Session | ||
Tea Break and poster session
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 | ||
Presentations | ||
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 |