Finland; 2Biocenter Oulu, University of Oulu, Oulu, Finland; 3Faculty of Physics, University of Warsaw, Warsaw, Poland; 4Molecular and Cellular Modeling Group, Heidelberg Institute for Theoretical Studies (HITS), Heidelberg, Germany; 5Department of Biochemistry and Molecular Biology, University of Würzburg, Würzburg, Germany; 6Zentrum für Molekulare Biologie (ZMBH), DKFZ-ZMBH Alliance and Interdisciplinary Center for Scientific Computing (IWR), Heidelberg University, Heidelberg, Germany Antibiotics directly affect mitochondrial respiration 1Technische Universität München, Germany; 2Oroboros Instruments GmbH, Innsbruck, Austria; 3Helmholtz Zentrum München, Germany Can transmission of mitochondria over the species barrier promote climate change adaptation? 1Tampere University, Finland; 2University of Eastern Finland Developing an in vitro model to study the impact of the m.3243A>G mutation in iPSC-derived myofibers University College London, United Kingdom Discordant phenotype in fibroblast cell lines generated from the same MELAS patient 1IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy; 2Department of Biomedical and Neuromuscular Sciences (DIBINEM), University of Bologna Generation of a novel CoQ deficient mouse model to elucidate the role of COQ4 Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA. Perivascular adipose tissue remodeling impairs mitochondrial function in thermoneutral-housed rats 1University of Colorado/Rocky Mountain Regional VA Medical Center, United States of America; 2Cornell College, United States of America Temporal analysis of mitochondrial complexome profiling coupled to multi-omics analysis unveils implications of CIV remodelling in postnatal heart development University of Cologne, Germany Mitochondrial dysfunction in immune cells leads to distinct transcriptome profile and improved immune competence in Drosophila 1Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland; 2Department of Molecular Biology, Umeå University, Umeå, Sweden; 3Institute of Evolutionary Biology, School of Biological Sciences, University of Edinburgh, United Kingdom Molecular mechanisms of extraocular muscle manifestation in mitochondrial myopathy STEMM, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland Redox metabolites and transporters: Differential expression and ratios in specific Ndufs4 knockout mice organs. Human Metabolomics, North-West University, South Africa What makes folding of a mitochondrial protein dependent on the HSP60/HSP10 chaperone complex? Aarhus University and Aarhus University Hospital, Denmark OXPHOS composition is altered in the FXNI151F mouse model of Friedreich Ataxia in a progressive and a tissue-specific way Dept. Ciències Mèdiques Bàsiques, Fac. Medicina, Universitat de Lleida. IRB Lleida. Disease causing-Mfn2 mutations alter mitochondrial fusion and fission dynamics and metabolism. 1Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK.; 2School of Biological Sciences, Department of Cellular and Molecular Biology, Pontificia Universidad Catolica de Chile, Santiago, Chile. Dissecting the mitochondrial disease-associated ATAD3 gene cluster and its pathogenic variants 1Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Victoria,Australia; 2Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia; 3Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia; 4Ian Holmes Imaging Centre, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Melbourne, Victoria, Australia; 5Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia; 6Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, Victoria, Australia; 7Harry Perkins Institute of Medical Research and The University of Western Australia Centre for Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia; 8ARC Centre of Excellence in Synthetic Biology, QEII Medical Centre and University of Western Australia, Nedlands, Western Australia, Australia; 9Telethon Kids Institute, Northern Entrance, Perth Children's Hospital, 15 Hospital Avenue, Nedlands, Western Australia, Australia; 10Mass Spectrometry and Proteomics Facility, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Victoria, Australia Dynamics of adenine nucleotides in colorectal cancer clinical material 1National Institute of Chemical Physics and Biophysics, Estonia; 2Tallinn University of Technology, Estonia; 3North Estonia Medical Centre The role of SURF1 protein in cytochrome c oxidase biogenesis 1Institute of Physiology of the Czech Academy of Sciences, Czech Republic; 2Institute of Microbiology, Czech Academy of Sciences, Trebon, Czech Republic; 3Departement of Biomedical Sciences, University of Padova, Padova, Italy; 4Departement of Neurosciences, University of Padova, Padova, Italy Depicting inclusion body myositis using a patient-derived fibroblast model 1Laboratory of Inherited Metabolic Disorders and Muscle Disease, Centre de Recerca Biomèdica CELLEX - Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) and Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain; 2Department of Internal Medicine, Hospital Clinic of Barcelona, Barcelona, Spain; 3CIBERER— Spanish Biomedical Research Centre in Rare Diseases, Madrid, Spain; 4CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain; 5Universitat Pompeu Fabra (UPF), Barcelona, Spain; 6Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu; Esplugues de Llobregat, Barcelona, Spain; 7Department of Cell Death and Proliferation, Institute of Biomedical Research of Barcelona (IIBB-CSIC), Liver Unit-HCB-IDIBAPS, Barcelona, Spain; 8CIBEREHD-Spanish Biomedical Research Centre in Hepatic and Digestive Diseases, Madrid, Spain; 9Department of Biomedicine, Cell Biology Unit, CELLEX-IDIBAPS, Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain Effect of physiological cell culture media on cell viability and NRF2 activation National Institute of Chemical and Biological Physics, Estonia Genetic and functional characterization of a new patient with COX4I1 deficiency 1Hospital Clinic, IDIBAPS, CIBERER, Barcelona, Spain; 2Hospital Universitario de Cruces, Spain Application of the Escherichia coli Model System to Study the Human Polyribonucleotide Phosphorylase Università degli Studi di Milano, Italy Phase two biotransformation is highly affected by mitochondrial disease: considerations for pharmacological therapies. Human Metabolomics, North-West University, South Africa Mitochondrial phenotyping of fibroblasts from Kearns Sayre’s patients to model the disease 1Laboratory of Inherited Metabolic Disorders and Muscle Disease, Centre de Recerca Biomèdica CELLEX - Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences - Universitat de Barcelona (UB); Barcelona, Spain.; 2Internal Medicine Department - Hospital Clínic de Barcelona; Barcelona, Spain.; 3CIBERER—Spanish Biomedical Research Centre in Rare Diseases; Madrid, Spain.; 4Hospital Sant Joan de Déu (HSJdD) de Barcelona, Barcelona, Spain.; 5Grupo de Enfermedades Mitocondriales, Instituto de Investigación Hospital 12 de Octubre (imas12). Madrid. Spain.; 6Centro de Biología Molecular S.O., Universidad Autónoma de Madrid (UAM); Madrid, Spain. Effect of various mutations in the GTPase and middle domain of Drp1 on the mitochondrial network, nucleoids, and peroxisomes 1Department of Paediatrics and Inherited Metabolic Disorders, Charles University and General University Hospital in Prague, Prague, Czech Republic; 2Institute of Physiology, The Czech Academy of Sciences, Prague, Czech Republic Importance of human ClpXP protease for mitochondrial function First Faculty of Medicine, Charles University; and General University Hospital in Prague Ketogenic diet mitigates the pathogenic phenotype in TMEM70 deficient animal models 1Institute of Physiology of the Czech Acad. Sci., Prague, Czech Republic; 2Institute of Molecular Genetics of the Czech Acad. Sci., Prague, Czech Republic; 3Faculty of Medicine, Charles University, Hradec Kralove, Czech Republic Mutation in Coq5 leads to CoQ10 deficiency, developmental delay and early death in zebrafish 1Physiology Department, Biomedical Research Center, University of Granada, Granada, Spain; 2Ibs.Granada, Granada, Spain Omega-3 supplementation effects on mitochondrial and metabolic profile in a rabbit model of 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, Medicine Department, 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; 5Department of Clinical Biochemistry, Institut de Recerca de Sant Joan de Deu, Esplugues de Llobregat, 08036 Barcelona, Spain Redundant and divergent roles of COQ8A and COQ8B in cell metabolism. 1Clinical Genetics Unit, Department of Women and Children’s Health, University of Padova and “Fondazione Istituto di Ricerca Pediatrica Città Della Speranza”, 35127 Padova, Italy.; 2Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari Aldo Moro, 70121 Bari, Italy; 3Department of Biomedical and Neuromotor Sciences, University of Bologna, I-40126 Bologna, Italy. Loss of CHCHD8 (COA4) caused mitochondrial respiratory Complex IV deficiency National Defense Academy, Japan Delving into the phenotypic heterogeneity of Coenzyme Q biosynthesis defects 1Centro Andaluz de Biología del Desarrollo/Universidad Pablo de Olavide-CSIC-JA, Seville, Spain; 2CIBERER, Instituto de Salud Carlos III, Madrid, Spain; 3Laboratorio de Fisiopatología Celular y Bioenergética, Seville, Spain. Investigating the impact of mtDNA point mutations on mitochondrial function and bioenergetics using patient fibroblasts and hiPSC derived neuronal models University College London, United Kingdom Human COQ10A and COQ10B genes are essential for Coenzyme Q function in mitochondrial respiration 1University of Padova, Italy; 2Isituto di Ricerca Pediatrica - Cittá della Speranza, Italy; 3Pablo de Olavide University, Sevilla, Spain The use of β-RA in leptin-deficient mice reveals novel mechanisms of this compound for the treatment of obesity 1Physiology Department, Biomedical Research Center, University of Granada, Granada, Spain; 2Ibs.Granada, Granada, Spain Oocyte-specific mitofusin 2 knockout enhances the metabolic disfunction of offspring born to obese mothers Federal University of Sao Carlos, Brazil Off-target effects of etomoxir: inhibition of mitochondrial Complex I and fatty acid oxidation 1Oroboros Instruments, Innsbruck, Austria; 2Dept Biochem, Semmelweis Univ, Budapest, Hungary; 3CNC-Center Neurosci and Cell Biol, Univ Coimbra, Portugal; 4IIUC-Inst Interdisciplinary Research, Univ Coimbra, Portugal; 5CIBB-Center for Innovative Biomed Biotechnol, Univ Coimbra, Portugal; 6PDBEB-PhD Programme in Exp Biol Biomed, IIUC, Univ Coimbra, Portugal; 7Lab Pharmaceut Pharmacol, Latvian Inst Organic Synthesis, Riga, Latvia Mitochondrial alterations in sirtuin1 heterozygous mice fed high fat diet and melatonin 1Dept Biomedical Sciences for Health, University of Milan, Milan, Italy; 2Laboratorio Morfologia Umana Applicata, IRCCS Policlinico San Donato, Milan, Italy; 3Dept Clinical and Experimental Sciences, University of Brescia, Brescia, Italy; 4Center for Electron Microscopy, University of Belgrade, Belgrade, Serbia; 5Instituto de Investigaciones Biomedicas “Alberto Sols” (CSIC-UAM), Madrid, Spain Microproteins in metabolic regulation 1Duke-NUS Medical School, Singapore; 2University of Melbourne, Australia; 3University of Utah, USA; 4University of Southampton, UK Oxphos deficiency indicates novel functions for the mitochondrial protein import subunit tim50 1Department of Biochemistry and Pharmacology and the Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, 3010, Australia; 2Queensland Children’s Hospital, Department of Metabolic Medicine, South Brisbane, Brisbane, Queensland, 4001, Australia; 3Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Victoria, 3052, Australia; 4Department of Paediatrics, University of Melbourne, Melbourne, Victoria, 3052, Australia; 5Victorian Clinical Genetics Services, Royal Children’s Hospital, Melbourne, Victoria, 3052, Australia The levels and activation state of the pyruvate dehydrogenase complex modulate the SCAFI-dependent organization of the mitochondrial respiratory chain 1Instituto de Investigación Hospital 12 de Octubre, Madrid 28041, Spain; 2Department of Biomedical Sciences, University of Padova, 35131 Padova, Italy; 3Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723, Madrid, Spain Development of a yeast model to characterize OPA1 mutations associated with different neuromuscular disorders 1Clinical Genetics Unit, Department of Women’s and Children’s Health, University of Padua, and Istituto di Ricerca Pediatrica (IRP) Città della Speranza, Padua, Italy; 2Department of Biomedical Sciences, University of Padua, Padua, Italy An ultra-special family with an ultra-rare condition: three children with mithochondrial complex III deficiency due to homozygous mutations in Lyrm7 Bolzano Hospital, Italy |
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 |
Date: Wednesday, 14/June/2023 | |
8:00am - 6:00pm | Slides Center Location: Slides Center |
8:00am - 6:00pm | Registration Desk Location: Bologna Congress Center |
9:00am - 10:30am | Session 4.1: Therapy 1: preclinical developments Location: Bologna Congress Center - Sala Europa Session Chair: Michal Minczuk Session Chair: Maria Falkenberg Invited Speaker: N. Larsson; C. Viscomi |
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Invited
The Organization of the Respiratory Chain and its role in Metabolism Karolinska Institutet, Sweden Invited
Developing new therapies for mitochondrial diseases University of Padova, Italy Oral presentation
AAV-mediated transduction of the nuclear-coded mitochondrial ANT1 gene can ameliorate mouse Ant1-/- pathology: a step toward the treatment of mitochondrial cardiomyopathy 1The Children's Hospital of Philadelphia, PA USA; 2Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA Oral presentation
Preclinical studies of efficacy and genetic safety of deoxyribonucleosides as a therapy for mitochondrial DNA maintenance defects 1Research Group on Neuromuscular and Mitochondrial Diseases, Vall d’Hebron Research Institute, Universitat Autònoma de Barcelona, Spain; 2Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; 3Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; 4Institut Cochin, INSERM Unité 1016–Centre National de la Recherche Scientifique (CNRS), Unité Mixte de Recherche (UMR) 8104–Service de Biochimie Métabolique et Centre de Génétique Moléculaire et Chromosomique, Groupement Hospitalier Universitaire (GHU) Pitié-Salpétrière, Assistance Publique–Hôpitaux de Paris (AP–HP)–Université Paris Descartes, Paris, France; 5Mitochondrial and Neuromuscular Disorders Group, '12 de Octubre’ Hospital Research Institute (imas12), Madrid, Spain; 6Pediatric Neurology Department, Badajoz Hospital Complex, Badajoz, Spain; 7Pediatric Neurology Department, Donostia University Hospital, San Sebastian, Spain; 8Neurology Department, Donostia University Hospital, Osakidetza, San Sebastián. Neuromuscular Group, Neurosciences Area, Biodonostia Research Institute, San Sebastián, Spain; Neurosciences Department, Basque Country University, San Sebastián, Spain; 9Centro de Investigación en Red de Enfermedades Neurodegenerativas, CIBERNED (CIBER), Instituto Carlos III, Madrid, Spain; 10Children Neuromuscular Diseases Unit, Pediatrics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain; 11Department of Neurology, Neuromuscular Diseases Unit, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain; 12Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, Barcelona, Spain; 13Division of Clinical Microbiology, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden; 14Department of Clinical Movement Neurosciences, Royal Free Campus, University College of London, Queen Square Institute of Neurology, London, UK; 15Neuromuscular Unit, Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona, Spain; 16Neuropediatra, Neurolinkia & Hospital Viamed Santa Ángela De la Cruz, Sevilla, Spain; 17Neuromuscular Diseases Unit, Neurology Department, Hospital Universitario Virgen del Rocío/ Instituto de Biomedicina de Sevilla, Sevilla, Spain Flash Talk
The mitoDdCBE system as a mitochondrial gene therapy approach 1University of Miami, United States of America; 2Max Planck Institute of Biochemistry, Germany; 3Broad Institute, Harvard University, and HHMI, United States of America Flash Talk
Genetic variants impact on NQO1 expression and activity driving efficacy of idebenone treatment in Leber’s hereditary optic neuropathy cell models 1Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 2IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; 3Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; 4Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy. Flash Talk
Peptide mimetic molecules as potential therapeutic agents against diseases related to mt-tRNA point mutations. 1Department of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, Italy; 2Department of Biochemical Sciences "A. Rossi Fanelli, Sapienza University of Rome, Italy; 3Institute of Molecular Biology and Pathology (IBPM), National Research Council (CNR) of Italy |
10:30am - 10:45am | Coffee Break Location: Bologna Congress Center |
10:45am - 12:15pm | Session 4.2: Therapy 2: clinical trials Location: Bologna Congress Center - Sala Europa Session Chair: Caterina Garone Session Chair: Chiara La Morgia |
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Invited
Clinical trials for Leber hereditary optic neuropathy Emory University School of Medicine, United States of America Invited
Development of deoxynucleoside therapy for mitochondrial DNA depletion/deletions syndrome 1Columbia University Irving Medical Center, New York, USA, United States of America; 2University of Bologna, Bologna, Italy; 3Univerity of Malaga, Malaga, Spain; 4University Hospital, 12 de Octubre, Madrid, Spain; 5Vall d’Hebron Institut de Recerca, Barcelona, Spain Oral presentation
Histopathological and molecular characterization in ocular post-mortem analyses following AAV2 gene therapy for LHON 1IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 2Doheny Eye Institute, UCLA School of Medicine, Los Angeles, CA, USA; 3IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; 4Departments of Ophthalmology, Neurology and Neurological Surgery, Emory University School of Medicine, Atlanta, GA, USA; 5Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada; 6Charles River Laboratories, Evreux, France; 7Gensight Biologics, Paris, France Oral presentation
Combatting myopathy in m.3243A>G mutation carriers: first in human transplantation of autologous mesoangioblasts 1Department of Toxicogenomics, Maastricht University Medical Centre+, Maastricht, The Netherlands; 2School for Mental Health and Neurosciences (MHeNS), Maastricht University Medical Centre+, Maastricht, The Netherlands; 3Department of Neurology, Maastricht University Medical Centre+, Maastricht, The Netherlands; 4Department of Radiology, Maastricht University Medical Centre+, Maastricht, The Netherlands; 5School for Developmental Biology and Oncology (GROW), Maastricht University Medical Centre+, Maastricht, The Netherlands; 6Center for Cell and Gene Therapy (CCG), Leiden University Medical Center, Leiden, The Netherlands; 7Department of Rehabilitation Medicine, Maastricht University Medical Centre+, Maastricht, The Netherlands; 8SMRC – Sports Medicine Research Center, BIOMED - Biomedical Research Institute, Faculty of Medicine and Life Sciences, Hasselt University, Diepenbeek, Belgium; 9Neuromuscular and Mitochondrial research center (NeMo), Rotterdam/Maastricht, The Netherlands Flash Talk
PHEMI: Phenylbutyrate Therapy in Mitochondrial Diseases with lactic acidosis: an open label clinical trial in MELAS and PDH deficiency patients. 1Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Experimental Neuroscience, Unit of Medical Genetics and Neurogenetics, Milan, Italy; 2Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Pediatric Neurosciences, Milan, Italy; 3Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy Flash Talk
Niacin treatment improves metabolic changes in early-stage mitochondrial myopathy 1Research Program for Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 2Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 3Department of Neurosciences, Helsinki University Hospital, Helsinki, Finland; 4Department of Clinical Physiology and Nuclear Medicine, Laboratory of Clinical Physiology, Helsinki University Hospital, Helsinki, Finland; 5HUS Diagnostic Center, Radiology, Helsinki University and Helsinki University Hospital, Helsinki, Finland; 6Children’s Research Institute, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America; 7Obesity Research Unit, Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 8Healthy Weight Hub, Abdominal Center, Endocrinology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland; 9Helsinki University Hospital Diagnostic Centre, Helsinki, Finland Flash Talk
Use of lenadogene nolparvovec gene therapy for Leber hereditary optic neuropathy in early access programs 1IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 2Department of Neuro Ophthalmology and Emergencies, Rothschild Foundation Hospital, Paris, France; 3Centre Hospitalier National d’Ophtalmologie des Quinze Vingts, Paris, France; 4Departments of Neurology and Ophthalmology, Wills Eye Hospital and Thomas Jefferson University, Philadelphia, PA, USA; 5Department of Ophthalmology, Neurology, and Pediatrics, Vanderbilt University, and Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN, USA; 6Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; 7Institut de Génétique Médicale d’Alsace, CHU de Strasbourg, Strasbourg, France; 8Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilians-University, Munich, Germany; 9University Hospital, Ludwig-Maximilians-University, Munich, Germany; 10Service Explorations de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France; 11Service d'Ophtalmologie, CHU de Rennes, Rennes, France; 12Service d'Ophtalmologie, CHU de Bordeaux, Groupe Hospitalier Pellegrin, Bordeaux, France; 13Service d'Ophtalmologie, CHU de Nantes, Nantes, France; 14Service de Neuro-Cognition et Neuro-Ophtalmologie, CHU de Lyon, Lyon, France; 15Service d'Ophtalmologie, Centre Hospitalier de Valence, Valence, France; 16Service d'Ophtalmologie, CHU de Caen, Caen, France; 17Department of Ophthalmology, Blanton Eye Institute, Houston Methodist Hospital, Houston, Texas, USA; 18Retina Consultants, P.C, Hartford, Connecticut, USA; 19Service d'Ophtalmologie, Hôpital Ophtalmique Jules-Gonin, Lausanne, Switzerland; 20Centre Hospitalier de Wallonie Picarde, Tournai, Belgium; 21GenSight Biologics, Paris, France; 22Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; 23Department of Biomedical and Neuromotor Sciences, DIBINEM, Bologna, Italy |
12:15pm - 1:05pm | Industry Workshop: Pretzel Therapeutics Location: Bologna Congress Center - Sala Europa |
12:15pm - 1:15pm | Lunch Location: Bologna Congress Center - Sala Europa |
1:15pm - 2:45pm | Session 4.3: Therapy 3: reproductive options and mtDNA editing Location: Bologna Congress Center - Sala Europa Session Chair: Carlo Viscomi Session Chair: Daniela Zuccarello Invited Speaker: M. Herbert; M. Minczuk |
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Invited
Mitochondrial replacement in action 1Newcastle University, United Kingdom; 2Newcastle Fertility Centre Invited
The therapeutic potential of mitochondrial genome engineering MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK Oral presentation
MitoKO: A library of base editors for the precise ablation of all protein-coding genes in the mouse mitochondrial genome MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK Oral presentation
Risk of mtDNA reversal among children born after mitochondrial replacement therapy 1Oregon Health & Science University, United States of America; 2Center for Embryonic Cell and Gene Therapy, Oregon Health and Science University, United States of America Flash Talk
Specific elimination of m.3243A>G mutant mitochondria DNA using mitoARCUS 1Precision BioSciences - Durham, NC, United States of America; 2University of Miami - Miami, FL, United States of America Flash Talk
MitoCRISPR/Cas9 shifts mtDNA heteroplasmy not as effective as other site-specific nucleases. 1Novosibirsk State University, Novosibirsk, Russia; 2Institute of Cytology and Genetics SB RAS, Novosibirsk, Russia; 3Skolkovo Institute of Science and Technology, Moscow, Russia Flash Talk
Prenatal diagnostics for a family with 13513G>A mtDNA mutation associated with Leigh Syndrome 1Center for Embryonic Cell and Gene Therapy, Oregon Health and Science University, United States of America; 2Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology, Oregon Health and Science University, United States of America |
2:45pm - 4:15pm | Tea Break and poster session Location: Bologna Congress Center Session topics: - Late Breaking News - mtDNA maintenance and expression - Therapy 1: preclinical developments - Therapy 2: clinical trials |
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Precision Medicine Applied to Leigh Syndrome: development of an In Utero fetal gene therapy approach 1Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Italy; 2Fetal Medicine and Surgery Service, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; 3Department of Biomedical Sciences, University of Padova, Italy; 4Department of Neurosciences, University of Padova, Italy; 5Laboratorio di Tecnologie della Riproduzione, Avantea, Cremona, Italy; 6Department of Medical Biotechnology and Translational Medicine, University of Milan, Italy AAV-based liver-targeted gene therapy for MNGIE: proposal for a clinical trial 1MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK; 2Department of Clinical Neuroscience, University of Cambridge, Cambridge, UK; 3Vall d’Hebron Research Institute, Universitat Autònoma de Barcelona, and Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Catalonia Experimental model for studying clinical variability of Thymidine Kinase 2 deficiency with induced pluripotent stem cells 1Alma Mater Studiorum University of Bologna, Department of Medical and Surgical Sciences, Bologna, Italy; 2Alma Mater Studiorum University of Bologna, University of Bologna, Department of Pharmacy and Biotechnology, Bologna, Italy; 3IRCCS Istituto delle Scienze Neurologiche, Programma di Neurogenetica, Bologna, Italy; 4IRCCS Istituto delle Scienze Neurologiche, UOC Neuropsichiatia dell'età pediatrica, Bologna, Italy Mitochondrial genome variability in COVID-19 patients 1Azienda USL di Bologna - IRCCS Istituto delle scienze Neurologiche di Bologna, Italy, Italy; 2Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, BO, Italy; 3Infectious Diseases Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; 4Unit of Infectious Diseases and Clinical Microbiology, University Hospital Virgen Macarena, Institute of Biomedicine of Seville (IBIS)/CSIC, Seville, Spain; 5Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; 6Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy Decoding the role of optic atrophy1 (OPA1) non-synonymous single nucleotide polymorphisms in mitochondrial DNA maintenance defects Jawaharlal Nehru Centre for Advanced Scientific Research, India Feasibility, safety, and efficacy of Ketogenic Diet in patients with mitochondrial myopathy 1Department of Gastroenterology and Hepatology-Dietetics, Radboudumc, Nijmegen, The Netherlands; 2Radboud Centre for Mitochondrial Medicine (RCMM) , Nijmegen, The Netherlands; 3Department of Physiology, Radboudumc, Nijmegen, The Netherlands; 4Department of Internal Medicine, Radboudumc, Nijmegen, The Netherlands; 5University Children’s Hospital, Paracelsus Medical University, Salzburg, Austria; 6Human and Animal Physiology, Wageningen University, The Netherlands; 7Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands Degrading factors of mitoribosome quality control and their mitigation of translation-induced stress 1Wellcome Centre for Mitochondrial Research, United Kingdom; 2University of Helsinki Mitochondrial DNA Double-Strand Breaks lead to the formation of mtDNA deletions which are increased by MgmeI knockout in vivo. University of Miami, United States of America Mutating the binding interphases of SLIRP and LRPPRC uncover specific roles for these proteins in optimizing mitochondrial translation. 1Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden; 2National Bioinformatics Infrastructure Sweden (NBIS), Science for Life Laboratory, Lund University, Lund 223 87, Sweden A disease-causing mutation (p.F907I) reveals a novel pathogenic mechanism for POLG-related diseases. 1University of Gothenburg, Sweden; 2Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; 3Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden Mitoribosome intrinsic GTPase mS29 acts as a non-canonical molecular switch to facilitate mitochondrial translation 1University of Miami, United States of America; 2Stockholm University, Sweden Nucleoside supplementation in a zebrafish model of RRM2B mitochondrial DNA depletion syndrome alleviates disease associated symptoms. Department of Clinical Neurosciences, University of Cambridge, United Kingdom Non-stop mRNAs generate a ground state of mitochondrial gene expression noise Institute of Biotechnolgy, University of Helsinki, Finland Biochemical characterisation of pathological TOP3A variants associated with adult-onset mitochondrial disease 1Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden; 2Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne; 3Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne; 4Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne; 5The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; 6North East and Yorkshire Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, UK.; 7Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK.; 8Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; 9NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne; 10Nuffield Department of Women’s & Reproductive Health, The Women's Centre, University of Oxford, Oxford, UK.; 11Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London; 12Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil; 13Department of Internal Medicine, Universidade Federal do Rio Grande do Sul - Porto Alegre, Brazil.; 14Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul - Porto Alegre, Brazil.; 15Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, USA; 16Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; 17The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.; 18The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Israel; 19The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; 20Genomics Unit, The Center for Cancer Research, Sheba Medical Center, Israel.; 21Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; 22Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden. How hot can mitochondria be? Incubation at temperatures above 43 ºC induces the degradation of respiratory complexes and supercomplexes in intact cells and isolated mitochondria 1Department of Biochemistry and Molecualr and Cellular Biology, Universidad de Zaragoza, Spain; 2Institute for Biocomputation and Physics of Complex Systems (BIFI), Zaragoza, Spain; 3Peaches Biotech Group, Madrid, Spain; 4Fundación Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain; 5Centro de Investigaciones Biomédicas en Red en Fragilidad y Envejecimiento Saludable, Madrid, Spain Inhibition of mitochondrial protein Synthesis induces Biosynthesis of oxidative phosphorylation Complex V University College London, United Kingdom Linear DNA driven recombination in human mitochondria. 1University of Eastern Finland, Finland; 2King Abdullah University of Science and Technology (KAUST); 3University of Miami Miller School of Medicine; 4University of North Carolina at Chapel Hill Mitochondrial Topoisomerase 1 in ribonucleotide removal and mtDNA stability Umeå University, Sweden The (in)fidelity of human mitochondrial gene expression University of Helsinki, Finland The role of mitochondrial RNA polymerase in mtDNA replication priming University of Eastern Finland, Finland Mitochondrial content is significantly reduced during the early stages of human pluripotent stem cell differentiation University of Helsinki, Finland Loss of RNase H1 in early B cell development induces mitochondrial-based dysfunction 1DIR Eunice Kennedy Shriver National Institute of Child Health and Human Devlopment; 2Department of Molecular and Cellular Biology, University of Califofnia, Davis New insights into late-maturation steps of the human mitochondrial small ribosomal subunit 1Department of Cellular Biochemistry, University Medical Center Goettingen, Goettingen, Germany; 2Cluster of Excellence “Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells” (MBExC), University of Goettingen, Goettingen, Germany Early-stages during large mitoribosomal subunit assembly 1University Medical Center Göttingen, Germany; 2Cluster of Excellence (MBExC), University of Göttingen, Germany Effect of post-transcriptional modifications of tRNAMet on mitochondrial codon recognition Max Planck Institute of Multidisciplinary Sciences, Göttingen, Germany Establishing the OPA1 role in the mtDNA maintenance in cell models of Dominant Optic Atrophy (DOA) 1IRCCS, Istituto delle Scienze Neurologiche di Bologna, Italy - Programma di Neurogenetica; 2DIBINEM, Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Italy; 3Vall d'Hebron Research Institute, Centro de Investigación Biomédica en Red de Enfermedades Raras-CIBERER, Autonomous University of Barcelona, Barcelona, Spain Mutations affecting the relation between mtDNA synthesis and proofreading by POLγ Department of Medical Biochemistry and Cell Biology, University of Gothenburg, P.O. Box 440, SE-405 30 Gothenburg, Sweden Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation 1Genetics Section, Molecular and Clinical Sciences, St George’s, University of London, London, United Kingdom; 2Department of Biochemistry and Developmental Biology, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 3Research Programs Unit, Molecular Neurology, Biomedicum, University of Helsinki, • Helsinki, Finland; 4Department of Immunology, Institute of Clinical Medicine, University of Oslo and Oslo, University Hospital, Oslo, Norway; 5Core Facilities, St George’s, University of London, London, United Kingdom.; 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; 8Department of Genetics, Hadassah Medical Center & Faculty of Medicine, Hebrew University of Jerusalem. 9112001 Jerusalem Israel.; 9Bioinformatics and Genomics Program, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain; 10Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Barcelona, Spain; 11Institute of Biotechnology, University of Helsinki, Helsinki, Finland The role of mL45 N-terminus in mitochondrial translation under standard and stress conditions Department of Neurology, University of Miami, Miller School of Medicine, FL, USA Characterization of human mitochondrial translation elongation and ribosome recycling factors mtEFG1 and mtEFG2 Max-Planck Institute for Multidisciplinary Sciences, Germany Knock-out of OGG1 in HEK293 cells does not alter the formation of single strand breaks in mitochondrial DNA upon H2O2 treatment 1Institute of Experimental Epileptology and Cognition Research, University of Bonn, Germany; 2Department of Epileptology, University Hospital Bonn, Germany Ligase 3 is indispensable for repair of oxidative lesions of mtDNA but dispensable for circular genome end ligation University Bonn, Department of Epileptology, Germany Modulation of mtDNA heteroplasmy through endosomal-mitophagy 1Institute of Physiology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany; 2Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany; 3Institute of Genetics, University of Cologne, Germany The role of mitoSAM in mitochondrial gene expression 1Division of Molecular Metabolism, Karolinska Institutet, Stockholm, Sweden; 2Max Planck Institute of Biochemistry, Munich, Germany; 3Science for Life Laboratory, Department of Biochemistry and Biophysics, Stockholm University, Sweden; 4Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; 5Proteomics Core Facility, Max Planck Institute for Biology of Ageing, Cologne, Germany The slumbering mitochondrion awakes: monitoring mitochondrial gene expression during oocyte and early embryo development 1Newcastle Fertility Centre, International Centre for Life, Newcastle upon Tyne, NE1 3BZ, United Kingdom; 2Wellcome Centre for Mitochondrial Research, Newcastle University Biosciences Institute, Newcastle upon Tyne, NE2 4HH, United Kingdom How mitochondrial DNA metabolism shapes cellular senescence Department of Medical Biochemistry and Biophysics, Umeå University, Umeå 90736, Sweden Processing of stalled replication forks in mitochondria University of Eastern Finland, Finland Stochastic survival of the densest accounts for the expansion of mitochondrial mutations in the ageing of skeletal muscle fibres 1Department of Mathematics, Imperial College London, United Kingdom; 2EPSRC Centre for the Mathematics of Precision Healthcare, Imperial College London, United Kingdom Top3α is the replicative topoisomerase in mitochondrial DNA replication 1University of Eastern Finland, Finland; 2Radboud Center for Mitochondrial Medicine, Department of Paediatrics, Radboudumc, Nijmegen, The Netherlands Mitochondrial-nuclear compatibility in hare cybrids 1University of Eastern Finland, Finland; 2Tampere University, Finland Identification of drugs for the treatment of POLG-related diseases by means of a high throughput drug repurposing approach performed in Saccharomyces cerevisiae 1Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy; 2Department of Biology, University of Padova, Padova, Italy Mitochondrial genome replacement can rejuvenate aging cells Kyoto prefectural University of Medicine, Japan Project pearl: raising the profile of mitochondrial disease Wellcome Centre for Mitochondrial Research, Newcastle University, United Kingdom Innovative technology for regulating mitochondrial function in host cells 1Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan; 2FOREST Program, Japan Science and Technology Agency Japan, Saitama, Japan; 3Faculty of Engineering, Hokkaido University, Sapporo, Japan; 4Department of Pediatrics, Graduate School of Medicine, Hokkaido University, Sapporo, Japan CNS gene therapy in a mouse model of complex I encephalopathy University of Miami, United States of America Strategies for fighting mitochondrial diseases: AAV-based gene therapy 1Venetian Institute of Molecular Medicine, Padova; 2Department of Neuroscience, University of Padova; 3Department of Biomedical Sciences, University of Padova Cannabidiol ameliorates mitochondrial disease via PPARgamma activation 1Neuroscience Institute, Autonomous University of Barcelona, Bellaterra, Spain; 2Minoryx Therapeutics SL, Barcelona, Spain; 3Celltec-UB, Departament de Biologia Cellular, Fisiologia i Immunologia, Universitat de Barcelona, Barcelona, Spain; 4CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain Sonlicromanol improves phenotypic changes in models of Selenoprotein N-related myopathies 1Khondrion, Nijmegen, The Netherlands; 2Department of Pediatrics, RCMM, RadboudUMC, Nijmegen, The Netherlands; 3Radboud University, Radboud Institute for Biological and Environmental Sciences, Cluster Ecology & Physiology, Department of Animal Physiology, Nijmegen, The Netherlands; 4Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; 5Department of Pediatric Neurology, Centre of neuromuscular disorders in children and adolescents, University Clinic Essen, University of Duisburg-Essen, Germany Therapeutic interventions to regulate the Q-junction, 1C metabolism and the neuroinflammatory response. 1Physiology Department, Biomedical Research Center, University of Granada, Spain; 2Ibs. Granada, Granada, Spain Yeast as a model for searching drugs against pathologies caused by mutations in ACO2 1Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy; 2IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, Bologna, Italy; 3Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna MiR-181a/b modulation as a potential therapeutic approach for Stargardt disease treatment 1Telethon Institute of Genetics and Medicine,Italy; 2Institute for Genetic and Biomedical Research, CNR, Italy; 3Department of Translational Medical Science Federico II University of Naples, Italy; 4University of Campania Luigi Vanvitelli, Italy; 5Ecosustainable Marine Biotechnology Department, Stazione Zoologica Anton Dohrn, Italy MitoTALEN reduces mutant mtDNA load in the mouse CNS 1Department of Neurology, University of Miami Miller School of Medicine, Miami USA; 2Wellcome Centre for Mitochondrial Research, Biosciences Institute, Newcastle University, Newcastle UK Phosphodiesterase 5 inhibitors (PDE5i) as a promising treatment for MT-ATP6 associated mater-nally inherited Leigh Syndrome (MILS) 1Charité-Universitätsmedizin Berlin, Department of Neuropediatrics, Berlin, Germany; 2Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich Heine Universi-ty, Düsseldorf, Germany; 3Fraunhofer Institute for Translational Medicine and Pharmacology ITMP, ScreeningPort, Hamburg, Germany; 4University of Verona, Italy; 5Fondazione IRCCS Instituto Neurologico "C. Besta", Milano, Italy; 6Ludwig Maximilians University (LMU), München, Germany; 7University of Bologna, Italy; 8Freie Universität Berlin, Germany The effect of mitochondrial NMNAT3 overexpression on Alzheimer’s related proteinopathies University of Miami, United States of America In vitro models to test modulators of cellular NAD+ levels 1Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK; 2UCL School of Pharmacy, UCL, London, UK; 3NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK Novel small molecule improves mitochondrial function and mitophagy in a complex III deficiency model. 1Department of Medicine, Division of Endocrinology, David Geffen School of Medicine, Los Angeles, USA.; 2Capacity Bio, Los Angeles, USA; 3Department of Pharmacology, Center for Innovations in Brain Science, University of Arizona, USA; 4Institut de Biologia Molecular De Barcelona (IBMB-CSIC), Spain.; 5Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, USA Preservation of bioenergetics and inhibition of ferroptosis with the novel compound SBT-588 in Friedreich’s Ataxia cell models Stealth BioTherapeutics, Needham, MA, United States of America The use of a coenzyme Q10 encapsulated mitochondrial targeting lipid nanoparticle formulation has therapeutic effects on a drug-induced liver injury. 1Faculty of Pharmaceutical Sciences, Hokkaido University, Japan; 2Faculty of Engineering, Hokkaido University, Japan; 3Fusion Oriented REsearch for disruptive Science and Technology (FOREST) Program, Japan Science and Technology Agency (JST) Japan, Saitama, Japan In vitro 3D model of mitochondrial myopathy human skeletal muscle 1Wellcome Centre for Mitochondrial Research, Medical School, Newcastle University, United Kingdom; 2Translational and Clinical Research Institute, Newcastle University, United Kingdom; 3Institute for Bioengineering of Catalonia, The Barcelona Institute of Science and Technology, Barcelona, Spain; 4NHS Highly Specialised Service for Rare Mitochondrial Disorders, Royal Victoria Infirmary Metabolic consequences for NAD+ and N- Acetyl cysteine treatment on Mitochondrial myopathy 1STEMM, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland; 2Diabetes and Obesity Research Unit, Research Programs Unit, University of Helsinki, FIN-00290 Helsinki, Finland; 3Laboratory of Integrative Systems Physiology, École polytechnique fédérale de Lausanne, Lausanne, Switzerland; 4Children’s Research Institute, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America; 5Helsinki University Hospital Diagnostic Centre, Helsinki 00260, Finland Silencing the aberrant Coq9 mRNA in the Coq9R239X model normalizes complex Q and restores the mitochondrial phenotype. 1Physiology Department, Biomedical Research Center, University of Granada, Granada, Spain; 2Ibs.Granada, Spain; 3Biofisika Institute (CSIC,UPV-EHU) and Department of Biochemistry and Molecular Biology, University of Basque Country, Leioa, Spain A high-content in vitro screening to identify new mitophagy-activating compounds 1Department of Biomedical Sciences, University of Padova, Italy; 2Department of Medicine, Endocrinology, David Geffen School of Medicine, University of California, Los Angeles, USA; 3Metabolism Theme, David Geffen School of Medicine, University of California, Los Angeles, USA B-RA targets mitochondria in white adipose tissue and reverses diet-induced obesity 1Physiology Department, Biomedical Research Center, University of Granada, Granada, Spain; 2Ibs. Granada, Granada, Spain HIF1α is a potentially druggable target for MNGIE disease Alma Mater Studiorum University of Bologna, Italy Mitochondrial modulation with Leriglitazone as a potential treatment for Rett syndrome Institut de Recerca Sant Joan de Déu, Spain New nutritional therapies for mitochondrial diseases 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 Genética, Hospital Universitario ‘12 de Octubre’, Madrid, Spain.; 4Unidad Pediátrica de Enfermedades Raras, Hospital Universitario ‘12 de Octubre’, Madrid, Spain.; 5Servicio de Medicina Interna, Hospital Universitario ‘12 de Octubre’, Madrid, Spain; 6Servicio de Neurología, Hospital Universitario ‘12 de Octubre’, Madrid, Spain; 7Centro Nacional de Referencia para Errores Congénitos del Metabolismo (CSUR) y Centro Europeo de Referencia para Enfermedades Metabólica Hereditarias (MetabERN), Madrid, Spain Pyrroloquinoline quinone exerts neuroprotective effects on retinal ganglion cell degeneration 1Department of Clinical Neuroscience, Division of Eye and Vision, St. Erik Eye Hospital, Karolinska Institutet, Stockholm, Sweden; 2Department of Biology, University of Pisa, Pisa, Italy Quinone compounds in primary mitochondrial disease: acute metabolic effects in human-derived cells in vitro 1Mitochondrial Medicine, Department of Clinical Sciences, Lund University, Lund, Sweden; 2Department of Anesthesiology, Tokyo Medical University, Tokyo 160-0023, Japan; 3Abliva AB, Lund, Sweden A novel therapeutic strategy for mitochondrial Leigh Syndrome 1Department of Hematology and Oncology, Graduate School of Medicine, Osaka University, Osaka, Japan.; 2Luca Science Inc., Tokyo, Japan.; 3Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA.; 4Department of Hematology, Osaka International Cancer Institute, Osaka, Japan. Generation of a new neuronal model of Friedreich’s Ataxia and establishment of a drug screening strategy 1Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS UMR7104, Université de Strasbourg, France; 2Institut NeuroMyoGene, UMR5261, INSERM U1315, Université Claude Bernard Lyon I Faculté de médecine, Lyon, France Downregulation of miR-181a/b ameliorates the Leigh syndrome phenotype in Ndufs4 KO mice 1Telethon Institute of Genetics and Medicine, Telethon Foundation, Pozzuoli (NA), Italy; 2European School of Molecular Medicine (SEMM); 3Institute for Genetic and Biomedical Research (IRGB), National Research Council (CNR), Milan, Italy; 4Ecosustainable Marine Biotechnology Department, Stazione Zoologica Anton Dohrn, Naples, Italy; 5Institute of Biochemistry and Cellular Biology (IBBC), National Research Council (CNR), Monterotondo (RM), Italy; 6Dep. of Precision Medicine, University of Campania "L. Vanvitelli", Caserta, Italy; 7Dep. of Translational Medicine, University of Naples "Federico II", Naples, Italy Succinate does not increase reactive oxygen species generation in phosphorylating human mitochondria 1Mitochondrial Medicine, Department of Clinical Sciences, Lund University, Lund, Sweden; 2Department of Anesthesiology, Tokyo Medical University, Tokyo, Japan; 3Abliva, AB, Lund, Sweden; 4Otorhinolaryngology Head and Neck Surgery, Department of Clinical Sciences, Lund University, Skåne University Hospital, Lund, Sweden Disease modeling and drug screening of mitochondrial complex I disorders: From Podospora anserina to Human 1MITOVASC Institute, CNRS UMR 6015 INSERM U1083, Angers University - Angers (France); 2Pharmacology laboratory UR7296, Strasbourg University - Strasbourg (France); 3Côte d'Azur University, CNRS, Institute of Chemistry- Nice (France); 4IRCAN, UMR 7284 INSERM U1081/UCA - Nice (France); 5IBGC Institute, CNRS UMR 5095 - Bordeaux (France); 6Institute for Integrative Biology of the Cell I2BC, UMR9198, University of Paris-Saclay - Paris (France) Nifuroxazide rescues deleterious effects of MICOS disassembly in disease models 1IRCAN, UMR 7284/INSERM U1081/UCA, Nice, France; 2Université Côte d’Azur, Centre Commun de Microscopie Appliquée, Nice, France; 3Université Côte d’Azur, Inserm U1065, C3M, Nice, France; 4Université Paris Saclay, CEA, CNRS, I2BC, Gif-sur-Yvette, France; 5Université Côte d’Azur, CNRS UMR 7272, ICN, Nice, France; 6Université Paris Descartes-Sorbonne Paris Cité, Inserm U1163, Imagine Institute, Paris, France; 7IBGC, UMR5095 CNRS, Bordeaux, France; 8CRBS, UR7296, Strasbourg, France; 9Université d'Angers, UMR CNRS 6015 – INSERM U1083, Angers, France Lithospermum erythrorhizon complexs extract prevents dexamethasone-induced muscle atrophy in mice Korea Food Research Institute, Korea, Republic of (South Korea) Myocardial regeneration therapy using human cardiosphere-derived cells with activated mitochondria 1Department of Pediatrics, Graduate School of Medicine, Hokkaido University, Sapporo, Japan; 2Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan; 3Faculty of Engineering, Hokkaido University, Sapporo, Japan; 4Fusion Oriented REsearch for disruptive Science and Technology (FOREST) Program, Japan Science and Technology Agency (JST) Japan, Saitama, Japan Quinone compounds in primary mitochondrial disease: in vitro characterization of NQO1-mediated NAD+/NADH modulation 1Mitochondrial Medicine, Department of Clinical Sciences, Lund University, Lund, Sweden; 2Isomerase Therapeutics Ltd, Chesterford Research Park, Cambridge, UK; 3Abliva AB, Lund, Sweden Metformin in mitochondrial disease patients cardiac cells University of Eastern Finland, Finland Mavodelpar clinical development program in adult patients with primary mitochondrial myopathy (PMM): results from Phase 1b study and design of ongoing pivotal study (STRIDE). 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; 3Wellcome Centre for Mitochondrial Research, Newcastle University, UK; 4NIHR Newcastle Biomedical Research Centre, Newcastle University, UK; 5Paramstat Ltd., UK; 6Reneo Pharma Ltd., UK; 7Reneo Pharmaceuticals Inc., USA; 8Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy; 9Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA Rationale and design of a clinical phase 2a study to evaluate the safety and efficiency of OMT-28 in primary mitochondrial disease 1OMEICOS Therapeutics GmbH, Germany; 2University of Alberta, Canada; 3Max-Delbrueck Center for Molecular Medicine, Germany Treatment with lenadogene nolparvovec gene therapy results in sustained visual improvement in m.11778G>A MT-ND4-LHON patients: the RESTORE study 1Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; 2Departments of Ophthalmology, Neurology and Neurological Surgery, Emory University School of Medicine, Atlanta, GA, USA; 3IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 4Departments of Neurology and Ophthalmology, Wills Eye Hospital and Thomas Jefferson University, Philadelphia, PA, USA; 5Department of Neuro Ophthalmology and Emergencies, Rothschild Foundation Hospital, Paris, France; 6Department of Neurology, Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilians-University Munich, Munich, Germany; 7Doheny Eye Institute, UCLA School of Medicine, Los Angeles, CA, USA; 8GenSight Biologics, Paris, France; 9Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France Current status of the phase 3 trial of dichloroacetate (DCA) for pyruvate dehydrogenase complex deficiency (PDCD) 1University of Florida, United States of America; 2Saol Therapeutics, United States of America Efficacy and safety of elamipretide in subjects with primary mitochondrial disease resulting from pathogenic nuclear DNA mutations (nPMD): phase 3 study design 1Massachusetts General Hospital, Harvard Medical School Boston, MA, United States of America; 2Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy Long-term efficacy of idebenone in patients with LHON in the LEROS study: Analyzing change in visual acuity categories according to mitochondrial DNA mutation and disease phase 1John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom; 2Cambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; 3Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom; 4Institute of Ophthalmology, University College London, London, United Kingdom; 5IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 6Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 7Department of Ophthalmology, Medical University of Vienna, Vienna, Austria; 8The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom; 9Chiesi Farmaceutici S.p.A., Parma, Italy; 10German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; 11Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; 12Department of Neurology, Friedrich‑Baur Institute, University Hospital of the Ludwig-Maximilians-University (LMU), Munich, Germany Long-term efficacy of idebenone in patients with LHON in the LEROS study: Analyzing change in visual acuity over time according to mitochondrial DNA mutation and disease phase 1Department of Ophthalmology, Medical University of Vienna, Vienna, Austria; 2John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom; 3Cambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; 4Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom; 5Institute of Ophthalmology, University College London, London, United Kingdom; 6IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 7Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 8The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom; 9Chiesi Farmaceutici S.p.A., Parma, Italy; 10German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; 11Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; 12Department of Neurology, Friedrich‑Baur Institute, University Hospital of the Ludwig-Maximilians-University (LMU), Munich, Germany Long-term efficacy of idebenone in patients with LHON in the LEROS study: Analyzing the impact of idebenone on rates of recovery and worsening of vision according to primary mitochondrial DNA mutation 1Moorfields Eye Hospital NHS Foundation Trust, United Kingdom; 2Institute of Ophthalmology, University College London, London, United Kingdom; 3The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom; 4John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom; 5Cambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; 6Department of Ophthalmology, Medical University of Vienna, Vienna, Austria; 7IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 8Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 9Chiesi Farmaceutici S.p.A., Parma, Italy; 10German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; 11Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; 12Department of Neurology, Friedrich‑Baur Institute, University Hospital of the Ludwig-Maximilians-University (LMU), Munich, Germany Enzyme replacement strategy by transplantation in MNGIE: lessons from the updated Bologna case series 1IRCCS Istituto Scienze Neurologiche di Bologna, Italy; 2IRCCS Policlinico Sant’Orsola-Malpighi di Bologna, Bologna, Italy; 3Department of Clinical and experimental Medicine, University of Messina, Messina, Italy; 4Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena; 5Institute of Neurology, University of Verona, Verona, Italy; 6Center for Neuromuscular Diseases, Unit of Neurology, ASST "Spedali Civili", Brescia, Italy; 7Department of Medico-Surgical Sciences and Biotechnologies, University ‘La Sapienza’, Roma, Italy; 8Department of Morphology, Surgery and Experimental Medicine, St. Anna Hospital, University of Ferrara, Ferrara, Italy Developing mouse models to investigate the molecular mechanisms of POLG-related diseases 1Venetian Institute of Molecular Medicine, Padova; 2Department of Neuroscience, University of Padova; 3Department of Biomedical Sciences, University of Padova; 4Dept. Medical Chemistry & Cell Biology, Institute of Biomedicine, University of Gothenburg, Gothenburg; 5Mitochondrial Biology Unit, MRC/University of Cambridge, Cambridge, UK Long-term efficacy of idebenone in patients with LHON in the LEROS study: Analyzing the impact of idebenone on rates of recovery and worsening of vision according to disease phase 1Chiesi Farmaceutici S.p.A., Parma, Italy; 2John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom; 3Cambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; 4Moorfields Eye Hospital NHS Foundation Trust, United Kingdom; 5Institute of Ophthalmology, University College London, London, United Kingdom; 6IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 7Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 8Department of Ophthalmology, Medical University of Vienna, Vienna, Austria; 9The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom; 10German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; 11Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; 12Department of Neurology, Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-University (LMU), Munich, Germany Validation of drug delivery and functional activation to mitochondria in skeletal muscle cell 1Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan; 2Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan; 3Faculty of Engineering, Hokkaido University, Sapporo, Japan; 4Fusion Oriented research for disruptive Science and Technology (FOREST) Program, Japan Science and Technology Agency (JST) Japan, Saitama, Japan Novel approaches to modulate mutant mitochondrial DNA in patient-derived induced-pluripotent stem cells 1Department of Pharmacology and Toxicology, University of Toronto, Toronto, Canada; 2Department of Molecular Genetics, University of Toronto, Toronto, Canada; 3Department of Psychiatry, University of Toronto, Toronto, ON, Canada Evaluation of mtDNA copy number assessment in patients with suspected mitochondrial disease 1NHS Highly Specialised Services for Rare Mitochondrial Disorders, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; 2Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; 3Department of Neurology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; 4Department of Neurology, Gregorio Marañón University Hospital, Madrid, Spain; 5Nuffield Department of Women’s & Reproductive Health, University of Oxford, Oxford, UK Hepatoencephalopathy due to GFM1 mutations: generation of a mouse model and preclinical study of an AAV-based gene therapy for the disease 1Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona - Barcelona (Spain); 2Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III - Madrid (Spain); 3Pathology Department, Vall d'Hebron Research Institute, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona - Barcelona (Spain); 4Programa de Terapia Génica y Regulación de la Expresión Génica, Centro de Investigación Médica Aplicada (CIMA), Universidad de Navarra - Pamplona (Spain); 5Instituto de Investigación Sanitaria de Navarra, IdiSNA - Pamplona (Spain) Neuroglobin overexpression in cerebellar neurons of Harlequin mice improves mitochondrial homeostasis and reduces ataxic behavior 1Université Paris Cité, NeuroDiderot, Inserm, F-75019 Paris, France; 2Neonatal Research Group, Health Research Institute La Fe, 46026 Valencia, Spain; 3Laboratory of Comparative Neurobiology, Cavanilles Institute of Biodiversity and Evolutionary Biology, University of Valencia, Valencia, Spain; 4Université Paris Cité, Platform of Cellular and Molecular Imaging, US25 Inserm, UAR3612 CNRS, 75006 Paris, France; 5Université de Paris, UMR-S 1144 Inserm, 75006 Paris, France Guanylate kinase 1 deficiency: a novel and potentially treatable form of mitochondrial DNA depletion/deletions syndrome 1Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA; 2Seattle Children’s Hospital, Seattle, WA, USA; 3Section of Inborn Errors of Metabolism-IBC. Department of Biochemistry and Molecular Genetics. Hospital Clinic de Barcelona-IDIBAPS, Barcelona.; 4Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona; 5Muscle Research and Mitochondrial Function Lab, Cellex - IDIBAPS. Faculty of Medicine and Health Science - University of Barcelona (UB), Barcelona.; 6Department of Internal Medicine, Hospital Clínic of Barcelona.; 7Vall d’Hebron Research Institute, Autonomous University of Barcelona, Barcelona, Spain.; 8Department of Genome Sciences, University of Washington, Seattle, WA, U.S.A. Mechanisms of mtDNA maintenance and segregation in the female germline 1Karolinska Institutet, Stockholm, Sweden; 2MRC Mitochondrial Biology Unit, Cambridge, United Kingdom; 3Department of Clinical Neurosciences, University of Cambridge, United Kingdom Processing of mitochondrial RNA in health and disease: the role of FASTKD5. 1The Neuro & McGill University, Montreal, Quebec, Canada; 2Dell School of Medicine, University of Texas at Austin, Austin, TX, USA The human Mitochondrial mRNA Structurome reveals Mechanisms of Gene Expression in Physiology and Pathology 1University of Miami, United States of America; 2Harvard Medical School, United States of America Host-microbiome co-adaptation to severe nutritional challenge 1Department of Biomolecular Sciences, Weizmann Institute of Science, Israel; 2Life Sciences Core Facilities, Weizmann Institute of Science, Israel The heme exporter FLVCR1a regulates ER-mitochondria membranes tethering and mitochondrial calcium handling 1University of Turin, Department of Molecular Biotechnology and Health Sciences; 2Department of Pediatrics, University of California San Francisco, San Francisco, United States; 3Department of Medical Sciences, Section of Experimental Medicine, Laboratory for Technologies of Advanced Therapies, University of Ferrara, Ferrara, Italy; 4Université de Paris, NeuroDiderot, Inserm, 75019 Paris, France; 5Instituto de Ciencias de la Salud, Universidad de O'Higgins, Rancagua, Chile; 6Leibniz Institute of Analytical Sciences, ISAS, Dortmund, Germany; 7Department of Oncology, University of Torino, Italy; 8Department of Pediatric Neurology, Developmental Neurology, and Social Pediatrics, Center for Neuromuscular Disorders in Children and Adolescents, University of Duisburg-Essen, Essen, Germany Genetic variants impact on NQO1 expression and activity driving efficacy of idebenone treatment in Leber’s hereditary optic neuropathy cell models 1Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 2IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; 3Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; 4Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy. Peptide mimetic molecules as potential therapeutic agents against diseases related to mt-tRNA point mutations. 1Department of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, Italy; 2Department of Biochemical Sciences "A. Rossi Fanelli, Sapienza University of Rome, Italy; 3Institute of Molecular Biology and Pathology (IBPM), National Research Council (CNR) of Italy The mitoDdCBE system as a mitochondrial gene therapy approach 1University of Miami, United States of America; 2Max Planck Institute of Biochemistry, Germany; 3Broad Institute, Harvard University, and HHMI, United States of America Niacin treatment improves metabolic changes in early-stage mitochondrial myopathy 1Research Program for Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 2Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 3Department of Neurosciences, Helsinki University Hospital, Helsinki, Finland; 4Department of Clinical Physiology and Nuclear Medicine, Laboratory of Clinical Physiology, Helsinki University Hospital, Helsinki, Finland; 5HUS Diagnostic Center, Radiology, Helsinki University and Helsinki University Hospital, Helsinki, Finland; 6Children’s Research Institute, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America; 7Obesity Research Unit, Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 8Healthy Weight Hub, Abdominal Center, Endocrinology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland; 9Helsinki University Hospital Diagnostic Centre, Helsinki, Finland PHEMI: Phenylbutyrate Therapy in Mitochondrial Diseases with lactic acidosis: an open label clinical trial in MELAS and PDH deficiency patients. 1Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Experimental Neuroscience, Unit of Medical Genetics and Neurogenetics, Milan, Italy; 2Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Pediatric Neurosciences, Milan, Italy; 3Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy Use of lenadogene nolparvovec gene therapy for Leber hereditary optic neuropathy in early access programs 1IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 2Department of Neuro Ophthalmology and Emergencies, Rothschild Foundation Hospital, Paris, France; 3Centre Hospitalier National d’Ophtalmologie des Quinze Vingts, Paris, France; 4Departments of Neurology and Ophthalmology, Wills Eye Hospital and Thomas Jefferson University, Philadelphia, PA, USA; 5Department of Ophthalmology, Neurology, and Pediatrics, Vanderbilt University, and Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN, USA; 6Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; 7Institut de Génétique Médicale d’Alsace, CHU de Strasbourg, Strasbourg, France; 8Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilians-University, Munich, Germany; 9University Hospital, Ludwig-Maximilians-University, Munich, Germany; 10Service Explorations de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France; 11Service d'Ophtalmologie, CHU de Rennes, Rennes, France; 12Service d'Ophtalmologie, CHU de Bordeaux, Groupe Hospitalier Pellegrin, Bordeaux, France; 13Service d'Ophtalmologie, CHU de Nantes, Nantes, France; 14Service de Neuro-Cognition et Neuro-Ophtalmologie, CHU de Lyon, Lyon, France; 15Service d'Ophtalmologie, Centre Hospitalier de Valence, Valence, France; 16Service d'Ophtalmologie, CHU de Caen, Caen, France; 17Department of Ophthalmology, Blanton Eye Institute, Houston Methodist Hospital, Houston, Texas, USA; 18Retina Consultants, P.C, Hartford, Connecticut, USA; 19Service d'Ophtalmologie, Hôpital Ophtalmique Jules-Gonin, Lausanne, Switzerland; 20Centre Hospitalier de Wallonie Picarde, Tournai, Belgium; 21GenSight Biologics, Paris, France; 22Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; 23Department of Biomedical and Neuromotor Sciences, DIBINEM, Bologna, Italy MitoCRISPR/Cas9 shifts mtDNA heteroplasmy not as effective as other site-specific nucleases. 1Novosibirsk State University, Novosibirsk, Russia; 2Institute of Cytology and Genetics SB RAS, Novosibirsk, Russia; 3Skolkovo Institute of Science and Technology, Moscow, Russia Prenatal diagnostics for a family with 13513G>A mtDNA mutation associated with Leigh Syndrome 1Center for Embryonic Cell and Gene Therapy, Oregon Health and Science University, United States of America; 2Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology, Oregon Health and Science University, United States of America Specific elimination of m.3243A>G mutant mitochondria DNA using mitoARCUS 1Precision BioSciences - Durham, NC, United States of America; 2University of Miami - Miami, FL, United States of America Identification of autophagy as a functional target suitable for the pharmacological treatment of MPAN in vitro 1Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; 2Protein Expression and Purification Facility, Institute of Structural Biology, Molecular Targets and Therapeutics Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany; 3Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy; 4Institute of Structural Biology, Molecular Targets and Therapeutics Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany; 5Bavarian NMR Centre, Department of Bioscience, School of Natural Sciences, Technical University of Munich, 85747 Garching, Germany; 6Molecular Cell Biology Section, Department of Biomedical Sciences of Cells & Systems, University of Groningen, University Medical Center Groningen, 9713 AV Groningen, The Netherlands; 7Expertise Center Movement Disorders Groningen, University Medical Center Groningen, 9713 AV Groningen, The Netherlands; 8Department of Neurology and Epileptology, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland; 9Alembic, Experimental Imaging Center, IRCCS San Raffaele Hospital, 20132 Milan, Italy; 10Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-University (LMU), 80336 Munich, Germany; 11Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany; 12German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany; 13Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, 81675 Munich, Germany PPAR Gamma Agonist Pioglitazone restores Mitochondrial Quality Control in fibroblasts of PITRM1 deficient patients 1Fondazione IRCCS Istituto Neurologico Carlo Besta, Italy; 2Department of Biology, University of Padua, Italy; 3Department of Clinical Medicine, University of Bergen, Norway; 4Shaare Zedek Medical Center, The Hebrew University of Jerusalem, Israel; 5Molecular Medicine, IRCCS Fondazione Stella Maris, Italy; 6Department of Biomedical Sciences, University of Padova, Italy; 7Department of Neurosciences, University of Padova, Italy Mitochondrial derived vesicles retain membrane potential and contain a functional ATP synthase 1Hebrew university, Israel; 2Technion, Haifa, Israel; 3Weizmann Institute of Science, Rehovot, Israel; 4Kimron Veterinary Institute, Bet Dagan, Israel; 5Hadassah Medical Center and Faculty of Medicine, Hebrew University, Jerusalem Israel Metabolic modulation of mitochondrial DNA release in cellular models of Parkin-associated Parkinson’s disease 1Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg; 2Institute of Neurogenetics, University of Lübeck, Lübeck, Germany ATP synthase c-subunit leak metabolism associated with abnormal mitophagic clearance 1University College London, United Kingdom; 2Yale University , USA Investigating the role of mitochondrial regulators in sorafenib and lenvatinib resistance in HCC cell line 1Department of Pharmacological and Biomolecular Sciences - DiSFeB, University of Milan, Italy; 2Department of Experimental Oncology, IEO, European Institute of Oncology IRCCS, Milan, Italy Glucose-derived glutamate drives neuronal differentiation 1Department of Pharmacological and Biomolecular Sciences -DiSFeB, Università degli Studi di Milano, Milan, Italy; 2Department of Medical Biotechnology and Translational Medicine - BIOMETRA, Università degli Studi di Milano, Milan, Italy; 3Institute of Neuroscience, IN-CNR, Milan, Italy; 4Department of Molecular and Cellular Biology, University of Geneva, Geneva, Switzerland; 5Department of Experimental Oncology, IEO, European Institute of Oncology IRCCS, Milan, Italy. |
4:15pm - 6:15pm | Patients' session Location: Bologna Congress Center - Sala Europa Chairs: Kira Mann, Paula Morandi 16:15 – 16:35 Mitochondrial Diseases in childhood: hope for the future – Robert McFarland 16:35 – 16:55 Advances in clinical diagnosis and management of mitochondrial disorders, Holger Prokish 16:55 – 17:15 New therapies for mitochondrial diseases – an update, Carlo Viscomi 17:15 – 17:35 Gene therapy for mitochondrial optic neuropathies – an update, Patrick Yu Wai Man 17:35 – 18:05 Ask the Mito Doc. Discussion with patients and experts 18:05 – 18:15 Q&A |
8:00pm - 10:00pm | Conference Dinner Location: Palazzo Re Enzo |
Date: Thursday, 15/June/2023 | |
8:00am - 5:30pm | Registration Desk Location: Bologna Congress Center |
9:00am - 10:40am | Session 5.1: Late breaking news session Location: Bologna Congress Center - Sala Europa Session Chair: Valeria Tiranti Session Chair: Valerio Carelli |
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Oral presentation
Improving the diagnosis of mitochondrial disease with public funding for whole genome sequencing Neuroscience Research Australia Oral presentation
SLC25A38 is Necessary for Mitochondrial Pyridoxal 5’-Phosphate (PLP) Accumulation 1Picower Institute for Learning and Memory, MIT, Cambridge, MA, USA; 2Department of Brain and Cognitive Sciences, MIT, Cambridge, MA, USA; 3David H. Koch Institute for Integrative Cancer Research, MIT, Cambridge, MA, USA; 4Department of Biology, MIT, Cambridge, MA, USA; 5Harvard-MIT MD/PhD Program, Boston, MA, USA; 6Whitehead Institute for Biomedical Research, Cambridge, MA, USA; 7Cancer Research, Massachusetts General Hospital, Boston MA, USA; 8Cutaneous Biology Research Center, Massachusetts General Hospital Department of Dermatology, Harvard Medical School, Boston, MA; 9Unafilliated; 10Harvard T.H. Chan School of Public Health, Boston, MA, USA; 11Dana-Farber Cancer Institute, Boston, MA, USA Oral presentation
The transcriptional effects of thyroid hormone T3 on mitochondrial metabolism during neurodevelopment 1Section of Pharmacology, Department of Diagnostics and Public Health, University of Verona, Verona, Italy; 2Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy; 3Department of Surgery, Dentistry, Paediatrics and Gynaecology, University of Verona, Verona, Italy Oral presentation
Transplanting ipsc-derived mitochondria: a promising approach for treating mitochondrial optic neuropathies Institute of Molecular and Cell Biology, A*STAR Research Entities, Singapore 138673, Singapore Flash Talk
The heme exporter FLVCR1a regulates ER-mitochondria membranes tethering and mitochondrial calcium handling 1University of Turin, Department of Molecular Biotechnology and Health Sciences; 2Department of Pediatrics, University of California San Francisco, San Francisco, United States; 3Department of Medical Sciences, Section of Experimental Medicine, Laboratory for Technologies of Advanced Therapies, University of Ferrara, Ferrara, Italy; 4Université de Paris, NeuroDiderot, Inserm, 75019 Paris, France; 5Instituto de Ciencias de la Salud, Universidad de O'Higgins, Rancagua, Chile; 6Leibniz Institute of Analytical Sciences, ISAS, Dortmund, Germany; 7Department of Oncology, University of Torino, Italy; 8Department of Pediatric Neurology, Developmental Neurology, and Social Pediatrics, Center for Neuromuscular Disorders in Children and Adolescents, University of Duisburg-Essen, Essen, Germany Flash Talk
Host-microbiome co-adaptation to severe nutritional challenge 1Department of Biomolecular Sciences, Weizmann Institute of Science, Israel; 2Life Sciences Core Facilities, Weizmann Institute of Science, Israel Flash Talk
Identification of autophagy as a functional target suitable for the pharmacological treatment of MPAN in vitro 1Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; 2Protein Expression and Purification Facility, Institute of Structural Biology, Molecular Targets and Therapeutics Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany; 3Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy; 4Institute of Structural Biology, Molecular Targets and Therapeutics Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany; 5Bavarian NMR Centre, Department of Bioscience, School of Natural Sciences, Technical University of Munich, 85747 Garching, Germany; 6Molecular Cell Biology Section, Department of Biomedical Sciences of Cells & Systems, University of Groningen, University Medical Center Groningen, 9713 AV Groningen, The Netherlands; 7Expertise Center Movement Disorders Groningen, University Medical Center Groningen, 9713 AV Groningen, The Netherlands; 8Department of Neurology and Epileptology, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland; 9Alembic, Experimental Imaging Center, IRCCS San Raffaele Hospital, 20132 Milan, Italy; 10Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-University (LMU), 80336 Munich, Germany; 11Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany; 12German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany; 13Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, 81675 Munich, Germany Remote connection - Oral Presentation
Nuclear genetic control of mtDNA homeostasis revealed from >250,000 human genomes Broad Institute; Mass Gen Hospital, Harvard Medical School |
10:40am - 10:55am | Coffee Break Location: Bologna Congress Center |
10:55am - 12:10pm | Keynote Lectures: Carlos Moraes - Thomas Becker Location: Bologna Congress Center - Sala Europa Session Chair: Luigi Palmieri Session Chair: Nils-Göran Larsson |
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Invited
Promises and Perils of mitochondrial DNA Gene Editing 1University of Miami, United States of America; 2Precision Biosciences, United States of America Invited
Control of mitochondrial protein import University of Bonn, Germany |
12:10pm - 12:50pm | Closing Lecture: Anu Suomalainen Location: Bologna Congress Center - Sala Europa |
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Invited
Quo vadis, mitochondrial medicine Helsinki-Finland |
12:50pm - 1:00pm | Announcement of Award Winners Location: Bologna Congress Center - Sala Europa |
1:00pm - 1:10pm | Presentation of the next Euromit Conference Location: Bologna Congress Center - Sala Europa |
1:30pm - 2:30pm | Lunch Location: Bologna Congress Center - Sala Europa |
2:30pm - 6:00pm | Satellite Symposium: Mitochondrial optic neuropathies, the tip of the mito-iceberg Location: Bologna Congress Center - Sala Europa To see the full programme of this Meeting, visit our website on this page. |