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 |
Registration Desk Location: Bologna Congress Center |
9:00am - 10:45am |
Session 2.1: mtDNA maintenance and expression Location: Bologna Congress Center - Sala Europa Chair: Zofia Chrzanowska-Lightowers Chair: Massimo Zeviani Invited Speakers:
M. Falkemberg; A. Filipovska
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 1: Karolinska Institutet, Stockholm, Sweden; 2: University of Pennsylvania, Pennsylvania, USA; 3: Max-Planck-Institute for Biology of Ageing, Cologne, Germany Oral presentation Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability 1: Department of Medical Biochemistry and Cell Biology, University of Gothenburg, P.O. Box 440, SE-405 30 Gothenburg, Sweden; 2: Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; 3: Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; 4: Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; 5: The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; 6: North East and Yorkshire Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, UK; 7: Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK; 8: Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; 9: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK; 10: Nuffield Department of Women’s & Reproductive Health, The Women's Centre, University of Oxford, Oxford, UK; 11: Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK; 12: Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil; 13: Department of Internal Medicine, Universidade Federal do Rio Grande do Sul - Porto Alegre, Brazil; 14: Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul - Porto Alegre, Brazil; 15: Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC 27101, USA; 16: Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA; 17: The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel; 18: The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Israel; 19: The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; 20: Genomics Unit, The Center for Cancer Research, Sheba Medical Center, Israel; 21: Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel; 22: Department 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. 1: The Neuro & McGill University, Montreal, Quebec, Canada; 2: Dell School of Medicine, University of Texas at Austin, Austin, TX, USA Flash Talk Mechanisms of mtDNA maintenance and segregation in the female germline 1: Karolinska Institutet, Stockholm, Sweden; 2: MRC Mitochondrial Biology Unit, Cambridge, United Kingdom; 3: Department of Clinical Neurosciences, University of Cambridge, United Kingdom Flash Talk The human Mitochondrial mRNA Structurome reveals Mechanisms of Gene Expression in Physiology and Pathology 1: University of Miami, United States of America; 2: Harvard Medical School, United States of America |
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10:45am - 11:00am |
Coffee Break Location: Bologna Congress Center |
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11:00am - 12:45pm |
Session 2.2: Clinical 1: from new genes to old and novel phenotypes Location: Bologna Congress Center - Sala Europa Chair: Agnes Rotig Chair: Daniele Ghezzi Invited Speakers: R. Horvath; H. Prokisch
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 1: Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK; 2: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK; 3: Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK; 4: Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; 5: Department of Neurosciences, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; 6: Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; 7: National Institute for Health and Care Research Great Ormond Street Hospital Biomedical Research Centre, London, UK; 8: Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK; 9: Genomics England, One Canada Square London, UK Oral presentation Biallelic variants in MCAT in an infant with lactic acidosis, lipoylation disorder, and early death 1: University Children's Hospital, Paracelsus Medical University, Salzburg, Austria; 2: Institute of Human Genetics, University Medical Center Eppendorf, Hamburg, Germany; 3: Current address: Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany; 4: Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany; 5: Amalia Children’s Hospital, Radboudumc, Nijmegen, The Netherlands. Oral presentation Biallelic PTPMT1 variants impair cardiolipin metabolism and cause mitochondrial myopathy and developmental regression 1: Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK; 2: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK; 3: Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge UK; 4: Izmir International Biomedicine and Genome Institute, Dokuz Eylül University, Izmir, Turkey; 5: Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; 6: Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK; 7: Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK; 8: Neurometabolic Unit, The National Hospital for Neurology and Neurosurgery, London, UK; 9: Wellcome 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; 10: Genomics England, London, UK; 11: Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey; 12: Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt; 13: Department of Inherited Metabolic Disease, Division of Women's and Children's Services, University Hospitals Bristol NHS Foundation Trust, Bristol, UK; 14: Izmir Biomedicine and Genome Center, Izmir, Turkey; 15: Department 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 1: IRCCS - Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica - Bologna (Italy); 2: Studio Oculistico d'Azeglio - Bologna (Italy); 3: Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele - Milano (Italy); 4: Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM) - Madrid (Spain); 5: Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII - Madrid (Spain); 6: Grupo 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); 7: Université d’Angers, MitoLab team, UMR CNRS 6015 - INSERM U1083, Unité MitoVasc - Angers (France); 8: Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University - Paris (France); 9: Departments of Biochemistry and Genetics, University Hospital Angers - Angers (France); 10: Molecular Genetics Laboratory, Institute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany; 11: Depart. 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? 1: Human Metabolomics, North-West University, Potchefstroom, South Africa; 2: Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa; 3: Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; 4: Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; 5: https://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 1: Fondazione IRCCS Istituto Neurologico Besta, Italy; 2: Vall d'Hebron Research Institute, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Autonomous University of Barcelona, Barcelona, Spain; 3: Centro Sclerosi Multipla, P.O. Binaghi, ASL Cagliari, Italy; 4: Technical University of Munich, School of Medicine, Institute of Human Genetics, 81675 Munich, Germany; 5: Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany; 6: Department 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 1: Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA; 2: Seattle Children’s Hospital, Seattle, WA, USA; 3: Section of Inborn Errors of Metabolism-IBC. Department of Biochemistry and Molecular Genetics. Hospital Clinic de Barcelona-IDIBAPS, Barcelona.; 4: Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona; 5: Muscle Research and Mitochondrial Function Lab, Cellex - IDIBAPS. Faculty of Medicine and Health Science - University of Barcelona (UB), Barcelona.; 6: Department of Internal Medicine, Hospital Clínic of Barcelona.; 7: Vall d’Hebron Research Institute, Autonomous University of Barcelona, Barcelona, Spain.; 8: Department of Genome Sciences, University of Washington, Seattle, WA, U.S.A. |
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12:45pm - 1:45pm |
Lunch Location: Bologna Congress Center - Sala Europa |
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1:45pm - 3:30pm |
Session 2.3: Modelling pathogenic mechanisms: OXPHOS, metabolic rewiring and tissue specificity Location: Bologna Congress Center - Sala Europa Chair: Cristina Ugalde Chair: Giovanni Manfredi Invited Speaker: E. Fernandez-Vizarra; A. Prigione
Metabolic adaptations of respiratory chain organization and function 1: Department of Biomedical Sciences, University of Padova, Italy; 2: Veneto 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 1: Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; 2: Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; 3: Biosciences 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. 1: Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY; 2: Weill Cornell Medicine, Department of Pharmacology, New York, NY; 3: Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy; Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy; 4: IRCCS, 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 1: STEMM, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland; 2: Department of Pharmacology and Cancer Biology, Duke University School of Medicine, Durham, NC, USA; 3: Buck Institute for Research on Aging, Novato, CA 94945, USA; 4: Gladstone Institutes and University of California, San Francisco, CA 94158, USA; 5: Department of Physics, University of Helsinki, Finland; 6: HiLIFE Institute of Biotechnology, University of Helsinki, Finland; 7: Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark; 8: Unit of Cellular Biology and Mitochondrial Diseases, “Bambino Gesù” Children's Hospital, IRCCS, Rome, Italy; 9: Program in Genetics and Genome Biology, The Hospital for Sick Children, Institute of Medical Science University of Toronto, Toronto, Ontario, Canada; 10: Division 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 1: Instituto de Investigación Hospital 12 de Octubre, Madrid 28041, Spain; 2: Department of Biomedical Sciences, University of Padova, 35131 Padova, Italy; 3: Centro 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 1: Department of Biochemistry and Pharmacology and the Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, 3010, Australia; 2: Queensland Children’s Hospital, Department of Metabolic Medicine, South Brisbane, Brisbane, Queensland, 4001, Australia; 3: Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Victoria, 3052, Australia; 4: Department of Paediatrics, University of Melbourne, Melbourne, Victoria, 3052, Australia; 5: Victorian Clinical Genetics Services, Royal Children’s Hospital, Melbourne, Victoria, 3052, Australia Flash Talk Microproteins in metabolic regulation 1: Duke-NUS Medical School, Singapore; 2: University of Melbourne, Australia; 3: University of Utah, USA; 4: University of Southampton, UK |
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3:30pm - 3:50pm |
Industry Workshop: Abliva AB Location: Bologna Congress Center - Sala Europa |
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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 Recessive MECR pathogenic variants cause a LHON-like optic neuropathy 1: IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy; 2: Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy; 3: Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele, Milan, Italy; 4: Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Italy Variants in ATP5F1B are associated with dominantly inherited dystonia 1: Fondazione IRCCS Istituto Neurologico Besta, Milan, Italy; 2: Northwestern University, Feinberg School of Medicine, Chicago, USA; 3: Helmholtz Zentrum München, Technical University of Munich, Munich, Germany; 4: Università di Milano, Milan, Italy Toward clinical implementation of quantitative proteomics in the detection of mitochondrial disorders 1: University of Melbourne, Parkville, Australia; 2: Victoria University, Footscray, Australia; 3: Murdoch Children’s Research Institute, Melbourne, Australia; 4: Victorian Clinical Genetics Services, Melbourne, Australia; 5: National Metabolic Service Auckland City Hospital, Auckland, New Zealand; 6: Starship Children's Hospital, Auckland, New Zealand; 7: University of Colorado, Aurora, United States of America; 8: Centre for Population Genomics, Melbourne, Australia; 9: Garvan Institute of Medical Research, Sydney, Australia A DNM2-related myopathy mimicking a primary mitochondrial disorder 1: Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; 2: Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; 3: Unit 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 1: Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA; 2: Illumina Laboratory Services, Illumina Inc., San Diego, CA; 3: Center for Personalized Medicine, Department of Pathology & Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA; 4: Keck School of Medicine, University of Southern California, Los Angeles, CA; 5: Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; 6: Genetics 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 1: University of Melbourne, Parkville, Australia; 2: Victoria University, Footscray, Australia; 3: Murdoch Children’s Research Institute, Melbourne, Australia; 4: Victorian Clinical Genetics Services, Melbourne, Australia; 5: Australian Genomics, Melbourne, Australia COX18 variants cause isolated Complex IV deficiency associated with neonatal hypertrophic cardiomyopathy, myopathy and axonal sensory neuropathy 1: Dino Ferrari Center, University of Milan, Italy; 2: IRCCS Cà Granda Ospedale Maggiore Policlinico Milan, Italy; 3: ASST Papa Giovanni XXIII, Bergamo, Italy Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 1: Muscular and Neurodegenerative Disorders Unit, Children Hospital Bambino Gesù; 2: Cellular biology and mitochondrial diseases diagnostics, Children Hospital Bambino Gesù; 3: Department of Chemistry Life Sciences and Environmental Sustainability, University of Parma; 4: Metabolism Division, Children Hospital Bambino Gesù, Rome; 5: Molecular Medicine, IRCCS Stella Maris, Pisa Bi-allelic TEFM variants are associated with a treatable mitochondrial myopathy 1: Unit of Cellular Biology and Diagnosis of Mitochondrial Disease, Bambino Gesù Children’s Hospital, IRCCS, Rome Italy.; 2: Dipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; 3: Dipartimento Di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy. TOMM40L as a new causative gene for autosomal recessive mitochondrial disease. 1: Laboratorio de Enfermedades Mitocondriales. Instituto de Investigación Hospital 12 de Octubre (i+12), E-28041 Madrid, Spain.; 2: Unidad Pediátrica de Enfermedades Raras, Enfermedades Mitocondriales y Metabólicas Hereditarias, Hospital 12 de Octubre, E-28041, Madrid, Spain.; 3: Centro 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 1: Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy; 2: Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; 3: Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, Germany; 4: Laboratory 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. 1: Hospital Universitario 12 de Octubre, imas12 Research Institute, Madrid, Spain; 2: Spanish Network for Biomedical Research in Rare Diseases (CIBERER); 3: Fundación Galega de Medicina Xenómica, Santiago de Compostela, Spain; 4: Instituto de Investigación Sanitaria, Hospital Universitario FundaciónJiménez Díaz, Madrid, Spain; 5: Research Group on Neuromuscular and Mitochondrial Diseases, Vall d’Hebron Research Institute, Autonomous University of Barcelona, Barcelona; 6: Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia; 7: Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona, Spain.; 8: Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, Sevilla, Spain.; 9: Center 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 1: Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden; 2: Centre of inherited metabolic diseases, Karolinska University Hospital, Stockholm, Sweden; 3: Neuropediatric Unit, Dept of Women’s, and Children's Health, Karolinska Institutet, Stockholm, Sweden; 4: Department 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 1: Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands; 2: Institute of Neurogenomics, Helmholtz Zentrum München, Germany; 3: Institute of Human Genetics, School of Medicine, Technical University Munich, München, Germany.; 4: Department of Pediatrics, Graduate School of Medicine, Gifu University Hospital, Gifu, Japan.; 5: Department of Informatics, Technical University of Munich, Garching, Germany.; 6: Department of Biochemical Genetics, St James's University Hospital, Leeds, UK.; 7: Department of Pediatrics, Sheffield Children's Hospital, Sheffield, UK.; 8: Department of Pediatrics, Shaare Zedek Medical Center, Jerusalem, Israel.; 9: Department of Inborn Errors of Metabolism and Paediatrics, The Institute of Mother and Child, Warsaw, Poland.; 10: Department of Pediatrics, Hannover Medical School, Hannover, Germany.; 11: Research Unit for Molecular Medicine, Aarhus University and Aarhus University Hospital, Aarhus, Denmark.; 12: Center for Inherited Metabolic Disorders, Guy’s & St Thomas’ Hospital NHS Foundation Trust, London, UK.; 13: University Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany.; 14: Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; 15: Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA; 16: Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.; 17: UofL Physicians Novak Center for Children's Health, Louisville, USA.; 18: Nottingham Children’s Hospital, Nottingham University Hospitals NHS Trust, Queen's Medical Centre, Nottingham, UK; 19: Sheffield Teaching Hospitals NHS Trust, University of Sheffield, Sheffield, UK; 20: Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; 21: Clinical Genetics Center, Gifu University Hospital, Gifu, Japan.; 22: Department of Clinical Chemistry, Sheffield Children’s Hospital, Sheffield, UK. The Australian genomics mitochondrial flagship: a national program delivering mitochondrial diagnoses 1: Murdoch Children's Research Institute, Melbourne, Australia; 2: University of Melbourne, Melbourne, Australia; 3: Victorian Clinical Genetics Services, Melbourne,; 4: Sydney Children’s Hospitals Network, Westmead, Australia; 5: Macquarie University, Sydney, Australia; 6: Women’s and Children’s Hospital, Adelaide, Australia; 7: Tasmanian Clinical Genetics Service, Hobart, Australia; 8: Queensland Children’s Hospital, Brisbane, Australia; 9: Wesley Hospital, Brisbane, Australia; 10: Garvan Institute, Sydney, Australia; 11: Royal Melbourne Hospital, Melbourne, Australia; 12: Royal Adelaide Hospital, Adelaide, Australia; 13: John Hunter Hospital, Newcastle, Australia; 14: Harry Perkins Institute of Medical Research, Perth, Australia; 15: Perth Children’s Hospital, Perth, Australia; 16: Yale School of Medicine, New Haven, CT, USA; 17: Royal Perth Hospital, Perth, Australia; 18: Royal Children’s Hospital, Melbourne, Australia; 19: Mito Foundation, Sydney, Australia; 20: Mater Hospital, Brisbane, Australia; 21: Genetic Health Queensland, Brisbane, Australia; 22: Monash University, Melbourne, Australia; 23: Westmead Hospital, Westmead, Australia; 24: Royal 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 1: Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy; 2: Department of Medicine, Surgery, and Health Sciences, University of Trieste, Trieste, Italy; 3: Unit 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. 1: Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta; 2: Department 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 1: IRCCS, Istituto delle Scienze Neurologiche di Bologna, Italy; 2: Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy; 3: Department of Biomedicine, Neuroscience and Advanced Diagnostics, University of Palermo, Italy. Novel KARS1 mutation causes early-onset lethal cardiomyopathy 1: IRCCS Istituto Giannina Gaslini, Genoa; 2: IRCCS Fondazione Stella Maris, Calambrone (PI); 3: IRCCS Ospedale Bambin Gesù, Rome The ER-MITO (Emilia Romagna-Mitochondrial) project: prevalence and genetics of Chronic Progressive External Ophthalmoplegia (CPEO) in an Italian region 1: IRCCS Institute of Neurological Sciences of Bologna, Italy; 2: Department 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) 1: IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy; 2: Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Italy; 3: Ospedale Oftalmico Roma, Rome, Italy; 4: Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele, Milan, Italy Mitochondrial dysfunction in patients with early-onset UFM1-linked encephalopathy 1: National Centre for Mitochondrial Diseases, Nice Teaching Hospital (CHU de Nice), Department of Medical Genetics, Nice, France; 2: Université Côte d'Azur, CHU, Inserm, CNRS, IRCAN, France; 3: APHM, La Timone Hospital, Department of Neuropediatrics, Marseille, France A novel dominant variant in the ISCU gene is associated with mitochondrial myopathy 1: Maria Sklodowska-Curie, Medical Academy in Warsaw, Poland; 2: MedGen Medical Center, Warsaw, Poland; 3: Institute of Psychiatry and Neurology, Warsaw, Poland Expanding the spectrum of clinical presentations associated with COA8 pathogenic 1: IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy; 2: Dino 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. 1: University of Cape Town, Cape Town, South Africa; 2: National Health Laboratory Sevices, South Africa; 3: Red Cross War Memorial Children's Hospital, Cape Town, South Africa; 4: Constantiaberg Mediclinic, Cape Town, South Africa; 5: Grootte Schuur Hospital, Cape Town, South Africa; 6: Neuroscience Institute, University of Cape Town, Cape Town, South Africa; 7: Human Metabolomics, North-West University, Potchefstroom, South Africa Leigh syndrome and Fanconi renotubular syndrome are the main clinical phenotype due to mutations in NDUFAF6 gene. 1: Bambino Gesù Children Hospital, Italy; 2: UCL Queen Square Institute of Neurology; 3: Université Paris Descartes, Sorbonne Paris Cité Mitochondrial encephalomyopathy associated with the m.618T>C in MT-TF 1: Hospital Municipal Dr. José de Carvalho, Brazil; 2: Escola Paulista de Medicina, Universidade Federal de São Paulo, Brazil TWNK in Parkinson's disease: a Movement Disorder and Mitochondrial Disease Center perspective study 1: School of Medicine and Surgery and Milan Center for Neuroscience, University of Milan-Bicocca.; 2: Foundation IRCCS San Gerardo dei Tintori, Monza; 3: Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy; 4: Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy; 5: IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy; 6: Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; 7: Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy; 8: Neurology Unit, Rovereto Hospital, Azienda Provinciale per i Servizi Sanitari (APSS) di Trento, Trento, Italy; 9: Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Audiology Unit, Milan, Italy; 10: University of Milan, Milan, Italy; 11: Department of Neurology, Istituto di Ricovero e Cura a Carattere Scientifico Humanitas, Research Hospital, Milan, Italy; 12: Department of Medical Biochemistry and Cell Biology, University of Gothenburg, P.O. Box 440, SE 405 30 Gothenburg, Sweden; 13: Department of Molecular Medicine, University of Pavia, Pavia, Italy. Novel pathogenic MT-ND3 variant causing a particular MELAS phenotype 1: CHU de Nice, France; 2: Université Côte d'Azur, CNRS, INSERM, IRCAN; 3: Service de Neurologie- Hôpital Pasteur 2, CHU de Nice; 4: Centre de référence des Maladies neuromusculaires Mitochondrial molecular genetic findings in the South African diagnostic setting 1: University of Cape Town, Cape Town, South Africa; 2: National Health Laboratory Sevices, South Africa; 3: Red Cross War Memorial Children's Hospital, Cape Town, South Africa Known genes, new genes and new phenotypes in inherited mitochondrial eye diseases 1: Moorfields Eye Hospital NHS Foundation Trust, London, UK; 2: Institute of Ophthalmology, University College London, London, UK; 3: The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK; 4: North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; 5: John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; 6: Cambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals, Cambridge, UK LHON spectrum disorder: new phenotypes and genotypes 1: San Raffaele Hospital, Italy; 2: IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica (Bologna, Italy); 3: Studio Oculistico d’Azeglio (Bologna, Italy); 4: Department of Clinical Science and Community Health, University of Milan, (Milan, Italy); 5: Unit 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 1: Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; 2: Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; 3: Novo Nordisk Research Centre Oxford, Innovation Building, University of Oxford, Old Road Campus, Oxford, UK; 4: Functional Genomics Centre, Milner Therapeutics Institute, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK; 5: Max Planck Institute for Biology of Ageing, Cologne, Germany; 6: Biosciences Institute, Faculty of Medical Sciences, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK Identifying mitochondrial methyltransferases using unbiased proteome-ligand profiling 1: Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden, Sweden; 2: Centre 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. 1: Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, (Munich, Germany); 2: Institute of Neurogenomics, Helmholtz Zentrum München (Neuherberg, Germany); 3: Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy); 4: Department of Neurology, Friedrich-Baur-Institute, LMU Hospital, Ludwig Maximilians University (Munich, Germany); 5: Department 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 1: UCL Queen Square Institute of Neurology, United Kingdom; 2: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; 3: Centre for Personalised Medicine, and Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK; 4: Clinical 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 1: Department of Genetics, Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands.; 2: Department 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 1: Department of Biology, University of Padova, Italy; 2: Department 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 1: Murdoch Children's Research Institute, Melbourne, Australia; 2: University of Melbourne, Melbourne, Australia; 3: Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; 4: University of Sydney, Sydney, Australia; 5: Australian Genomics, Melbourne, Australia; 6: Genetic Health Queensland, Royal Brisbane and Women’s Hospital, Brisbane, Australia; 7: Sydney Children’s Hospitals Network – Westmead, Sydney, Australia; 8: Sydney Children’s Hospitals Network – Randwick, Sydney, Australia; 9: University of New South Wales, Sydney, Australia; 10: Monash Genetics, Monash Health, Melbourne, Australia; 11: Department of Paediatrics, Monash University, Melbourne, Australia; 12: Paediatric and Reproductive Genetics Unit, Women’s and Children’s Hospital, North Adelaide, Australia; 13: Adelaide Medical School, The University of Adelaide, Adelaide, Australia; 14: Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia; 15: Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, Australia; 16: School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia; 17: Genetic Services of Western Australia, Perth, Australia; 18: Department of Clinical Genetics, The Canberra Hospital, Canberra, Australia; 19: Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; 20: Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, Australia; 21: Neuroscience 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. 1: Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, Barcelona, Spain; 2: Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany; 3: CNAG-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 1: University of Helsinki, Finland; 2: NADMED Ltd, Finland; 3: HUS Diagnostic Centre, Finland Enzymatic assay for UDP-GlcNAc and its application in the parallel assessment of substrate availability and protein O-GlcNAcylation 1: Folkhalsan Research Center, Finland; 2: Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Finland; 3: Viikki Metabolomics Unit, University of Helsinki, Finland; 4: Children’s Hospital, Helsinki University Hospital, Finland Genetic testing for mitochondrial disease: The United Kingdom best practice guidelines 1: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 2: Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; 3: Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; 4: Oxford 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 1: Wellcome Centre for Mitochondrial Research and Institute for Translational and Clinical Research, Newcastle University, Newcastle upon Tyne, UK; 2: NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 3: Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-University (LMU Klinikum), Munich, Germany; 4: Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK; 5: Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK; 6: Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK; 7: Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; 8: German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; 9: Department of Neurology, University Hospital Bonn, Bonn, Germany; 10: Neurological Institute of Pisa, Italy; 11: Institute of Human Genetics, School of Medicine, Technische Universität München, München, Germany; 12: Institute of Neurogenomics, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany; 13: Department of Neurology, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany; 14: Department of Neurology, Martin-Luther-University Halle-Wittenberg, 06120 Halle (Saale), Germany; 15: Neurogenetics Unit, The National Hospital for Neurology and Neurosurgery, London, UK; 16: Population Health Sciences Institute, Newcastle University, UK Mitochondrial DNA depletion and deletion analysis using smMIPs 1: Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands; 2: Radboud Center for Mitochondrial Medicine (RCMM), Radboudumc, Nijmegen, The Netherlands; 3: Department of Pediatrics, Radboudumc, Nijmegen, The Netherlands Ultrastructure of mitochondria in 3D from volume electron microscopy 1: Department of Computer Science, University of Copenhagen, Denmark; 2: Center for Quantification of Imaging Data from MAX IV; 3: Department of Clinical Medicine, Aarhus University, Denmark; 4: Center 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 1: Department of Biochemistry and Pharmacology, University of Melbourne, Melbourne, Australia; 2: Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, Australia; 3: Department of Biochemistry and Molecular Biology, Monash University, Melbourne,Australia; 4: The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; 5: Baker Heart and Diabetes Institute, Melbourne, Australia; 6: Institute for Health and Sport (IHES), Victoria University, Melbourne, Australia Global analysis of protein methylation in the mitochondrial compartment of cancer cells: a proteomic approach 1: Department of Experimental Oncology, European Institute of Oncology (IEO), IRCCS Milano, Italy; 2: European School of Molecular Medicine (SEMM); 3: Department of Pharmacological and Biomolecular Sciences, University of Milan, Italy; 4: Department of Oncology and Hematology-Oncology, University of Milan, Milan, Italy MITODIAG : The French network of diagnostic laboratories for mitochondrial diseases 1: Service de génétique médicale, Centre de référence des maladies mitochondriales, CHU Nice, Université Cote d’Azur, CNRS, INSERM, IRCAN, Nice; 2: Filnemus, laboratoire de génétique moléculaire, CHU Montpellier; 3: Service de génétique, Institut de Biologie en santé, Centre National de référence Maladies Neurodégénératives et Mitochondriales, CHU Angers; 4: Fédération de génétique médicale, Service de génétique moléculaire du GH Necker-enfants malades, Hôpital Necker-Enfants Malades, Paris; 5: Laboratoire de Biochimie, Pôle BPP, CHU Paris Sud, Hôpital Bicêtre-le Kremlin Bicêtre, Paris; 6: Pôle de biologie et pathologie, CHU Bordeaux; 7: Unité fonctionnelle d’histologie moléculaire, Service de pathologie, CHU Bordeaux-GU Pellegrin, Bordeaux; 8: Service de biochimie et biologie moléculaire Grand Est, UM Maladies Héréditaires du Métabolisme, Centre de biologie et pathologie Est, CHU Lyon HCL, GH Est, Lyon; 9: Laboratoire de génétique, Hématologie et Immunologie, CHU Reims; 10: Laboratoire 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; 11: Service de biochimie, Pôle Biologie, Pharmacie et Hygiène, CHU Caen, Hôpital de la Côte de Nacre, Caen; 12: Laboratoire de Génétique Moléculaire, CHU Montpellier, PhyMedExp, Université de Montpellier, INSERM, CNRS, Montpellier; 13: Filnemus, Assistance Publique Hôpitaux Marseille, Service de Neurologie, Hôpital La Timone, Marseille Multiomic mitochondrial and metabolic screening reveals potential biomarkers in inclusion body myositis 1: Hereditary 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; 2: Department of Internal Medicine, Hospital Clinic of Barcelona, Barcelona, Spain; 3: CIBERER— Spanish Biomedical Research Centre in Rare Diseases, Madrid, Spain; 4: Department 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 1: Research centre for medical genetics, Russian Federation; 2: Morozov's Moscow City Child Clinical Hospital, Moscow, Russia Incorporation of exogenous mitochondria into cells and their effects on the cells 1: LUCA Science, Japan; 2: Biological Drug Development based DDS technology, Hokkaido Univ. Mitochondrial encapsulation technology for mitochondrial transplantation therapy 1: Pharmaceutical Sciences Laboratory, Åbo Akademi University, Finland; 2: Turku Bioscience Centre, University of Turku and Åbo Akademi University Inhibition of mtDNA transcription in liver reverses diet-induced obesity and hepatosteatosis in the mouse 1: Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Sweden; 2: Max-Planck Institute of Biochemistry, Martinsried, Germany; 3: Metabolomics 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 1: Sheffield Institute for Translational Neuroscience, University of Sheffield, United Kingdom; 2: Nanna Therapeutics, Cambridge, United Kingdom Knockout of Complex III subunit Uqcrh decreases respiratory capacity and impairs cardiac contractile function independent of mitochondrial ROS production 1: Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Center Munich, German Research Center for Environmental Health, Germany; 2: Jena University Hospital, Friedrich-Schiller University of Jena, Germany; 3: Oroboros Instruments, Innsbruck, Austria; 4: Department of Biochemistry and Molecular Biology, Semmelweis University Budapest, Hungary; 5: Institute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians-Universität München, Germany; 6: Member of German Center for Diabetes Research (DZD), Germany; 7: Chair of Experimental Genetics Experimental Genetics, School of Life Science Weihenstephan, Technische Universität München, Germany; 8: BioMediTech & Tampere University Hospital, Faculty of Medicine and Health Technology, Tampere University, Finland; 9: Contributed equally Molecular insights into the role of complex V deficiency in heart development, function and disease 1: Stem Cell Unit, Clinic for Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany; 2: German Center for Cardiovascular Research (DZHK), partner site Göttingen, Germany; 3: Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany; 4: Research 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 1: Heinrich Heine University Düsseldorf, Germany; 2: IUF- Leibniz Research Institute for Environmental Medicine A neuronal model of mtDNA disease reveals a compensatory reprogramming of the electron transfer chain during neuronal maturation 1: Wellcome Centre for Mitochondrial Research, Newcastle University, United Kingdom; 2: Metabolism 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 1: Children's Hospital of Philadelphia, USA; 2: University of Pennsylvania, USA; 3: Boston University, USA; 4: National Emerging Infectious Diseases Laboratories, Boston, USA Metabolic analysis of mouse sarcopenic skeletal muscle identifies new strategies to increase lifespan in C. elegans 1: Karolinska Institutet, Sweden; 2: Centre for Vision Research Duke-NUS & Singapore National Eye Centre, Singapore; 3: Save Sight Institute at the University of Sydney, Australia; 4: The University of Melbourne, Australia. Delineating mitochondrial pathology using a genome-wide CRISPR/Cas9 activation screen 1: Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, NE2 4HH; 2: NHS 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. 1: IMol Polish Academy of Sciences, Poland; 2: ReMedy International Research Agenda Proteotoxicity induced mitochondrial integrated stress response in CHCHD10-linked adult-onset spinal muscular atrophy 1: Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki; 2: Helsinki Institute of Life Science HiLIFE, University of Helsinki; 3: Genetically Modified Rodents Unit, Laboratory Animal Center, University of Helsinki; 4: Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki; 5: Faculty of Biological and Environmental Sciences, University of Helsinki; 6: Division of Clinical Neurosciences, Turku University Hospital and University of Turku; 7: Department of Neurology, Neuromuscular Research Center, Tampere University Hospital and Tampere University; 8: Clinical 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 1: IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 2: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 3: Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele, Milan, Italy; 4: Azienda Ospedaliera San Camillo-Forlanini, Rome, Italy; 5: Ospedale Oftalmico Roma, Rome, Italy; 6: Ophthalmology Unit, University Hospital of Parma, Parma, Italy; 7: Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy; 8: Department of Translational Biomedicine and Neuroscience (DiBraiN), University of Bari Aldo Moro, Bari, Italy; 9: Neuroophthalmology Service and Ocular Electrophysiology laboratory, Department of Ophthalmology, IRCCS Istituto Auxologico Italiano, Milan, Italy Aberrant ER-mitochondria communication in human mitochondrial disease 1: Columbia University, USA; 2: Centro de Investigaciones Biológicas “Margarita Salas”, Madrid, Spain Mitochondrial F0F1-ATP synthase conditions the responsiveness of mitochondria to fission 1: MITOVASC Université d'Angers, France; 2: Departments of Biochemistry and Molecular Biology, University Hospital Angers, Angers, France; 3: Laboratoire de Neurobiologie et Neuropathologie, Centre Hospitalier Universitaire d'Angers, Angers, France A screening method for mitochondrial disorders by high-resolution respirometry 1: National Institute of Chemical Physics and Biophysics, Estonia; 2: Clinic of Internal Medicine, East-Tallinn Central Hospital, Estonia AK3, adenylate kinase isozyme 3, is a new gene associated with PEO and multiple mtDNA deletions 1: Fondazione IRCCS Istituto Neurologico Besta, Italy; 2: Vall d'Hebron Research Institute, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Autonomous University of Barcelona, Barcelona, Spain; 3: Centro Sclerosi Multipla, P.O. Binaghi, ASL Cagliari, Italy; 4: Technical University of Munich, School of Medicine, Institute of Human Genetics, 81675 Munich, Germany; 5: Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany; 6: Department 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 1: IRCCS - Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica - Bologna (Italy); 2: Studio Oculistico d'Azeglio - Bologna (Italy); 3: Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele - Milano (Italy); 4: Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD-UAM) - Madrid (Spain); 5: Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII - Madrid (Spain); 6: Grupo 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); 7: Université d’Angers, MitoLab team, UMR CNRS 6015 - INSERM U1083, Unité MitoVasc - Angers (France); 8: Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University - Paris (France); 9: Departments of Biochemistry and Genetics, University Hospital Angers - Angers (France); 10: Molecular Genetics Laboratory, Institute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany; 11: Depart. 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? 1: Human Metabolomics, North-West University, Potchefstroom, South Africa; 2: Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa; 3: Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; 4: Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; 5: https://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 1: Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy); 2: University of Milan (Milan, Italy) Quantification of all 12 canonical ribonucleotides by real-time fluorogenic in vitro transcription 1: Folkhalsan Research Center, Finland; 2: Stem 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 1: Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK; 2: Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge UK; 3: Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, UK; 4: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK; 5: European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK; 6: Cancer Research UK Beatson Institute, Glasgow, UK; 7: Institute of Cancer Sciences, University of Glasgow, Glasgow, UK; 8: Mary Lyon Centre MRC Harwell, UK; 9: University of Padua, Italy |
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4:30pm - 6:00pm |
Session 2.4: New technological developments and OMICS Location: Bologna Congress Center - Sala Europa Chair: Holger Prokisch Chair: Leonid Sazanov Invited Speaker: :S. Churchman; :H. Hillen
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 1: Department of Cellular Biochemistry, University Medical Center Göttingen, Germany; 2: Research 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 1: Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; 2: Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; 3: Novo Nordisk Research Centre Oxford, Innovation Building, University of Oxford, Old Road Campus, Oxford, UK; 4: Functional Genomics Centre, Milner Therapeutics Institute, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK; 5: Department of Medical Biochemistry and Cell Biology, University of Gothenburg, PO Box 440, Gothenburg 405 30, Sweden; 6: Max Planck Institute for Biology of Ageing, Cologne, Germany; 7: Biosciences 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 1: Department of Pathology, Stanford University, Stanford, CA 94305, USA; 2: Parker Institute of Cancer Immunotherapy, San Francisco, CA 94129, USA; 3: Department of Genetics, Stanford University, Stanford, CA 94305, USA; 4: Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; 5: Division of Hematology / Oncology, Boston Children’s Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA; 6: Berlin Institute of Health at Charité – Universitätsmedizin Berlin, Charitéplatz 1, 10117 Berlin, Germany; 7: Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin Institute for Medical Systems Biology (BIMSB), 10115 Berlin, Germany; 8: Institute of Biotechnology, Technische Universität Berlin, Berlin, Germany; 9: Department of Biology, Chemistry, Pharmacy, Freie Universität Berlin, Berlin, Germany; 10: Technology Innovation Lab, New York Genome Center, New York, NY 10013, USA; 11: Paulson School of Engineering and Applied Sciences, Harvard University, Cambridge, MA 02134, USA; 12: Center for Pediatric Neurosciences, Mitochondrial Medicine, Cleveland Clinic, Cleveland, OH 44195, USA; 13: Department of Pathology, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA; 14: Department of Pediatric Oncology, Charité-Universitätsmedizin Berlin, Campus Virchow Klinikum, 13353 Berlin, Germany; 15: Department of Computer Science, Stanford University, Stanford, CA 94305, USA; 16: Department of Biology and Koch Institute, Massachusetts Institute of Technology, Cambridge, MA 02139, USA; 17: Current address: Immunai, New York, NY 10114, USA; 18: Current address: 10x Genomics, San Francisco, CA 94111, USA; 19: Current 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 1: Folkhalsan Research Center, Finland; 2: Stem 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 1: Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy); 2: University of Milan (Milan, Italy) |
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6:00pm - 7:00pm |
Poster session Location: Bologna Congress Center Session topics:
- Modelling pathogenic mechanisms: OXPHOS, metabolic rewiring and tissue specificity Maintenance on mitochondrial complexes ensures bioenergetic function in differentiated cells 1: Institute for Cardiovascular Physiology, Goethe University Frankfurt, Germany; 2: Molecular 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 1: Ibs.Granada, Granada, Spain; 2: Physiology Department, Biomedical Research Center, University of Granada, Granada, Spain; 3: Biofisika 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. 1: University of Saskatchewan, Canada; 2: Auburn University Tissue-specific adaptation of stress responses upon COX10 deficiency 1: CECAD Research Center, Germany; 2: Institute for Mitochondrial Diseases and Aging, Medical Faculty, University of Cologne Using iPSC-derived neurons to unravel the pathomechanisms of Leber’s hereditary optic neuropathy 1: Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; 2: IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 3: Division of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), San Raffaele Scientific Institute, via Olgettina 60, 20132, Milan, Italy; 4: National Research Council (CNR), Institute of Neuroscience, Milan, Italy; 5: Department of Medical Sciences, Laboratory for Technologies of Advanced Therapies, University of Ferrara, 44121 Ferrara, Italy; 6: Maria Cecilia Hospital, GVM Care & Research, 48033, Cotignola, Ravenna, Italy; 7: Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy Stem cell modelling of mitochondrial disease-linked cardiomyopathy 1: Murdoch Children’s Research Institute, The Royal Children's Hospital, Melbourne, VIC, Australia; 2: Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia; 3: Department of Biochemistry and Pharmacology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, Australia; 4: Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC, Australia; 5: Victorian Clinical Genetics Services, The Royal Children’s Hospital, Melbourne, VIC, Australia; 6: The Novo Nordisk Foundation Center for Stem Cell Medicine (reNEW), Murdoch Children's Research Institute, Melbourne, VIC, Australia; 7: Melbourne Centre for Cardiovascular Genomics and Regenerative Medicine, The Royal Children's Hospital, Melbourne, VIC, Australia; 8: Department 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 1: Institute for Cardiovascular Physiology, Goethe University Frankfurt, Germany; 2: Radboud 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 1: Research Group on Neuromuscular and Mitochondrial Disorders, Vall d’Hebron Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain; 2: Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; 3: BCNatal | 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.; 4: Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, Australia; 5: Instituto de Investigación, Hospital Universitario 12 de Octubre, Avda. de Córdoba s/n, 28041 Madrid, Spain.; 6: Laboratory 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 1: Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden; 2: Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Karolinska Institutet, Stockholm, Sweden; 3: Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden The role of the CCR4 family member ANGEL1 in the expression of mitochondrial-targeted proteins 1: Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden; 2: Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Tissue-specific bioenergetics in mouse models of mitochondrial disease 1: Università di Padova; 2: Semmelweis University; 3: Universität Innsbruck; 4: University of Sussex Yeast as a tool to investigate variants in mtARS genes associated with mitochondrial diseases 1: Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy; 2: Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; 3: Department 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 1: University of Zaragoza, Spain; 2: University of Zaragoza, Peaches Biotech Group, Spain; 3: Fundación Centro Nacional de Investigaciones Cardiovasculares Carlos III, Spain A systemic Muscle-WAT crosstalk progressively depletes protein and fat stores aggravating mitochondrial myopathy. 1: Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY; 2: Weill Cornell Medicine, Department of Pharmacology, New York, NY; 3: Fondazione 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 1: Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; 2: Department of Applied Sciences, Faculty of Health & Life Sciences, Northumbria University, Newcastle upon Tyne, UK; 3: Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, QC, Canada; 4: Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO 63110, USA; 5: Functional 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 1: Department of Molecular Biology, Centro de Biología Molecular "Severo Ochoa" (CBMSO-UAM-CSIC), Madrid, Spain; 2: Instituto Universitario de Biología Molecular (IUBM), Autonomous University of Madrid, Madrid, Spain; 3: Centro de Investigación Biomédica en red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; 4: Instituto de Investigación Hospital 12 de octubre, i+12, Universidad Autónoma de Madrid, Madrid, Spain Metabolic rewiring as an adaptive mechanism in COX null cells 1: Department of Bioenergetics, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic; 2: Faculty of Science, Charles University, 12800 Prague, Czech Republic; 3: Laboratory 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 1: North-West University, South Africa; 2: Osaka University, Japan; 3: Radboud University Medical Center, Netherlands; 4: University of Tsukuba, Japan Novel or rare AIFM1 pathogenic variants: their impact on mitochondrial metabolism and clinical manifestation in eight patients, including 3 girls 1: Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague; 2: Institute of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava Pathological molecular mechanisms underlying COA8 loss of function 1: Department of Biomedical Sciences, University of Padova, Padova, Italy; 2: Veneto Institute of Molecular Medicine, Padova, Italy; 3: Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; 4: University of Texas Southwestern Medical Center, Dallas, TX, USA; 5: Department of Chemical Sciences, University of Padova, Padova, Italy; 6: Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany; 7: Department of Neurosciences, University of Padova, Padova, Italy Retinal pathophysiology characterisation of the novel mitochondrial heteroplasmy mouse model 1: University of Cambridge, United Kingdom; 2: Newcastle University, United Kingdom Impaired spermatogenesis driven by mitochondrial dysfunction and ferroptosis in primary spermatocytes in a mouse model of Leigh syndrome 1: University of Pennsylvania,USA; 2: University of Angers, SFR ICAT, SCIAM, 49000 Angers, France; 3: MITOLAB, University of Angers, INSERM U1083, France; 4: Pablo de Olavide University, Spain; 5: Neuromuscular Reference Center CHU Angers, France Mitophagy dysfunction in mitochondrial myopathy and therapy by mitophagy activator CAP1902 1: STEMM Research Program, Biomedicum Helsinki, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 2: Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; 3: Department of Pharmacology, Center for Innovations in Brain Science, University of Arizona, Tucson, AZ, USA; 4: Department 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 1: Institut Pasteur, Mitochondrial Biology Group, CNRS UMR 3691, Université Paris Cité, Paris, France.; 2: Institut Pasteur, Biomics Technological Platform, Université Paris Cité, Paris, France.; 3: Institut Pasteur, Bioinformatics and Biostatistics Hub, Université Paris Cité, Paris, France.; 4: Institut Pasteur, Proteomics Core Facility, MSBio UtechS, UAR CNRS 2024, Université Paris Cité, Paris, France.; 5: Institut Pasteur Ultrastructural Bio Imaging, UTechS, Université Paris Cité, Paris, France.; 6: Platform for Metabolic Analyses, SFR Necker, INSERM US24/CNRS UMS 3633, Paris, France.; 7: Department 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 1: Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia; 2: Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia; 3: Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia; 4: Metabolomics Australia, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia; 5: Victorian 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 1: Department of Medicine, Endocrinology, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095 USA; 2: Metabolism Theme, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095, USA; 3: Department of Molecular and Medical Pharmacology, University of California, Los Angeles, CA, 90095, USA; 4: Molecular & Cellular Integrative Physiology, University of California, Los Angeles, CA, 90095, USA.; 5: Institut 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 1: Columbia University Irving Medical Center, United States of America; 2: University of Florida, United States of America; 3: Angers University, UMR CNRS 6015 - INSERM U1083, MitoVasc Institute, Angers, France; 4: Yale University, United States of America; 5: University of Pennsylvania, United States of America; 6: Stanford University, United States of America; 7: University of California San Francisco, United States of America; 8: Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; 9: University of Copenhagen, Denmark; 10: University of Udine, Italy; 11: Altos labs, United States of America; 12: University of Texas Southwestern Medical Center, United States of America; 13: University of Pittsburgh, United States of America; 14: Thomas Jefferson University, United States of America Dysfunction of mitochondrial chaperone HSP60 triggers disruption of mitochondrial pathways activating multiple regulatory responses 1: Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University, Aarhus, Denmark; 2: Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark; 3: Department of Forensic Medicine, Aarhus University, Aarhus, Denmark; 4: Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark; 5: Center 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 1: Unit of Medical genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; 2: Istituto Auxologico Italiano IRCCS, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy; 3: Department of Biotechnology and Biosciences, University of Milano - Bicocca, Milan, Italy High aerobic exercise capacity predicts increased mitochondrial response to exercise training 1: Department of Cardiothoracic Surgery, University Hospital of Friedrich-Schiller-University Jena, Germany; 2: Department of Physiology and Pharmacology, University of Toledo, Toledo, OH, United States; 3: Department of Anesthesiology, University of Michigan, Ann Arbor, MI, United States Investigating the role of LONP1 in heart and skeletal muscle metabolism 1: Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), 50931 Cologne, Germany; 2: Department III of Internal Medicine, Heart Center, University Hospital of Cologne, 50931 Cologne, Germany; 3: Center for Molecular Medicine Cologne (CMMC), 50931 Cologne, Germany Mitochondrial dysfunction promotes liver fibrosis through the ACOT2-MCT6-OXCT1 axis. 1: Karolinska Institutet, Sweden; 2: Zhengzhou University, China; 3: Norwegian Veterinary Institute, Norway PNC2 (SLC25A36) deficiency associated with the hyperinsulinism/hyperammonemia syndrome 1: Università degli Studi di Bari Aldo Moro, Italy; 2: Libera Università Mediterranea Giuseppe Degennaro, Italy; 3: Department of Pediatrics and Genetics, Al Makassed Hospital and Al-Quds University, Palestine.; 4: Department of Genetics, Hadassah, Hebrew University Medical Center, Israel Cultured neurons with CoQ10 deficiency reveal alterations of lipid metabolism 1: Department of Neurology, Columbia University Irving Medical Center, New York, NY, 10032, United States; 2: IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy; 3: Institute of Biotechnology, Biomedical Research Center (CIBM), Health Science Technological Park (PTS), University of Granada, Armilla, Granada, 18100, Spain; 4: Department of Pharmacy Practice and Science, College of Pharmacy, University of Nebraska Medical Center, 986145 Nebraska Medical Center, Omaha, NE; 5: Unita` 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 1: Faculty of Biochemistry and Molecular Medicine, University of Oulu, Finland; 2: Biocenter Oulu, University of Oulu, Oulu, Finland; 3: Faculty of Physics, University of Warsaw, Warsaw, Poland; 4: Molecular and Cellular Modeling Group, Heidelberg Institute for Theoretical Studies (HITS), Heidelberg, Germany; 5: Department of Biochemistry and Molecular Biology, University of Würzburg, Würzburg, Germany; 6: Zentrum für Molekulare Biologie (ZMBH), DKFZ-ZMBH Alliance and Interdisciplinary Center for Scientific Computing (IWR), Heidelberg University, Heidelberg, Germany Antibiotics directly affect mitochondrial respiration 1: Technische Universität München, Germany; 2: Oroboros Instruments GmbH, Innsbruck, Austria; 3: Helmholtz Zentrum München, Germany Can transmission of mitochondria over the species barrier promote climate change adaptation? 1: Tampere University, Finland; 2: University 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 1: IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy; 2: Department 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 1: University of Colorado/Rocky Mountain Regional VA Medical Center, United States of America; 2: Cornell 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 1: Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland; 2: Department of Molecular Biology, Umeå University, Umeå, Sweden; 3: Institute 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. 1: Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK.; 2: School 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 1: Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Victoria,Australia; 2: Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia; 3: Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia; 4: Ian Holmes Imaging Centre, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Melbourne, Victoria, Australia; 5: Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia; 6: Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, Victoria, Australia; 7: Harry Perkins Institute of Medical Research and The University of Western Australia Centre for Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia; 8: ARC Centre of Excellence in Synthetic Biology, QEII Medical Centre and University of Western Australia, Nedlands, Western Australia, Australia; 9: Telethon Kids Institute, Northern Entrance, Perth Children's Hospital, 15 Hospital Avenue, Nedlands, Western Australia, Australia; 10: Mass Spectrometry and Proteomics Facility, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Victoria, Australia Dynamics of adenine nucleotides in colorectal cancer clinical material 1: National Institute of Chemical Physics and Biophysics, Estonia; 2: Tallinn University of Technology, Estonia; 3: North Estonia Medical Centre The role of SURF1 protein in cytochrome c oxidase biogenesis 1: Institute of Physiology of the Czech Academy of Sciences, Czech Republic; 2: Institute of Microbiology, Czech Academy of Sciences, Trebon, Czech Republic; 3: Departement of Biomedical Sciences, University of Padova, Padova, Italy; 4: Departement of Neurosciences, University of Padova, Padova, Italy Depicting inclusion body myositis using a patient-derived fibroblast model 1: Laboratory 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; 2: Department of Internal Medicine, Hospital Clinic of Barcelona, Barcelona, Spain; 3: CIBERER— Spanish Biomedical Research Centre in Rare Diseases, Madrid, Spain; 4: CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain; 5: Universitat Pompeu Fabra (UPF), Barcelona, Spain; 6: Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu; Esplugues de Llobregat, Barcelona, Spain; 7: Department of Cell Death and Proliferation, Institute of Biomedical Research of Barcelona (IIBB-CSIC), Liver Unit-HCB-IDIBAPS, Barcelona, Spain; 8: CIBEREHD-Spanish Biomedical Research Centre in Hepatic and Digestive Diseases, Madrid, Spain; 9: Department 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 1: Hospital Clinic, IDIBAPS, CIBERER, Barcelona, Spain; 2: Hospital 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 1: Laboratory 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.; 2: Internal Medicine Department - Hospital Clínic de Barcelona; Barcelona, Spain.; 3: CIBERER—Spanish Biomedical Research Centre in Rare Diseases; Madrid, Spain.; 4: Hospital Sant Joan de Déu (HSJdD) de Barcelona, Barcelona, Spain.; 5: Grupo de Enfermedades Mitocondriales, Instituto de Investigación Hospital 12 de Octubre (imas12). Madrid. Spain.; 6: Centro 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 1: Department of Paediatrics and Inherited Metabolic Disorders, Charles University and General University Hospital in Prague, Prague, Czech Republic; 2: Institute 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 1: Institute of Physiology of the Czech Acad. Sci., Prague, Czech Republic; 2: Institute of Molecular Genetics of the Czech Acad. Sci., Prague, Czech Republic; 3: Faculty of Medicine, Charles University, Hradec Kralove, Czech Republic Mutation in Coq5 leads to CoQ10 deficiency, developmental delay and early death in zebrafish 1: Physiology Department, Biomedical Research Center, University of Granada, Granada, Spain; 2: Ibs.Granada, Granada, Spain Omega-3 supplementation effects on mitochondrial and metabolic profile in a rabbit model of intrauterine growth restriction 1: Inherited 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; 2: Internal Medicine Unit, Medicine Department, Hospital Clínic of Barcelona, 08036 Barcelona, Spain; 3: Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain; 4: BCNatal—Barcelona Centre for Maternal-Foetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Déu), IDIBAPS, University of Barcelona, 08036 Barcelona, Spain; 5: Department 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. 1: Clinical Genetics Unit, Department of Women and Children’s Health, University of Padova and “Fondazione Istituto di Ricerca Pediatrica Città Della Speranza”, 35127 Padova, Italy.; 2: Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari Aldo Moro, 70121 Bari, Italy; 3: Department 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 1: Centro Andaluz de Biología del Desarrollo/Universidad Pablo de Olavide-CSIC-JA, Seville, Spain; 2: CIBERER, Instituto de Salud Carlos III, Madrid, Spain; 3: Laboratorio 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 1: University of Padova, Italy; 2: Isituto di Ricerca Pediatrica - Cittá della Speranza, Italy; 3: Pablo 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 1: Physiology Department, Biomedical Research Center, University of Granada, Granada, Spain; 2: Ibs.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 1: Oroboros Instruments, Innsbruck, Austria; 2: Dept Biochem, Semmelweis Univ, Budapest, Hungary; 3: CNC-Center Neurosci and Cell Biol, Univ Coimbra, Portugal; 4: IIUC-Inst Interdisciplinary Research, Univ Coimbra, Portugal; 5: CIBB-Center for Innovative Biomed Biotechnol, Univ Coimbra, Portugal; 6: PDBEB-PhD Programme in Exp Biol Biomed, IIUC, Univ Coimbra, Portugal; 7: Lab Pharmaceut Pharmacol, Latvian Inst Organic Synthesis, Riga, Latvia Mitochondrial alterations in sirtuin1 heterozygous mice fed high fat diet and melatonin 1: Dept Biomedical Sciences for Health, University of Milan, Milan, Italy; 2: Laboratorio Morfologia Umana Applicata, IRCCS Policlinico San Donato, Milan, Italy; 3: Dept Clinical and Experimental Sciences, University of Brescia, Brescia, Italy; 4: Center for Electron Microscopy, University of Belgrade, Belgrade, Serbia; 5: Instituto de Investigaciones Biomedicas “Alberto Sols” (CSIC-UAM), Madrid, Spain Microproteins in metabolic regulation 1: Duke-NUS Medical School, Singapore; 2: University of Melbourne, Australia; 3: University of Utah, USA; 4: University of Southampton, UK Oxphos deficiency indicates novel functions for the mitochondrial protein import subunit tim50 1: Department of Biochemistry and Pharmacology and the Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, 3010, Australia; 2: Queensland Children’s Hospital, Department of Metabolic Medicine, South Brisbane, Brisbane, Queensland, 4001, Australia; 3: Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Victoria, 3052, Australia; 4: Department of Paediatrics, University of Melbourne, Melbourne, Victoria, 3052, Australia; 5: Victorian 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 1: Instituto de Investigación Hospital 12 de Octubre, Madrid 28041, Spain; 2: Department of Biomedical Sciences, University of Padova, 35131 Padova, Italy; 3: Centro 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 1: Clinical Genetics Unit, Department of Women’s and Children’s Health, University of Padua, and Istituto di Ricerca Pediatrica (IRP) Città della Speranza, Padua, Italy; 2: Department 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 |