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: 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 |