Conference Agenda

The Organization of the Respiratory Chain and its role in Metabolism

Nils-Göran Larsson

Karolinska Institutet, Sweden

Developing new therapies for mitochondrial diseases

Carlo Viscomi

University of Padova, Italy

AAV-mediated transduction of the nuclear-coded mitochondrial ANT1 gene can ameliorate mouse Ant1-/- pathology: a step toward the treatment of mitochondrial cardiomyopathy

Alessia Angelin^1,2, Kierstin Keller^1,2, Prasanth Potluri^1,2, Deborah Murdock^1,2, Liming Pei^1,2, Douglas C Wallace^1,2

1: The Children's Hospital of Philadelphia, PA USA; 2: Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA

Preclinical studies of efficacy and genetic safety of deoxyribonucleosides as a therapy for mitochondrial DNA maintenance defects

Javier Ramón^1,2, Cristina Domínguez-González^2,5, Jordi Leno-Colorado³, Maria Ylla-Català^1,2, Cora Blázquez-Bermejo^1,2, Pau Molla-Zaragoza^1,2, Anne Lombès⁴, Miguel A. Martín^2,5, M.Dolores Sardina⁶, Itxaso Martí⁷, Adolfo López de Munain^8,9, Francina Munell¹⁰, Raúl Juntas¹¹, Juan Luis Restrepo-Vera¹¹, Antònia Ribes^2,12, Anna Karlsson¹³, Antonella Spinazzola¹⁴, Andrés Nascimento^2,15, Marcos Madruga¹⁶, Carmen Paradas^9,17, Elena García-Arumí^1,2,3, Yolanda Cámara^1,2, Ramon Martí^1,2

1: Research Group on Neuromuscular and Mitochondrial Diseases, Vall d’Hebron Research Institute, Universitat Autònoma de Barcelona, Spain; 2: Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; 3: Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; 4: Institut Cochin, INSERM Unité 1016–Centre National de la Recherche Scientifique (CNRS), Unité Mixte de Recherche (UMR) 8104–Service de Biochimie Métabolique et Centre de Génétique Moléculaire et Chromosomique, Groupement Hospitalier Universitaire (GHU) Pitié-Salpétrière, Assistance Publique–Hôpitaux de Paris (AP–HP)–Université Paris Descartes, Paris, France; 5: Mitochondrial and Neuromuscular Disorders Group, '12 de Octubre’ Hospital Research Institute (imas12), Madrid, Spain; 6: Pediatric Neurology Department, Badajoz Hospital Complex, Badajoz, Spain; 7: Pediatric Neurology Department, Donostia University Hospital, San Sebastian, Spain; 8: Neurology Department, Donostia University Hospital, Osakidetza, San Sebastián. Neuromuscular Group, Neurosciences Area, Biodonostia Research Institute, San Sebastián, Spain; Neurosciences Department, Basque Country University, San Sebastián, Spain; 9: Centro de Investigación en Red de Enfermedades Neurodegenerativas, CIBERNED (CIBER), Instituto Carlos III, Madrid, Spain; 10: Children Neuromuscular Diseases Unit, Pediatrics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain; 11: Department of Neurology, Neuromuscular Diseases Unit, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain; 12: Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, Barcelona, Spain; 13: Division of Clinical Microbiology, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden; 14: Department of Clinical Movement Neurosciences, Royal Free Campus, University College of London, Queen Square Institute of Neurology, London, UK; 15: Neuromuscular Unit, Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona, Spain; 16: Neuropediatra, Neurolinkia & Hospital Viamed Santa Ángela De la Cruz, Sevilla, Spain; 17: Neuromuscular Diseases Unit, Neurology Department, Hospital Universitario Virgen del Rocío/ Instituto de Biomedicina de Sevilla, Sevilla, Spain

The mitoDdCBE system as a mitochondrial gene therapy approach

Jose Domingo Barrera-Paez¹, Sandra R. Bacman¹, Till Balla², Beverly Mok³, David Liu³, Danny Nedialkova², Carlos T. Moraes¹

1: University of Miami, United States of America; 2: Max Planck Institute of Biochemistry, Germany; 3: Broad Institute, Harvard University, and HHMI, United States of America

Genetic variants impact on NQO1 expression and activity driving efficacy of idebenone treatment in Leber’s hereditary optic neuropathy cell models

Valentina Del Dotto¹, Serena Jasmine Aleo¹, Martina Romagnoli², Claudio Fiorini², Giada Capirossi¹, Camille Peron³, Alessandra Maresca², Leonardo Caporali², Mariantonietta Capristo², Concetta Valentina Tropeano², Claudia Zanna¹, Anna Maria Porcelli⁴, Giulia Amore², Chiara La Morgia^1,2, Valeria Tiranti³, Valerio Carelli^1,2, Anna Maria Ghelli⁴

1: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 2: IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; 3: Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; 4: Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.

Peptide mimetic molecules as potential therapeutic agents against diseases related to mt-tRNA point mutations.

Annalinda Pisano¹, Luciana Mosca², Maria Gemma Pignataro¹, Veronica Morea³, Giulia d'Amati¹

1: Department of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, Italy; 2: Department of Biochemical Sciences "A. Rossi Fanelli, Sapienza University of Rome, Italy; 3: Institute of Molecular Biology and Pathology (IBPM), National Research Council (CNR) of Italy

Clinical trials for Leber hereditary optic neuropathy

Nancy J. Newman

Emory University School of Medicine, United States of America

Development of deoxynucleoside therapy for mitochondrial DNA depletion/deletions syndrome

Michio Hirano¹, Caterina Garone², Carlos López-Gomez³, Cristina Domínguez-Gónzalez⁴, Ramon Martí⁵, Agustin Hidalgo-Gutierrez¹

1: Columbia University Irving Medical Center, New York, USA, United States of America; 2: University of Bologna, Bologna, Italy; 3: Univerity of Malaga, Malaga, Spain; 4: University Hospital, 12 de Octubre, Madrid, Spain; 5: Vall d’Hebron Institut de Recerca, Barcelona, Spain

Histopathological and molecular characterization in ocular post-mortem analyses following AAV2 gene therapy for LHON

Valerio Carelli¹, Leonardo Caporali¹, Fred Ross-Cisneros², Elisa Boschetti³, Nancy J. Newman⁴, Valérie Biousse⁴, Henry Liu⁵, Philippe Ancian⁶, Magali Taiel⁷, Alfredo A. Sadun²

1: IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 2: Doheny Eye Institute, UCLA School of Medicine, Los Angeles, CA, USA; 3: IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; 4: Departments of Ophthalmology, Neurology and Neurological Surgery, Emory University School of Medicine, Atlanta, GA, USA; 5: Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada; 6: Charles River Laboratories, Evreux, France; 7: Gensight Biologics, Paris, France

Combatting myopathy in m.3243A>G mutation carriers: first in human transplantation of autologous mesoangioblasts

Florence H.J. van Tienen^1,2, Janneke G.J. Hoeijmakers^2,3, Christiaan van der Leij^4,5, Erika Timmer^1,5, Nikki Wanders^1,2, Fong Lin⁶, Susanne P.M. Kortekaas⁶, Inge M. Westra⁶, Pauline Meij⁶, Appie Wijnen⁷, Wouter M.A. Franssen⁸, Bert O. Eijnde⁸, Catharina G. Faber^2,3, Irenaeus F.M. de Coo^1,2,9, Hubert J.M. Smeets^1,2,5

1: Department of Toxicogenomics, Maastricht University Medical Centre+, Maastricht, The Netherlands; 2: School for Mental Health and Neurosciences (MHeNS), Maastricht University Medical Centre+, Maastricht, The Netherlands; 3: Department of Neurology, Maastricht University Medical Centre+, Maastricht, The Netherlands; 4: Department of Radiology, Maastricht University Medical Centre+, Maastricht, The Netherlands; 5: School for Developmental Biology and Oncology (GROW), Maastricht University Medical Centre+, Maastricht, The Netherlands; 6: Center for Cell and Gene Therapy (CCG), Leiden University Medical Center, Leiden, The Netherlands; 7: Department of Rehabilitation Medicine, Maastricht University Medical Centre+, Maastricht, The Netherlands; 8: SMRC – Sports Medicine Research Center, BIOMED - Biomedical Research Institute, Faculty of Medicine and Life Sciences, Hasselt University, Diepenbeek, Belgium; 9: Neuromuscular and Mitochondrial research center (NeMo), Rotterdam/Maastricht, The Netherlands

PHEMI: Phenylbutyrate Therapy in Mitochondrial Diseases with lactic acidosis: an open label clinical trial in MELAS and PDH deficiency patients.

Silvia Marchet¹, Anna Ardissone², Krisztina Einvag¹, Daniele Sala¹, Eleonora Lamantea¹, Giulia Cecchi³, Vincenzo Montano³, Piervito Lopriore³, Maria Pia Iermito¹, Michelangelo Mancuso³, Costanza Lamperti¹

1: Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Experimental Neuroscience, Unit of Medical Genetics and Neurogenetics, Milan, Italy; 2: Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Pediatric Neurosciences, Milan, Italy; 3: Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

Niacin treatment improves metabolic changes in early-stage mitochondrial myopathy

Kimmo Haimilahti^1,2, Lilli Pihlajamäki¹, Mari Auranen³, Niina Urho³, Päivi Piirilä⁴, Antti Hakkarainen⁵, Min Ni⁶, Kirsi Pietiläinen^7,8, Ralph DeBerardinis⁶, Nahid A. Khan¹, Anu Suomalainen^1,9

1: Research Program for Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 2: Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 3: Department of Neurosciences, Helsinki University Hospital, Helsinki, Finland; 4: Department of Clinical Physiology and Nuclear Medicine, Laboratory of Clinical Physiology, Helsinki University Hospital, Helsinki, Finland; 5: HUS Diagnostic Center, Radiology, Helsinki University and Helsinki University Hospital, Helsinki, Finland; 6: Children’s Research Institute, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America; 7: Obesity Research Unit, Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 8: Healthy Weight Hub, Abdominal Center, Endocrinology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland; 9: Helsinki University Hospital Diagnostic Centre, Helsinki, Finland

Use of lenadogene nolparvovec gene therapy for Leber hereditary optic neuropathy in early access programs

Chiara La Morgia¹, Catherine Vignal-Clermont², Valerio Carelli¹, Michele Carbonelli²³, Rabih Hage³, Mark L. Moster⁴, Robert C. Sergott⁴, Sean P. Donahue⁵, Patrick Yu-Wai-Man⁶, Hélène Dollfus⁷, Thomas Klopstock⁸, Claudia Priglinger⁹, Vasily Smirnov¹⁰, Giulia Amore²³, Martina Romagnoli¹, Catherine Cochard¹¹, Marie-Benedicte Rougier¹², Emilie Tournaire-Marques¹², Pierre Lebranchu¹³, Caroline Froment¹⁴, Frederic Pollet-Villard¹⁵, Marie-Alice Laville¹⁶, Claudia Prospero Ponce¹⁷, Scott D. Walter¹⁸, Francis Munier¹⁹, Pauline Zoppe²⁰, Michel Roux²¹, Magali Taiel²¹, José-Alain Sahel²²

1: IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 2: Department of Neuro Ophthalmology and Emergencies, Rothschild Foundation Hospital, Paris, France; 3: Centre Hospitalier National d’Ophtalmologie des Quinze Vingts, Paris, France; 4: Departments of Neurology and Ophthalmology, Wills Eye Hospital and Thomas Jefferson University, Philadelphia, PA, USA; 5: Department of Ophthalmology, Neurology, and Pediatrics, Vanderbilt University, and Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN, USA; 6: Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; 7: Institut de Génétique Médicale d’Alsace, CHU de Strasbourg, Strasbourg, France; 8: Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilians-University, Munich, Germany; 9: University Hospital, Ludwig-Maximilians-University, Munich, Germany; 10: Service Explorations de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France; 11: Service d'Ophtalmologie, CHU de Rennes, Rennes, France; 12: Service d'Ophtalmologie, CHU de Bordeaux, Groupe Hospitalier Pellegrin, Bordeaux, France; 13: Service d'Ophtalmologie, CHU de Nantes, Nantes, France; 14: Service de Neuro-Cognition et Neuro-Ophtalmologie, CHU de Lyon, Lyon, France; 15: Service d'Ophtalmologie, Centre Hospitalier de Valence, Valence, France; 16: Service d'Ophtalmologie, CHU de Caen, Caen, France; 17: Department of Ophthalmology, Blanton Eye Institute, Houston Methodist Hospital, Houston, Texas, USA; 18: Retina Consultants, P.C, Hartford, Connecticut, USA; 19: Service d'Ophtalmologie, Hôpital Ophtalmique Jules-Gonin, Lausanne, Switzerland; 20: Centre Hospitalier de Wallonie Picarde, Tournai, Belgium; 21: GenSight Biologics, Paris, France; 22: Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; 23: Department of Biomedical and Neuromotor Sciences, DIBINEM, Bologna, Italy

Mitochondrial replacement in action

Mary Herbert^1,2, Louise Hyslop², Yuko Takeda¹, Magomet Aushev¹, Meenakshi Choudhary², Jane Stewart²

1: Newcastle University, United Kingdom; 2: Newcastle Fertility Centre

The therapeutic potential of mitochondrial genome engineering

Michal Minczuk

MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK

MitoKO: A library of base editors for the precise ablation of all protein-coding genes in the mouse mitochondrial genome

Pedro Silva-Pinheiro, Christian D. Mutti, Lindsey Van Haute, Christopher A. Powell, Pavel A. Nash, Keira Turner, Michal Minczuk

MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK

Risk of mtDNA reversal among children born after mitochondrial replacement therapy

Shoukhrat Mitalipov¹, Nuria Marti Gutierrez²

1: Oregon Health & Science University, United States of America; 2: Center for Embryonic Cell and Gene Therapy, Oregon Health and Science University, United States of America

Specific elimination of m.3243A>G mutant mitochondria DNA using mitoARCUS

Wendy K. Shoop^1,2, Cassandra L. Gorsuch¹, Emma Sevigny¹, Sandra R. Bacman², Janel Lape¹, Jeff Smith¹, Derek Jantz¹, Carlos T. Moraes²

1: Precision BioSciences - Durham, NC, United States of America; 2: University of Miami - Miami, FL, United States of America

MitoCRISPR/Cas9 shifts mtDNA heteroplasmy not as effective as other site-specific nucleases.

Elvira Zakirova^1,2, Ilya Mazunin³, Elena Kiseleva², Ksenia Morozova^1,2, Konstantin Orishchenko^1,2

1: Novosibirsk State University, Novosibirsk, Russia; 2: Institute of Cytology and Genetics SB RAS, Novosibirsk, Russia; 3: Skolkovo Institute of Science and Technology, Moscow, Russia

Prenatal diagnostics for a family with 13513G>A mtDNA mutation associated with Leigh Syndrome

Crystal M Van Dyken¹, Amy Koski¹, Hong Ma¹, Nuria Marti Gutierrez¹, Aleksei Mikhalchenko¹, Rebecca Tippner-Hedges¹, Daniel Frana¹, Paula Amato², Shoukhrat Mitalipov¹

1: Center for Embryonic Cell and Gene Therapy, Oregon Health and Science University, United States of America; 2: Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology, Oregon Health and Science University, United States of America

Precision Medicine Applied to Leigh Syndrome: development of an In Utero fetal gene therapy approach

Alessia Di Donfrancesco¹, Anastasia Giri², Simona Boito², Ivano Di Meo¹, Alessia Adelizzi¹, Carlo Viscomi³, Massimo Zeviani⁴, Valeria Tiranti¹, Roberto Duchi⁵, Cesare Galli⁵, Nicola Persico², Dario Brunetti^1,6

1: Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Italy; 2: Fetal Medicine and Surgery Service, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; 3: Department of Biomedical Sciences, University of Padova, Italy; 4: Department of Neurosciences, University of Padova, Italy; 5: Laboratorio di Tecnologie della Riproduzione, Avantea, Cremona, Italy; 6: Department of Medical Biotechnology and Translational Medicine, University of Milan, Italy

AAV-based liver-targeted gene therapy for MNGIE: proposal for a clinical trial

Jelle van den Ameele^1,2, Emma Cutting², Ramon Marti³

1: MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK; 2: Department of Clinical Neuroscience, University of Cambridge, Cambridge, UK; 3: Vall d’Hebron Research Institute, Universitat Autònoma de Barcelona, and Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Catalonia

Experimental model for studying clinical variability of Thymidine Kinase 2 deficiency with induced pluripotent stem cells

Erika Santi¹, Sara Resciniti¹, Gaia Tioli², Sara Carli¹, Flavia Palombo³, Luisa Iommarini², Caterina Garone^1,4

1: Alma Mater Studiorum University of Bologna, Department of Medical and Surgical Sciences, Bologna, Italy; 2: Alma Mater Studiorum University of Bologna, University of Bologna, Department of Pharmacy and Biotechnology, Bologna, Italy; 3: IRCCS Istituto delle Scienze Neurologiche, Programma di Neurogenetica, Bologna, Italy; 4: IRCCS Istituto delle Scienze Neurologiche, UOC Neuropsichiatia dell'età pediatrica, Bologna, Italy

Mitochondrial genome variability in COVID-19 patients

Alessia Fiorentino¹, Claudio Fiorini¹, Danara Ormandekova¹, Alessandro Mattiaccio², Paola Dimartino², Edoardo Spagnolo², Orchestra Genomics Group¹, Maddalena Giannella³, Pierluigi Viale³, Zaira R. Palacios-Baena⁴, Tommaso Pippucci⁵, Marco Seri^2,5, Leonardo Caporali⁶, Valerio Carelli^1,6

1: Azienda USL di Bologna - IRCCS Istituto delle scienze Neurologiche di Bologna, Italy, Italy; 2: Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, BO, Italy; 3: Infectious Diseases Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; 4: Unit of Infectious Diseases and Clinical Microbiology, University Hospital Virgen Macarena, Institute of Biomedicine of Seville (IBIS)/CSIC, Seville, Spain; 5: Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; 6: Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy

Decoding the role of optic atrophy1 (OPA1) non-synonymous single nucleotide polymorphisms in mitochondrial DNA maintenance defects

Cuckoo Teresa Jetto, Vissapragada Madhuri, Ritoprova Sen, Ravi Manjithaya

Jawaharlal Nehru Centre for Advanced Scientific Research, India

Feasibility, safety, and efficacy of Ketogenic Diet in patients with mitochondrial myopathy

Heidi. E.E. Zweers^1,2, Sophie H. Kroesen³, Gijsje Beerlink^1,2, Elke Buit^2,4, Karlijn Gerrits^1,2, Astrid Dorhout^1,2, Annemiek M.J. van Wegberg^1,2, Mirian C.H. Janssen^2,4, Saskia B. Wortmann^2,5, Silvie Timmers⁶, Christiaan Saris^2,7

1: Department of Gastroenterology and Hepatology-Dietetics, Radboudumc, Nijmegen, The Netherlands; 2: Radboud Centre for Mitochondrial Medicine (RCMM) , Nijmegen, The Netherlands; 3: Department of Physiology, Radboudumc, Nijmegen, The Netherlands; 4: Department of Internal Medicine, Radboudumc, Nijmegen, The Netherlands; 5: University Children’s Hospital, Paracelsus Medical University, Salzburg, Austria; 6: Human and Animal Physiology, Wageningen University, The Netherlands; 7: Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands

Degrading factors of mitoribosome quality control and their mitigation of translation-induced stress

Jonathan Meyrick¹, Uwe Richter^1,2, Ana Andjelkovic¹, Omid Safronov², Rob Taylor¹

1: Wellcome Centre for Mitochondrial Research, United Kingdom; 2: University of Helsinki

Mitochondrial DNA Double-Strand Breaks lead to the formation of mtDNA deletions which are increased by MgmeI knockout in vivo.

Tania Arguello-Saenz, Nadee Nissanka, Carlos Moraes

University of Miami, United States of America

Mutating the binding interphases of SLIRP and LRPPRC uncover specific roles for these proteins in optimizing mitochondrial translation.

Diana Rubalcava-Gracia¹, Fredrik Levander², Camilla Koolmeister¹, Nils-Göran Larsson¹

1: Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden; 2: National Bioinformatics Infrastructure Sweden (NBIS), Science for Life Laboratory, Lund University, Lund 223 87, Sweden

A disease-causing mutation (p.F907I) reveals a novel pathogenic mechanism for POLG-related diseases.

Bertil Macao¹, Direnis Erdinc¹, Sebastian Valenzuela¹, Nicole Lesko², Karin Naess², Helene Bruhn², Anna Wedell², Anna Wredenberg³, Maria Falkenberg¹

1: University of Gothenburg, Sweden; 2: Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; 3: Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden

Mitoribosome intrinsic GTPase mS29 acts as a non-canonical molecular switch to facilitate mitochondrial translation

Samuel Louis Del'Olio¹, Vivek Singh², Alexey Amunts², Antoni Barrientos¹

1: University of Miami, United States of America; 2: Stockholm University, Sweden

Nucleoside supplementation in a zebrafish model of RRM2B mitochondrial DNA depletion syndrome alleviates disease associated symptoms.

Benjamin Munro, Declan Hines, Juliane Müller, Rita Horvath

Department of Clinical Neurosciences, University of Cambridge, United Kingdom

Non-stop mRNAs generate a ground state of mitochondrial gene expression noise

Guleycan Lutfullahoglu Bal, Brendan J. Battersby

Institute of Biotechnolgy, University of Helsinki, Finland

Biochemical characterisation of pathological TOP3A variants associated with adult-onset mitochondrial disease

Alejandro Rodriguez Luis^2,3, Direnis Erdinc¹, Mahmoud R. Fassad^2,4, Sarah Mackenzie⁵, Christopher M. Watson^6,7, Sebastian Valenzuela¹, Xie Xie¹, Katja E. Menger^2,3, Kate Sergeant⁸, Kate Craig^2,9, Sila Hopton^2,9, Gavin Falkous^2,9, Joanna Poulton¹⁰, Hector Garcia-Moreno¹¹, Paola Giunti¹¹, Carlos A. de Moura Aschoff¹², Jonas A. Morales Saute^12,13,14, Amelia J. Kirby¹⁵, Camilo Toro¹⁶, Lynne Wolfe¹⁶, Danica Novacic¹⁶, Lior Greenbaum^17,18,19, Aviva Eliyahu^17,19, Ortal Barel²⁰, Yair Anikster^19,21, Robert McFarland^2,4, Gráinne S. Gorman^2,4, Andrew M. Schaefer^2,9, Claes M. Gustafsson^1,22, Robert W. Taylor^2,4,9, Maria Falkenberg¹, Thomas J. Nicholls^2,3

1: Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden; 2: Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne; 3: Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne; 4: Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne; 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; 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; 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, 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.

How hot can mitochondria be? Incubation at temperatures above 43 ºC induces the degradation of respiratory complexes and supercomplexes in intact cells and isolated mitochondria

Raquel Moreno-Loshuertos^1,2, Joaquín Marco-Brualla^1,3, Patricia Meade^1,2, Ruth Soler-Agesta¹, José Antonio Enriquez^4,5, Patricio Fernández-Silva^1,2

1: Department of Biochemistry and Molecualr and Cellular Biology, Universidad de Zaragoza, Spain; 2: Institute for Biocomputation and Physics of Complex Systems (BIFI), Zaragoza, Spain; 3: Peaches Biotech Group, Madrid, Spain; 4: Fundación Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain; 5: Centro de Investigaciones Biomédicas en Red en Fragilidad y Envejecimiento Saludable, Madrid, Spain

Inhibition of mitochondrial protein Synthesis induces Biosynthesis of oxidative phosphorylation Complex V

Seungtae Lee, Jana Aref, Jan-Willem Taanman

University College London, United Kingdom

Linear DNA driven recombination in human mitochondria.

Georgios Fragkoulis¹, Anu Hangas¹, Craig Mitchel², Carlos Moraes³, Smaranda Wilcox⁴, Jack Griffiths⁴, Steffi Goffart¹, Jaakko Pohjoismäki¹

1: University of Eastern Finland, Finland; 2: King Abdullah University of Science and Technology (KAUST); 3: University of Miami Miller School of Medicine; 4: University of North Carolina at Chapel Hill

Mitochondrial Topoisomerase 1 in ribonucleotide removal and mtDNA stability

Cyrielle Bader, Erika Kasho, Josefin M. E. Forslund, Katarzina Niedzwiecka, Paulina H. Wanrooij

Umeå University, Sweden

The (in)fidelity of human mitochondrial gene expression

Brendan James Battersby

University of Helsinki, Finland

The role of mitochondrial RNA polymerase in mtDNA replication priming

Georgios Fragkoulis, Anu Hangas, Steffi Goffart

University of Eastern Finland, Finland

Mitochondrial content is significantly reduced during the early stages of human pluripotent stem cell differentiation

Ruben Torregrosa-Muñumer, Jeremi Turkia, Jana Pennonen, Erika Rannila, Jonna Saarimäki-Vire, Timo Otonkoski, Henna Tyynismaa

University of Helsinki, Finland

Loss of RNase H1 in early B cell development induces mitochondrial-based dysfunction

Robert Joseph Crouch¹, Kiran Sakhuja¹, Caitlin Darling¹, Lionel Sanz¹, Hyongi Chon¹, Stella R Hartono², James Iben¹, Louis Dye¹, Susana Martinez Cerritelli¹, Frederic Chedin²

1: DIR Eunice Kennedy Shriver National Institute of Child Health and Human Devlopment; 2: Department of Molecular and Cellular Biology, University of Califofnia, Davis

New insights into late-maturation steps of the human mitochondrial small ribosomal subunit

Marleen Heinrichs^1,2, Anna Franziska Finke¹, Hauke Hillen^1,2, Ricarda Richter-Dennerlein^1,2

1: Department of Cellular Biochemistry, University Medical Center Goettingen, Goettingen, Germany; 2: Cluster of Excellence “Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells” (MBExC), University of Goettingen, Goettingen, Germany

Early-stages during large mitoribosomal subunit assembly

Venkatapathi Challa¹, Elena Lavdovskaia^1,2, Paula Prado¹, Hauke Hillen^1,2, Ricarda Richter-Dennerlein^1,2

1: University Medical Center Göttingen, Germany; 2: Cluster of Excellence (MBExC), University of Göttingen, Germany

Effect of post-transcriptional modifications of tRNAMet on mitochondrial codon recognition

Gantavya Arora, Kärt Denks, Ekaterina Samatova, Marina Rodnina

Max Planck Institute of Multidisciplinary Sciences, Göttingen, Germany

Establishing the OPA1 role in the mtDNA maintenance in cell models of Dominant Optic Atrophy (DOA)

Penelope Magnoni¹, Serena Jasmine Aleo², Valentina Del Dotto², Javier Ramón³, Claudia Zanna², Ramon Martí³, Alessandra Maresca¹, Valerio Carelli^1,2

1: IRCCS, Istituto delle Scienze Neurologiche di Bologna, Italy - Programma di Neurogenetica; 2: DIBINEM, Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Italy; 3: Vall d'Hebron Research Institute, Centro de Investigación Biomédica en Red de Enfermedades Raras-CIBERER, Autonomous University of Barcelona, Barcelona, Spain

Mutations affecting the relation between mtDNA synthesis and proofreading by POLγ

Sebastian Valenzuela, Emily Hoberg, Giorgia Ortolani, Ulrika Alexandersson, Bertil Macao, Maria Falkenberg

Department of Medical Biochemistry and Cell Biology, University of Gothenburg, P.O. Box 440, SE-405 30 Gothenburg, Sweden

Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation

Taru Hilander¹, Geoffray Monteuuis², Ryan Awadhpersad², Krystyna L. Broda¹, Max Pohjanpelto³, Elizabeth Pyman¹, Sachin K. Singh⁴, Tuula A. Nyman⁴, Isabelle Crevel⁵, Robert W. Taylor^6,7, Ann Saada⁸, Diego Balboa^9,10, Brendan J. Battersby¹¹, Christopher B. Jackson², Christopher J. Carroll¹

1: Genetics Section, Molecular and Clinical Sciences, St George’s, University of London, London, United Kingdom; 2: Department of Biochemistry and Developmental Biology, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 3: Research Programs Unit, Molecular Neurology, Biomedicum, University of Helsinki, • Helsinki, Finland; 4: Department of Immunology, Institute of Clinical Medicine, University of Oslo and Oslo, University Hospital, Oslo, Norway; 5: Core Facilities, St George’s, University of London, London, United Kingdom.; 6: Wellcome Centre for Mitochondrial Research, Translational and Clinical Research • Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; 7: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; 8: Department of Genetics, Hadassah Medical Center & Faculty of Medicine, Hebrew University of Jerusalem. 9112001 Jerusalem Israel.; 9: Bioinformatics and Genomics Program, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain; 10: Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Barcelona, Spain; 11: Institute of Biotechnology, University of Helsinki, Helsinki, Finland

The role of mL45 N-terminus in mitochondrial translation under standard and stress conditions

Eva Nyvltova, Katerina Percy, Michele Brischigliaro, Antonio Barrientos

Department of Neurology, University of Miami, Miller School of Medicine, FL, USA

Characterization of human mitochondrial translation elongation and ribosome recycling factors mtEFG1 and mtEFG2

Céline Bail, Kärt Denks, Shreya A. Ayyub, Marina V. Rodnina

Max-Planck Institute for Multidisciplinary Sciences, Germany

Knock-out of OGG1 in HEK293 cells does not alter the formation of single strand breaks in mitochondrial DNA upon H2O2 treatment

Afaf M. Said¹, Gábor Zsurka^1,2, Genevieve Trombly¹, Wolfram S. Kunz^1,2

1: Institute of Experimental Epileptology and Cognition Research, University of Bonn, Germany; 2: Department of Epileptology, University Hospital Bonn, Germany

Ligase 3 is indispensable for repair of oxidative lesions of mtDNA but dispensable for circular genome end ligation

Wolfram S. Kunz, Genevieve Trombly, Afaf Milad Said, Alexei P. Kudin, Gábor Zsurka

University Bonn, Department of Epileptology, Germany

Modulation of mtDNA heteroplasmy through endosomal-mitophagy

Aylin Gökmen^1,2, Mari Bonse^1,2, Parisa Kakanj³, Rudolf Wiesner^1,2, David Pla-Martín^1,2

1: Institute of Physiology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany; 2: Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany; 3: Institute of Genetics, University of Cologne, Germany

The role of mitoSAM in mitochondrial gene expression

Ruth Inge Carlton Glasgow¹, Florian Rosenberger², Vivek Singh¹, Alissa Willhalm³, David Moore¹, Marco Moedas^1,4, Miriam Cipullo¹, Joanna Rorbach¹, Anna Wedell⁴, Ilian Atanassov⁵, Alexey Amunts³, Christoph Freyer¹, Anna Wredenberg^1,4

1: Division of Molecular Metabolism, Karolinska Institutet, Stockholm, Sweden; 2: Max Planck Institute of Biochemistry, Munich, Germany; 3: Science for Life Laboratory, Department of Biochemistry and Biophysics, Stockholm University, Sweden; 4: Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; 5: Proteomics Core Facility, Max Planck Institute for Biology of Ageing, Cologne, Germany

The slumbering mitochondrion awakes: monitoring mitochondrial gene expression during oocyte and early embryo development

Olga Gumenyuk^1,2, Mary Herbert¹, Robert N. Lightowlers², Zofia M. A. Chrzanowska-Lightowlers²

1: Newcastle Fertility Centre, International Centre for Life, Newcastle upon Tyne, NE1 3BZ, United Kingdom; 2: Wellcome Centre for Mitochondrial Research, Newcastle University Biosciences Institute, Newcastle upon Tyne, NE2 4HH, United Kingdom

How mitochondrial DNA metabolism shapes cellular senescence

Valentin L'Hôte, Sjoerd Wanrooij

Department of Medical Biochemistry and Biophysics, Umeå University, Umeå 90736, Sweden

Processing of stalled replication forks in mitochondria

Koit Aasumets, Jaakko Pohjoismäki, Steffi Goffart

University of Eastern Finland, Finland

Stochastic survival of the densest accounts for the expansion of mitochondrial mutations in the ageing of skeletal muscle fibres

Ferdinando Insalata¹, Hanne Hoitzing¹, Juvid Aryaman¹, Nick Jones^1,2

1: Department of Mathematics, Imperial College London, United Kingdom; 2: EPSRC Centre for the Mathematics of Precision Healthcare, Imperial College London, United Kingdom

Top3α is the replicative topoisomerase in mitochondrial DNA replication

Anu Hangas¹, Alisa Potter^1,2, Craig Michell¹, Johannes Spelbrink², Jaakko Pohjoismäki¹, Steffi Goffart¹

1: University of Eastern Finland, Finland; 2: Radboud Center for Mitochondrial Medicine, Department of Paediatrics, Radboudumc, Nijmegen, The Netherlands

Mitochondrial-nuclear compatibility in hare cybrids

Riikka Pauliina Tapanainen¹, Jaakko Pohjoismäki¹, Kateryna Gaertner², Eric Dufour², Craig Michell¹, Sina Saari²

1: University of Eastern Finland, Finland; 2: Tampere University, Finland

Identification of drugs for the treatment of POLG-related diseases by means of a high throughput drug repurposing approach performed in Saccharomyces cerevisiae

Enrico Baruffini¹, Tiziana Lodi¹, Raquel Brañas Casas², Giovanni Risato², Francesco Argenton², Natascia Tiso², Alexandru Ionut Gilea¹

1: Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy; 2: Department of Biology, University of Padova, Padova, Italy

Mitochondrial genome replacement can rejuvenate aging cells

Toshihiko Taya, Akira Shikuma, Ryotaro Maeda, Daisuke Kami, Satoshi Gojo

Kyoto prefectural University of Medicine, Japan

Project pearl: raising the profile of mitochondrial disease

Lyndsey Butterworth, Renae Stefanetti, Julie Murphy, Amanda Temby, Grainne Gorman

Wellcome Centre for Mitochondrial Research, Newcastle University, United Kingdom

Innovative technology for regulating mitochondrial function in host cells

Yuma Yamada^1,2, Momo Ito¹, Mitsue Hibino^1,3, Daisuke Sasaki⁴, Hideyoshi Harashima¹

1: Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan; 2: FOREST Program, Japan Science and Technology Agency Japan, Saitama, Japan; 3: Faculty of Engineering, Hokkaido University, Sapporo, Japan; 4: Department of Pediatrics, Graduate School of Medicine, Hokkaido University, Sapporo, Japan

CNS gene therapy in a mouse model of complex I encephalopathy

Brittni Rae Walker, Milena Pinto, Lise-Michelle Theard, Sandra R Bacman, Carlos T Moraes

University of Miami, United States of America

Strategies for fighting mitochondrial diseases: AAV-based gene therapy

Samantha Corra'^1,2, Raffaele Cerutti^1,2, Valeria Balmaceda^1,3, Carlo Viscomi^1,3, Massimo Zeviani^1,2

1: Venetian Institute of Molecular Medicine, Padova; 2: Department of Neuroscience, University of Padova; 3: Department of Biomedical Sciences, University of Padova

Cannabidiol ameliorates mitochondrial disease via PPARgamma activation

Emma Puighermanal¹, Marta Luna¹, Andrea Urpi¹, Patrizia Bianchi¹, Isabella Appiah¹, Laura Rodríguez-Pascau², Fabien Menardy¹, Alex Gella¹, Paula Tena-Morraja³, Mariona Alberola⁴, Maria Helena de Donato¹, Gunter van der Walt¹, Marc Martinell², Elisenda Sanz¹, Francesc Soriano³, Pilar Pizcueta², Albert Quintana¹

1: Neuroscience Institute, Autonomous University of Barcelona, Bellaterra, Spain; 2: Minoryx Therapeutics SL, Barcelona, Spain; 3: Celltec-UB, Departament de Biologia Cellular, Fisiologia i Immunologia, Universitat de Barcelona, Barcelona, Spain; 4: CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain

Sonlicromanol improves phenotypic changes in models of Selenoprotein N-related myopathies

Herma Renkema¹, Marnix Gorissen³, Julien Beyrath¹, Gert Flik³, Jeroen Schoorl³, Xin Li¹, Bas Pennings¹, Svetlana Pecheritsyna¹, Karlijn Bouman⁴, Nicol Voermans⁴, Ulrike Schara-Schmidt⁵, Jan Smeitink^1,2

1: Khondrion, Nijmegen, The Netherlands; 2: Department of Pediatrics, RCMM, RadboudUMC, Nijmegen, The Netherlands; 3: Radboud University, Radboud Institute for Biological and Environmental Sciences, Cluster Ecology & Physiology, Department of Animal Physiology, Nijmegen, The Netherlands; 4: Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; 5: Department of Pediatric Neurology, Centre of neuromuscular disorders in children and adolescents, University Clinic Essen, University of Duisburg-Essen, Germany

Therapeutic interventions to regulate the Q-junction, 1C metabolism and the neuroinflammatory response.

Pilar González-García¹, Mª Elena Díaz-Casado¹, Agustín Hidalgo-Gutiérrez¹, Laura Jiménez-Sánchez², Eliana Barriocanal-Casado¹, Luis C López¹

1: Physiology Department, Biomedical Research Center, University of Granada, Spain; 2: Ibs. Granada, Granada, Spain

Yeast as a model for searching drugs against pathologies caused by mutations in ACO2

Alexandru Ionut Gilea¹, Sonia Figuccia¹, Camilla Ceccatelli Berti¹, Claudio Fiorini², Valerio Carelli^2,3, Leonardo Caporali³, Enrico Baruffini¹

1: Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy; 2: IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, Bologna, Italy; 3: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna

MiR-181a/b modulation as a potential therapeutic approach for Stargardt disease treatment

Simona Brillante^1,2, Anna Diana¹, Volpe Mariagrazia¹, Eva Cipollaro¹, Marta Molinari^1,2, Carla Damiano^1,3, Antonietta Tarallo^1,3, Sandro Banfi^1,4, Sabrina Carrella⁵, Alessia Indrieri^1,2

1: Telethon Institute of Genetics and Medicine,Italy; 2: Institute for Genetic and Biomedical Research, CNR, Italy; 3: Department of Translational Medical Science Federico II University of Naples, Italy; 4: University of Campania Luigi Vanvitelli, Italy; 5: Ecosustainable Marine Biotechnology Department, Stazione Zoologica Anton Dohrn, Italy

MitoTALEN reduces mutant mtDNA load in the mouse CNS

Sandra R Bacman¹, Jose Domingo Barrera-Paez¹, Milena Pinto¹, James B Stewart², Carlos T Moraes¹

1: Department of Neurology, University of Miami Miller School of Medicine, Miami USA; 2: Wellcome Centre for Mitochondrial Research, Biosciences Institute, Newcastle University, Newcastle UK

Phosphodiesterase 5 inhibitors (PDE5i) as a promising treatment for MT-ATP6 associated mater-nally inherited Leigh Syndrome (MILS)

Marie-Thérèse Henke¹, Annika Zink², Annika Wittich³, Sonja Heiduschka², Giulia Pedrotti⁴, Undine Haferkamp³, Dario Brunetti⁵, Caleb Jerred², Thomas Klopstock⁶, Felix Distelmaier², Chiara La Morgia⁷, Valerio Carelli⁷, Fabian Schumacher⁸, Emanuela Bottani⁴, Ole Pless³, Markus Schuelke¹, Alessandro Prigione²

1: Charité-Universitätsmedizin Berlin, Department of Neuropediatrics, Berlin, Germany; 2: Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich Heine Universi-ty, Düsseldorf, Germany; 3: Fraunhofer Institute for Translational Medicine and Pharmacology ITMP, ScreeningPort, Hamburg, Germany; 4: University of Verona, Italy; 5: Fondazione IRCCS Instituto Neurologico "C. Besta", Milano, Italy; 6: Ludwig Maximilians University (LMU), München, Germany; 7: University of Bologna, Italy; 8: Freie Universität Berlin, Germany

The effect of mitochondrial NMNAT3 overexpression on Alzheimer’s related proteinopathies

Milena Pinto, Carlos Moraes

University of Miami, United States of America

In vitro models to test modulators of cellular NAD+ levels

Shanti Lu-Nath¹, Micol Falabella¹, Yidi Zhang¹, Manal E. Alkahtani², Mine Orlu², Robert D. S. Pitceathly^1,3

1: Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK; 2: UCL School of Pharmacy, UCL, London, UK; 3: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK

Novel small molecule improves mitochondrial function and mitophagy in a complex III deficiency model.

Cristiane Beninca¹, Lucia Fernández del Rio¹, Matheus Pinto Oliveira¹, Karel Erion², David Rincon Fernandez Pacheco⁵, Jasmine Garza², Mathew Dugan², Sophie Kantor¹, Kathleen Rodgers³, Kevin Gaffney², Amy Wang², Marc Liesa-Roig^1,4, Orian Shirihai¹

1: Department of Medicine, Division of Endocrinology, David Geffen School of Medicine, Los Angeles, USA.; 2: Capacity Bio, Los Angeles, USA; 3: Department of Pharmacology, Center for Innovations in Brain Science, University of Arizona, USA; 4: Institut de Biologia Molecular De Barcelona (IBMB-CSIC), Spain.; 5: Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, USA

Preservation of bioenergetics and inhibition of ferroptosis with the novel compound SBT-588 in Friedreich’s Ataxia cell models

Laura Elizabeth Kropp, Alyssa Handler, Hatim Zariwala, Yunmi Park, Martin Redmon, David A. Brown

Stealth BioTherapeutics, Needham, MA, United States of America

The use of a coenzyme Q10 encapsulated mitochondrial targeting lipid nanoparticle formulation has therapeutic effects on a drug-induced liver injury.

Mitsue Hibino^1,2, Masatoshi Maeki², Manabu Tokeshi², Hideyoshi Harashima¹, Yuma Yamada^1,3

1: Faculty of Pharmaceutical Sciences, Hokkaido University, Japan; 2: Faculty of Engineering, Hokkaido University, Japan; 3: Fusion Oriented REsearch for disruptive Science and Technology (FOREST) Program, Japan Science and Technology Agency (JST) Japan, Saitama, Japan

In vitro 3D model of mitochondrial myopathy human skeletal muscle

Valeria Di Leo^1,2, Xiomara Fernández-Garibay³, Ainoa Tejedera³, Javier Ramón-Azcón³, Gráinne Gorman^1,4, Oliver Russell^1,2, Amy Vincent^1,2, Juanma Fernández-Costa³

1: Wellcome Centre for Mitochondrial Research, Medical School, Newcastle University, United Kingdom; 2: Translational and Clinical Research Institute, Newcastle University, United Kingdom; 3: Institute for Bioengineering of Catalonia, The Barcelona Institute of Science and Technology, Barcelona, Spain; 4: NHS Highly Specialised Service for Rare Mitochondrial Disorders, Royal Victoria Infirmary

Metabolic consequences for NAD+ and N- Acetyl cysteine treatment on Mitochondrial myopathy

Nahid Khan¹, Liliya Euro¹, Kimmo Haimilahti¹, Eija Pirinen², Min Ni⁴, Johan Auwerx³, Ralph DeBerardinis⁴, Anu Suomalainen^1,5

1: STEMM, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland; 2: Diabetes and Obesity Research Unit, Research Programs Unit, University of Helsinki, FIN-00290 Helsinki, Finland; 3: Laboratory of Integrative Systems Physiology, École polytechnique fédérale de Lausanne, Lausanne, Switzerland; 4: Children’s Research Institute, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America; 5: Helsinki University Hospital Diagnostic Centre, Helsinki 00260, Finland

Silencing the aberrant Coq9 mRNA in the Coq9R239X model normalizes complex Q and restores the mitochondrial phenotype.

Pilar González-García^1,2, Julio Ruiz-Travé¹, Celia Roldán-Lozano¹, Juan M. Martínez-Gálvez^1,3, Eliana Barriocanal-Casado¹, Luis C. López^1,2, Laura Jiménez-Sánchez²

1: Physiology Department, Biomedical Research Center, University of Granada, Granada, Spain; 2: Ibs.Granada, Spain; 3: Biofisika Institute (CSIC,UPV-EHU) and Department of Biochemistry and Molecular Biology, University of Basque Country, Leioa, Spain

A high-content in vitro screening to identify new mitophagy-activating compounds

Giacomo Giacchin¹, Valeria Balmaceda¹, Cristiane Benincá^2,3, Carlo Viscomi¹

1: Department of Biomedical Sciences, University of Padova, Italy; 2: Department of Medicine, Endocrinology, David Geffen School of Medicine, University of California, Los Angeles, USA; 3: Metabolism Theme, David Geffen School of Medicine, University of California, Los Angeles, USA

B-RA targets mitochondria in white adipose tissue and reverses diet-induced obesity

Elena Díaz Casado^1,2, Sergio López Herrador¹, Pilar González García^1,2, Laura Jiménez Sánchez², Sara Torres Rusillo¹, Agustín Hidalgo Gutiérrez¹, Luis Carlos López^1,2

1: Physiology Department, Biomedical Research Center, University of Granada, Granada, Spain; 2: Ibs. Granada, Granada, Spain

HIF1α is a potentially druggable target for MNGIE disease

Silvia Sabeni, Sara Carli, Francesca Ferraresi, Caterina Garone

Alma Mater Studiorum University of Bologna, Italy

Mitochondrial modulation with Leriglitazone as a potential treatment for Rett syndrome

Uliana Musokhranova, Alfonso Oyarzábal, Cristina Grau, Àngels García Cazorla

Institut de Recerca Sant Joan de Déu, Spain

New nutritional therapies for mitochondrial diseases

Borja Fernández García¹, Marcello Bellusci^1,2,4,7,, Jesús González de la Aleja⁶, Montserrat Morales Conejo^1,2,5,7, Elena Martín Hernández^1,2,4,7, Pilar Quijada Fraile^1,2,4,7, Delia Barrio Carreras^4,7, María Paz Guerrero Molina⁶, Joaquín Arenas^1,2, Miguel A Martín^1,2,3, María Morán^1,2

1: Mitochondrial and Neuromuscular Diseases Laboratory, Instituto de Investigación Sanitaria Hospital ‘12 de Octubre’ (‘imas12’), Madrid, Spain; 2: Spanish Network for Biomedical Research in Rare Diseases (CIBERER), U723, Spain; 3: Servicio de Genética, Hospital Universitario ‘12 de Octubre’, Madrid, Spain.; 4: Unidad Pediátrica de Enfermedades Raras, Hospital Universitario ‘12 de Octubre’, Madrid, Spain.; 5: Servicio de Medicina Interna, Hospital Universitario ‘12 de Octubre’, Madrid, Spain; 6: Servicio de Neurología, Hospital Universitario ‘12 de Octubre’, Madrid, Spain; 7: Centro Nacional de Referencia para Errores Congénitos del Metabolismo (CSUR) y Centro Europeo de Referencia para Enfermedades Metabólica Hereditarias (MetabERN), Madrid, Spain

Pyrroloquinoline quinone exerts neuroprotective effects on retinal ganglion cell degeneration

Alessio Canovai^1,2, James R Tribble¹, Melissa Jöe¹, Rosario Amato², Maurizio Cammalleri², Massimo Dal Monte², Pete A Williams¹

1: Department of Clinical Neuroscience, Division of Eye and Vision, St. Erik Eye Hospital, Karolinska Institutet, Stockholm, Sweden; 2: Department of Biology, University of Pisa, Pisa, Italy

Quinone compounds in primary mitochondrial disease: acute metabolic effects in human-derived cells in vitro

Shilan Alsaied¹, Shusuke Sekine^1,2, Irene Yee¹, Imen Chamkha^1,3, Sonia Simón Serrano^1,3, Eleonor Åsander Frostner^1,3, Magnus J. Hansson^1,3, Eskil Elmér^1,3

1: Mitochondrial Medicine, Department of Clinical Sciences, Lund University, Lund, Sweden; 2: Department of Anesthesiology, Tokyo Medical University, Tokyo 160-0023, Japan; 3: Abliva AB, Lund, Sweden

A novel therapeutic strategy for mitochondrial Leigh Syndrome

Ritsuko Nakai¹, Henyun Shi¹, Hisashi Ohta², Rick Tsai², Masashi Suganuma², Nicholas Borcherding³, Jonathan R Brestoff³, Takafumi Yokota^1,4

1: Department of Hematology and Oncology, Graduate School of Medicine, Osaka University, Osaka, Japan.; 2: Luca Science Inc., Tokyo, Japan.; 3: Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA.; 4: Department of Hematology, Osaka International Cancer Institute, Osaka, Japan.

Generation of a new neuronal model of Friedreich’s Ataxia and establishment of a drug screening strategy

Olivier Griso¹, Amélie Weiss¹, Deepika Mokkachamy Chellapandi², Hélène Puccio^1,2

1: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS UMR7104, Université de Strasbourg, France; 2: Institut NeuroMyoGene, UMR5261, INSERM U1315, Université Claude Bernard Lyon I Faculté de médecine, Lyon, France

Downregulation of miR-181a/b ameliorates the Leigh syndrome phenotype in Ndufs4 KO mice

Mariagrazia Volpe^1,2, Simona Brillante^1,3, Roberta Tammaro¹, Mariateresa Pizzo¹, Alessandra Spaziano¹, Sara Barbato¹, Maria De Risi¹, Sabrina Carrella⁴, Elvira De Leonibus^1,5, Sandro Banfi^1,6, Brunella Franco^1,7, Alessia Indrieri^1,3

1: Telethon Institute of Genetics and Medicine, Telethon Foundation, Pozzuoli (NA), Italy; 2: European School of Molecular Medicine (SEMM); 3: Institute for Genetic and Biomedical Research (IRGB), National Research Council (CNR), Milan, Italy; 4: Ecosustainable Marine Biotechnology Department, Stazione Zoologica Anton Dohrn, Naples, Italy; 5: Institute of Biochemistry and Cellular Biology (IBBC), National Research Council (CNR), Monterotondo (RM), Italy; 6: Dep. of Precision Medicine, University of Campania "L. Vanvitelli", Caserta, Italy; 7: Dep. of Translational Medicine, University of Naples "Federico II", Naples, Italy

Succinate does not increase reactive oxygen species generation in phosphorylating human mitochondria

Irene Yee¹, Alina Lenzer¹, Shusuke Sekine^1,2, Tianshi Liu¹, Imen Chamkha^1,3, Eskil Elmér^1,3, Johannes Ehinger^1,4

1: Mitochondrial Medicine, Department of Clinical Sciences, Lund University, Lund, Sweden; 2: Department of Anesthesiology, Tokyo Medical University, Tokyo, Japan; 3: Abliva, AB, Lund, Sweden; 4: Otorhinolaryngology Head and Neck Surgery, Department of Clinical Sciences, Lund University, Skåne University Hospital, Lund, Sweden

Disease modeling and drug screening of mitochondrial complex I disorders: From Podospora anserina to Human

Nolwenn Bounaix¹, Jérémy Richard¹, Olivier Baris¹, Naïg Gueguen¹, Valérie Desquiret-Dumas¹, Arnaud Chevrollier¹, Céline Bris¹, Aurélie Renaud¹, Yann Bausan¹, Laurent Monassier², Guillaume Becker², Estelle Ayme Dietrich², Marc-Alexandre Delia³, Audrey Di Giorgio³, Dominique Bonneau¹, Pascal Reynier¹, Guy Lenaers¹, Stépahne Azoulay³, Véronique Paquis-Flucklinger⁴, Déborah Tribouillard-Tanvier⁵, Nathalie Bonnefoy⁶, Agnès Delahodde⁶, Carole Sellem⁶, Vincent Procaccio¹

1: MITOVASC Institute, CNRS UMR 6015 INSERM U1083, Angers University - Angers (France); 2: Pharmacology laboratory UR7296, Strasbourg University - Strasbourg (France); 3: Côte d'Azur University, CNRS, Institute of Chemistry- Nice (France); 4: IRCAN, UMR 7284 INSERM U1081/UCA - Nice (France); 5: IBGC Institute, CNRS UMR 5095 - Bordeaux (France); 6: Institute for Integrative Biology of the Cell I2BC, UMR9198, University of Paris-Saclay - Paris (France)

Nifuroxazide rescues deleterious effects of MICOS disassembly in disease models

Sylvie Bannwarth¹, Baptiste Ropert¹, Emmanuelle EC. Genin¹, Sandra Lacas-Gervais², Blandine Madji Hounoum³, Nhu Khanh Dinh⁴, Alessandra Mauri-Crouzet¹, Marc-Alexandre D’Elia⁵, Gaelle Augé¹, Manuel Schiff⁶, Deborah Tribouillard-Tanvier⁷, Laurent Monassier⁸, Vincent Procaccio⁹, Nathalie Bonnefoy⁴, Stéphane Azoulay⁵, Jean-Ehrland Ricci³, Agnès Delahodde⁴, Véronique Paquis-Flucklinger¹

1: IRCAN, UMR 7284/INSERM U1081/UCA, Nice, France; 2: Université Côte d’Azur, Centre Commun de Microscopie Appliquée, Nice, France; 3: Université Côte d’Azur, Inserm U1065, C3M, Nice, France; 4: Université Paris Saclay, CEA, CNRS, I2BC, Gif-sur-Yvette, France; 5: Université Côte d’Azur, CNRS UMR 7272, ICN, Nice, France; 6: Université Paris Descartes-Sorbonne Paris Cité, Inserm U1163, Imagine Institute, Paris, France; 7: IBGC, UMR5095 CNRS, Bordeaux, France; 8: CRBS, UR7296, Strasbourg, France; 9: Université d'Angers, UMR CNRS 6015 – INSERM U1083, Angers, France

Lithospermum erythrorhizon complexs extract prevents dexamethasone-induced muscle atrophy in mice

Tae Youl Ha, Jiyun Ahn

Korea Food Research Institute, Korea, Republic of (South Korea)

Myocardial regeneration therapy using human cardiosphere-derived cells with activated mitochondria

Masahiro Shiraishi^1,2, Daisuke Sasaki¹, Atsuhito Takeda¹, Mitsue Hibino^2,3, Hideyoshi Harashima², Yuma Yamada^2,4

1: Department of Pediatrics, Graduate School of Medicine, Hokkaido University, Sapporo, Japan; 2: Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan; 3: Faculty of Engineering, Hokkaido University, Sapporo, Japan; 4: Fusion Oriented REsearch for disruptive Science and Technology (FOREST) Program, Japan Science and Technology Agency (JST) Japan, Saitama, Japan

Quinone compounds in primary mitochondrial disease: in vitro characterization of NQO1-mediated NAD+/NADH modulation

Imen Chamkha^1,3, Lee Webster², Steven J. Moss², Magnus J. Hansson^1,3, Eskil Elmer^1,3

1: Mitochondrial Medicine, Department of Clinical Sciences, Lund University, Lund, Sweden; 2: Isomerase Therapeutics Ltd, Chesterford Research Park, Cambridge, UK; 3: Abliva AB, Lund, Sweden

Metformin in mitochondrial disease patients cardiac cells

Outi Sanna Elina Ryytty, Katriina Kukka-Maaria Nurminen, Riikka Helena Hämäläinen

University of Eastern Finland, Finland

Mavodelpar clinical development program in adult patients with primary mitochondrial myopathy (PMM): results from Phase 1b study and design of ongoing pivotal study (STRIDE).

Robert D.S. Pitceathly^1,2, Renae J. Stefanetti^3,4, Jane Newman^3,4, Alasdair Blain^3,4, Gary Layton⁵, Nicola Regan⁶, Lynn Purkins⁶, Madhu Davies⁶, Alejandro Dorenbaum⁷, Michelangelo Mancuso⁸, Amel Karaa⁹, Gráinne Gorman^3,4

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: Wellcome Centre for Mitochondrial Research, Newcastle University, UK; 4: NIHR Newcastle Biomedical Research Centre, Newcastle University, UK; 5: Paramstat Ltd., UK; 6: Reneo Pharma Ltd., UK; 7: Reneo Pharmaceuticals Inc., USA; 8: Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy; 9: Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA

Rationale and design of a clinical phase 2a study to evaluate the safety and efficiency of OMT-28 in primary mitochondrial disease

Anne Konkel¹, Janine Lossie¹, Luciana Summo¹, Henk Streefkerk¹, John M Seubert², Wolf-Hagen Schunck³, Robert Fischer¹

1: OMEICOS Therapeutics GmbH, Germany; 2: University of Alberta, Canada; 3: Max-Delbrueck Center for Molecular Medicine, Germany

Treatment with lenadogene nolparvovec gene therapy results in sustained visual improvement in m.11778G>A MT-ND4-LHON patients: the RESTORE study

Patrick Yu-Wai-Man¹, Nancy J. Newman², Valerie Biousse², Valerio Carelli³, Mark L. Moster⁴, Catherine Vignal-Clermont⁵, Thomas Klopstock⁶, Alfredo A. Sadun⁷, Robert C. Sergott⁴, Magali Taiel⁸, José-Alain Sahel⁹

1: Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; 2: Departments of Ophthalmology, Neurology and Neurological Surgery, Emory University School of Medicine, Atlanta, GA, USA; 3: IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 4: Departments of Neurology and Ophthalmology, Wills Eye Hospital and Thomas Jefferson University, Philadelphia, PA, USA; 5: Department of Neuro Ophthalmology and Emergencies, Rothschild Foundation Hospital, Paris, France; 6: Department of Neurology, Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilians-University Munich, Munich, Germany; 7: Doheny Eye Institute, UCLA School of Medicine, Los Angeles, CA, USA; 8: GenSight Biologics, Paris, France; 9: Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France

Current status of the phase 3 trial of dichloroacetate (DCA) for pyruvate dehydrogenase complex deficiency (PDCD)

Peter W Stacpoole¹, Kathy Dorsey²

1: University of Florida, United States of America; 2: Saol Therapeutics, United States of America

Efficacy and safety of elamipretide in subjects with primary mitochondrial disease resulting from pathogenic nuclear DNA mutations (nPMD): phase 3 study design

Amel Karaa¹, Michelangelo Mancuso²

1: Massachusetts General Hospital, Harvard Medical School Boston, MA, United States of America; 2: Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy

Long-term efficacy of idebenone in patients with LHON in the LEROS study: Analyzing change in visual acuity categories according to mitochondrial DNA mutation and disease phase

Patrick Yu-Wai-Man^1,2,3,4, Valerio Carelli^5,6, Berthold Pemp⁷, Neringa Jurkutė^3,4,8, Livia Tomasso⁹, Xavier Llòria⁹, Thomas Klopstock^10,11,12

1: John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom; 2: Cambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; 3: Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom; 4: Institute of Ophthalmology, University College London, London, United Kingdom; 5: IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 6: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 7: Department of Ophthalmology, Medical University of Vienna, Vienna, Austria; 8: The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom; 9: Chiesi Farmaceutici S.p.A., Parma, Italy; 10: German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; 11: Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; 12: Department of Neurology, Friedrich‑Baur Institute, University Hospital of the Ludwig-Maximilians-University (LMU), Munich, Germany

Long-term efficacy of idebenone in patients with LHON in the LEROS study: Analyzing change in visual acuity over time according to mitochondrial DNA mutation and disease phase

Berthold Pemp¹, Patrick Yu-Wai-Man^2,3,4,5, Valerio Carelli^6,7, Neringa Jurkutė^4,5,8, Livia Tomasso⁹, Xavier Llòria⁹, Thomas Klopstock^10,11,12

1: Department of Ophthalmology, Medical University of Vienna, Vienna, Austria; 2: John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom; 3: Cambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; 4: Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom; 5: Institute of Ophthalmology, University College London, London, United Kingdom; 6: IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 7: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 8: The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom; 9: Chiesi Farmaceutici S.p.A., Parma, Italy; 10: German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; 11: Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; 12: Department of Neurology, Friedrich‑Baur Institute, University Hospital of the Ludwig-Maximilians-University (LMU), Munich, Germany

Long-term efficacy of idebenone in patients with LHON in the LEROS study: Analyzing the impact of idebenone on rates of recovery and worsening of vision according to primary mitochondrial DNA mutation

Neringa Jurkutė^1,2,3, Patrick Yu-Wai-Man^1,2,4,5, Berthold Pemp⁶, Valerio Carelli^7,8, Xavier Llòria⁹, Livia Tomasso⁹, Thomas Klopstock^10,11,12, Alessio Amadasi⁹

1: Moorfields Eye Hospital NHS Foundation Trust, United Kingdom; 2: Institute of Ophthalmology, University College London, London, United Kingdom; 3: The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom; 4: John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom; 5: Cambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; 6: Department of Ophthalmology, Medical University of Vienna, Vienna, Austria; 7: IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 8: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 9: Chiesi Farmaceutici S.p.A., Parma, Italy; 10: German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; 11: Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; 12: Department of Neurology, Friedrich‑Baur Institute, University Hospital of the Ludwig-Maximilians-University (LMU), Munich, Germany

Enzyme replacement strategy by transplantation in MNGIE: lessons from the updated Bologna case series

Roberto D'Angelo¹, Elisa Boschetti¹, Leonardo Caporali¹, Laura Ludovica Gramegna¹, Giovanna Cenacchi¹, Raffaele Lodi¹, Maria Cristina Morelli², Matteo Cescon², Caterina Tonon¹, Alessia Pugliese³, Maria Teresa Dotti⁴, Francesco Sicurelli⁴, Mauro Scarpelli⁵, Massimiliano Filosto⁶, Carlo Casali⁷, Loris Pironi², Valerio Carelli¹, Roberto De Giorgio⁸, Rita Rinaldi¹

1: IRCCS Istituto Scienze Neurologiche di Bologna, Italy; 2: IRCCS Policlinico Sant’Orsola-Malpighi di Bologna, Bologna, Italy; 3: Department of Clinical and experimental Medicine, University of Messina, Messina, Italy; 4: Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena; 5: Institute of Neurology, University of Verona, Verona, Italy; 6: Center for Neuromuscular Diseases, Unit of Neurology, ASST "Spedali Civili", Brescia, Italy; 7: Department of Medico-Surgical Sciences and Biotechnologies, University ‘La Sapienza’, Roma, Italy; 8: Department of Morphology, Surgery and Experimental Medicine, St. Anna Hospital, University of Ferrara, Ferrara, Italy

Developing mouse models to investigate the molecular mechanisms of POLG-related diseases

Samantha Corra'^1,2, Alessandro Zuppardo^1,3, Louise Jenninger⁴, Raffaele Cerutti^1,2, Pedro Silva-Pinheiro⁵, Valeria Balmaceda^1,3, Sara Volta¹, Massimo Zeviani^1,2, Maria Falkenberg⁴, Carlo Viscomi^1,3

1: Venetian Institute of Molecular Medicine, Padova; 2: Department of Neuroscience, University of Padova; 3: Department of Biomedical Sciences, University of Padova; 4: Dept. Medical Chemistry & Cell Biology, Institute of Biomedicine, University of Gothenburg, Gothenburg; 5: Mitochondrial Biology Unit, MRC/University of Cambridge, Cambridge, UK

Long-term efficacy of idebenone in patients with LHON in the LEROS study: Analyzing the impact of idebenone on rates of recovery and worsening of vision according to disease phase

Xavier Llòria¹, Patrick Yu-Wai-Man^2,3,4,5, Valerio Carelli^6,7, Berthold Pemp⁸, Neringa Jurkutė^4,5,9, Livia Tomasso¹, Thomas Klopstock^10,11,12

1: Chiesi Farmaceutici S.p.A., Parma, Italy; 2: John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom; 3: Cambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; 4: Moorfields Eye Hospital NHS Foundation Trust, United Kingdom; 5: Institute of Ophthalmology, University College London, London, United Kingdom; 6: IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 7: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 8: Department of Ophthalmology, Medical University of Vienna, Vienna, Austria; 9: The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom; 10: German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; 11: Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; 12: Department of Neurology, Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-University (LMU), Munich, Germany

Validation of drug delivery and functional activation to mitochondria in skeletal muscle cell

Itsumi Sato^1,2, Mitsue Hibino^1,3, Daisuke Sasaki^1,2, Atsuhito Takeda², Hideyoshi Harashima³, Yuma Yamada^1,4

1: Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan; 2: Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan; 3: Faculty of Engineering, Hokkaido University, Sapporo, Japan; 4: Fusion Oriented research for disruptive Science and Technology (FOREST) Program, Japan Science and Technology Agency (JST) Japan, Saitama, Japan

Novel approaches to modulate mutant mitochondrial DNA in patient-derived induced-pluripotent stem cells

David F Bodenstein¹, Zoe S Thompson², Jonathan M Palozzi², Thomas R Hurd², Ana C Andreazza^1,3

1: Department of Pharmacology and Toxicology, University of Toronto, Toronto, Canada; 2: Department of Molecular Genetics, University of Toronto, Toronto, Canada; 3: Department of Psychiatry, University of Toronto, Toronto, ON, Canada

Evaluation of mtDNA copy number assessment in patients with suspected mitochondrial disease

Kate Sergeant^1,2, Carl Fratter^1,2, Louisa Kent^1,3, Tom Vale³, Anca Alungulese⁴, Conrad Smith^1,2, Philip Hodsdon^1,2, Stefen Brady^1,3, Joanna Poulton^1,5, Victoria Nesbitt¹

1: NHS Highly Specialised Services for Rare Mitochondrial Disorders, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; 2: Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; 3: Department of Neurology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; 4: Department of Neurology, Gregorio Marañón University Hospital, Madrid, Spain; 5: Nuffield Department of Women’s & Reproductive Health, University of Oxford, Oxford, UK

Hepatoencephalopathy due to GFM1 mutations: generation of a mouse model and preclinical study of an AAV-based gene therapy for the disease

Miguel Molina-Berenguer^1,2, Ferran Vila-Julià^1,2, Sandra Pérez-Ramos^1,2, Maria Teresa Salcedo-Allende³, Yolanda Cámara^1,2, Diego Herrero-Martínez^4,5, África Vales^4,5, Gloria González-Aseguinolaza^4,5, Javier Torres-Torronteras^1,2, Ramon Martí^1,2

1: Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona - Barcelona (Spain); 2: Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III - Madrid (Spain); 3: Pathology Department, Vall d'Hebron Research Institute, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona - Barcelona (Spain); 4: Programa de Terapia Génica y Regulación de la Expresión Génica, Centro de Investigación Médica Aplicada (CIMA), Universidad de Navarra - Pamplona (Spain); 5: Instituto de Investigación Sanitaria de Navarra, IdiSNA - Pamplona (Spain)

Neuroglobin overexpression in cerebellar neurons of Harlequin mice improves mitochondrial homeostasis and reduces ataxic behavior

Hélène Cwerman-Thibault¹, Vassilissa Malko-Baverel¹, Gwendoline Le Guilloux¹, Edward Ratcliffe¹, Djmila Mouri¹, Isabel Torres-Cuevas^1,2,3, Ivan Millan^1,2,3, Virginie Mignon⁴, Bruno Saubaméa^4,5, Odile Boespflug-Tanguy¹, Pierre Gressens¹, Marisol Corral-Debrinski¹

1: Université Paris Cité, NeuroDiderot, Inserm, F-75019 Paris, France; 2: Neonatal Research Group, Health Research Institute La Fe, 46026 Valencia, Spain; 3: Laboratory of Comparative Neurobiology, Cavanilles Institute of Biodiversity and Evolutionary Biology, University of Valencia, Valencia, Spain; 4: Université Paris Cité, Platform of Cellular and Molecular Imaging, US25 Inserm, UAR3612 CNRS, 75006 Paris, France; 5: Université de Paris, UMR-S 1144 Inserm, 75006 Paris, France

Guanylate kinase 1 deficiency: a novel and potentially treatable form of mitochondrial DNA depletion/deletions syndrome

Agustin Hidalgo-Gutierrez¹, Jonathan Shintaku¹, Eliana Barriocanal-Casado¹, Russ Saneto², Javier Ramon^4,7, Gloria Garrabou^4,5, Frederic Tort^3,4, Jose Cesar Milisenda⁶, Laura Gort^3,4, Alba Pesini¹, Saba Tadesse¹, Mary-Claire King⁸, Ramon Marti^4,7, Antonia Ribes^3,4, Michio Hirano¹

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.

Mechanisms of mtDNA maintenance and segregation in the female germline

Laura Kremer¹, Lyuba Bozhilova^2,3, Diana Rubalcava-Garcia¹, Roberta Filograna¹, Mamta Upadhyay¹, Camilla Koolmeister¹, Patrick Chinnery^2,3, Nils-Göran Larsson¹

1: Karolinska Institutet, Stockholm, Sweden; 2: MRC Mitochondrial Biology Unit, Cambridge, United Kingdom; 3: Department of Clinical Neurosciences, University of Cambridge, United Kingdom

Processing of mitochondrial RNA in health and disease: the role of FASTKD5.

Hana Antonicka¹, James B. Gibson², Eric A. Shoubridge¹

1: The Neuro & McGill University, Montreal, Quebec, Canada; 2: Dell School of Medicine, University of Texas at Austin, Austin, TX, USA

The human Mitochondrial mRNA Structurome reveals Mechanisms of Gene Expression in Physiology and Pathology

Antoni Barrientos¹, Conor Moran¹, Amir Brivanlou², Flavia Fontanesi¹, Silvi Rouskin²

1: University of Miami, United States of America; 2: Harvard Medical School, United States of America

Host-microbiome co-adaptation to severe nutritional challenge

Subhajit Singha¹, Maxim Itkin², Sergey Malitsky², Yoav Soen¹

1: Department of Biomolecular Sciences, Weizmann Institute of Science, Israel; 2: Life Sciences Core Facilities, Weizmann Institute of Science, Israel

The heme exporter FLVCR1a regulates ER-mitochondria membranes tethering and mitochondrial calcium handling

Francesca Bertino¹, Dibyanti Mukherjee², Massimo Bonora³, Jeannette Nardelli⁴, Nicolas Santander Grez⁵, Andreas Hentschel⁶, Elisa Quarta¹, Pierre Gressens⁴, Chiara Riganti⁷, Paolo P Pinton³, Andreas Roos⁸, Thomas Arnold², Emanuela Tolosano¹, Deborah Chiabrando¹

1: University of Turin, Department of Molecular Biotechnology and Health Sciences; 2: Department of Pediatrics, University of California San Francisco, San Francisco, United States; 3: Department of Medical Sciences, Section of Experimental Medicine, Laboratory for Technologies of Advanced Therapies, University of Ferrara, Ferrara, Italy; 4: Université de Paris, NeuroDiderot, Inserm, 75019 Paris, France; 5: Instituto de Ciencias de la Salud, Universidad de O'Higgins, Rancagua, Chile; 6: Leibniz Institute of Analytical Sciences, ISAS, Dortmund, Germany; 7: Department of Oncology, University of Torino, Italy; 8: Department of Pediatric Neurology, Developmental Neurology, and Social Pediatrics, Center for Neuromuscular Disorders in Children and Adolescents, University of Duisburg-Essen, Essen, Germany

Genetic variants impact on NQO1 expression and activity driving efficacy of idebenone treatment in Leber’s hereditary optic neuropathy cell models

Valentina Del Dotto¹, Serena Jasmine Aleo¹, Martina Romagnoli², Claudio Fiorini², Giada Capirossi¹, Camille Peron³, Alessandra Maresca², Leonardo Caporali², Mariantonietta Capristo², Concetta Valentina Tropeano², Claudia Zanna¹, Anna Maria Porcelli⁴, Giulia Amore², Chiara La Morgia^1,2, Valeria Tiranti³, Valerio Carelli^1,2, Anna Maria Ghelli⁴

1: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 2: IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; 3: Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; 4: Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.

Peptide mimetic molecules as potential therapeutic agents against diseases related to mt-tRNA point mutations.

Annalinda Pisano¹, Luciana Mosca², Maria Gemma Pignataro¹, Veronica Morea³, Giulia d'Amati¹

1: Department of Radiological, Oncological and Pathological Sciences, Sapienza University of Rome, Italy; 2: Department of Biochemical Sciences "A. Rossi Fanelli, Sapienza University of Rome, Italy; 3: Institute of Molecular Biology and Pathology (IBPM), National Research Council (CNR) of Italy

The mitoDdCBE system as a mitochondrial gene therapy approach

Jose Domingo Barrera-Paez¹, Sandra R. Bacman¹, Till Balla², Beverly Mok³, David Liu³, Danny Nedialkova², Carlos T. Moraes¹

1: University of Miami, United States of America; 2: Max Planck Institute of Biochemistry, Germany; 3: Broad Institute, Harvard University, and HHMI, United States of America

Niacin treatment improves metabolic changes in early-stage mitochondrial myopathy

Kimmo Haimilahti^1,2, Lilli Pihlajamäki¹, Mari Auranen³, Niina Urho³, Päivi Piirilä⁴, Antti Hakkarainen⁵, Min Ni⁶, Kirsi Pietiläinen^7,8, Ralph DeBerardinis⁶, Nahid A. Khan¹, Anu Suomalainen^1,9

1: Research Program for Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 2: Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 3: Department of Neurosciences, Helsinki University Hospital, Helsinki, Finland; 4: Department of Clinical Physiology and Nuclear Medicine, Laboratory of Clinical Physiology, Helsinki University Hospital, Helsinki, Finland; 5: HUS Diagnostic Center, Radiology, Helsinki University and Helsinki University Hospital, Helsinki, Finland; 6: Children’s Research Institute, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America; 7: Obesity Research Unit, Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; 8: Healthy Weight Hub, Abdominal Center, Endocrinology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland; 9: Helsinki University Hospital Diagnostic Centre, Helsinki, Finland

PHEMI: Phenylbutyrate Therapy in Mitochondrial Diseases with lactic acidosis: an open label clinical trial in MELAS and PDH deficiency patients.

Silvia Marchet¹, Anna Ardissone², Krisztina Einvag¹, Daniele Sala¹, Eleonora Lamantea¹, Giulia Cecchi³, Vincenzo Montano³, Piervito Lopriore³, Maria Pia Iermito¹, Michelangelo Mancuso³, Costanza Lamperti¹

1: Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Experimental Neuroscience, Unit of Medical Genetics and Neurogenetics, Milan, Italy; 2: Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Pediatric Neurosciences, Milan, Italy; 3: Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

Use of lenadogene nolparvovec gene therapy for Leber hereditary optic neuropathy in early access programs

Chiara La Morgia¹, Catherine Vignal-Clermont², Valerio Carelli¹, Michele Carbonelli²³, Rabih Hage³, Mark L. Moster⁴, Robert C. Sergott⁴, Sean P. Donahue⁵, Patrick Yu-Wai-Man⁶, Hélène Dollfus⁷, Thomas Klopstock⁸, Claudia Priglinger⁹, Vasily Smirnov¹⁰, Giulia Amore²³, Martina Romagnoli¹, Catherine Cochard¹¹, Marie-Benedicte Rougier¹², Emilie Tournaire-Marques¹², Pierre Lebranchu¹³, Caroline Froment¹⁴, Frederic Pollet-Villard¹⁵, Marie-Alice Laville¹⁶, Claudia Prospero Ponce¹⁷, Scott D. Walter¹⁸, Francis Munier¹⁹, Pauline Zoppe²⁰, Michel Roux²¹, Magali Taiel²¹, José-Alain Sahel²²

1: IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; 2: Department of Neuro Ophthalmology and Emergencies, Rothschild Foundation Hospital, Paris, France; 3: Centre Hospitalier National d’Ophtalmologie des Quinze Vingts, Paris, France; 4: Departments of Neurology and Ophthalmology, Wills Eye Hospital and Thomas Jefferson University, Philadelphia, PA, USA; 5: Department of Ophthalmology, Neurology, and Pediatrics, Vanderbilt University, and Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN, USA; 6: Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; 7: Institut de Génétique Médicale d’Alsace, CHU de Strasbourg, Strasbourg, France; 8: Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilians-University, Munich, Germany; 9: University Hospital, Ludwig-Maximilians-University, Munich, Germany; 10: Service Explorations de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France; 11: Service d'Ophtalmologie, CHU de Rennes, Rennes, France; 12: Service d'Ophtalmologie, CHU de Bordeaux, Groupe Hospitalier Pellegrin, Bordeaux, France; 13: Service d'Ophtalmologie, CHU de Nantes, Nantes, France; 14: Service de Neuro-Cognition et Neuro-Ophtalmologie, CHU de Lyon, Lyon, France; 15: Service d'Ophtalmologie, Centre Hospitalier de Valence, Valence, France; 16: Service d'Ophtalmologie, CHU de Caen, Caen, France; 17: Department of Ophthalmology, Blanton Eye Institute, Houston Methodist Hospital, Houston, Texas, USA; 18: Retina Consultants, P.C, Hartford, Connecticut, USA; 19: Service d'Ophtalmologie, Hôpital Ophtalmique Jules-Gonin, Lausanne, Switzerland; 20: Centre Hospitalier de Wallonie Picarde, Tournai, Belgium; 21: GenSight Biologics, Paris, France; 22: Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; 23: Department of Biomedical and Neuromotor Sciences, DIBINEM, Bologna, Italy

MitoCRISPR/Cas9 shifts mtDNA heteroplasmy not as effective as other site-specific nucleases.

Elvira Zakirova^1,2, Ilya Mazunin³, Elena Kiseleva², Ksenia Morozova^1,2, Konstantin Orishchenko^1,2

1: Novosibirsk State University, Novosibirsk, Russia; 2: Institute of Cytology and Genetics SB RAS, Novosibirsk, Russia; 3: Skolkovo Institute of Science and Technology, Moscow, Russia

Prenatal diagnostics for a family with 13513G>A mtDNA mutation associated with Leigh Syndrome

Crystal M Van Dyken¹, Amy Koski¹, Hong Ma¹, Nuria Marti Gutierrez¹, Aleksei Mikhalchenko¹, Rebecca Tippner-Hedges¹, Daniel Frana¹, Paula Amato², Shoukhrat Mitalipov¹

1: Center for Embryonic Cell and Gene Therapy, Oregon Health and Science University, United States of America; 2: Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology, Oregon Health and Science University, United States of America

Specific elimination of m.3243A>G mutant mitochondria DNA using mitoARCUS

Wendy K. Shoop^1,2, Cassandra L. Gorsuch¹, Emma Sevigny¹, Sandra R. Bacman², Janel Lape¹, Jeff Smith¹, Derek Jantz¹, Carlos T. Moraes²

1: Precision BioSciences - Durham, NC, United States of America; 2: University of Miami - Miami, FL, United States of America

Identification of autophagy as a functional target suitable for the pharmacological treatment of MPAN in vitro

Enrica Zanuttigh¹, Kevork Derderian¹, Miriam A. Güra¹, Arie Geerlof², Ivano Di Meo³, Chiara Cavestro³, Stefan Hempfling^4,5, Stephanie Ortiz-Collazos^4,5, Mario Mauthe^6,7, Tomasz Kmieć⁸, Eugenia Cammarota⁹, Maria Carla Panzeri⁹, Thomas Klopstock^10,11,12, Michael Sattler^4,5, Juliane Winkelmann^1,13, Ana C. Messias^4,5, Arcangela Iuso^1,13

1: Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; 2: Protein Expression and Purification Facility, Institute of Structural Biology, Molecular Targets and Therapeutics Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany; 3: Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy; 4: Institute of Structural Biology, Molecular Targets and Therapeutics Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany; 5: Bavarian NMR Centre, Department of Bioscience, School of Natural Sciences, Technical University of Munich, 85747 Garching, Germany; 6: Molecular Cell Biology Section, Department of Biomedical Sciences of Cells & Systems, University of Groningen, University Medical Center Groningen, 9713 AV Groningen, The Netherlands; 7: Expertise Center Movement Disorders Groningen, University Medical Center Groningen, 9713 AV Groningen, The Netherlands; 8: Department of Neurology and Epileptology, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland; 9: Alembic, Experimental Imaging Center, IRCCS San Raffaele Hospital, 20132 Milan, Italy; 10: Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-University (LMU), 80336 Munich, Germany; 11: Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany; 12: German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany; 13: Institute of Human Genetics, Klinikum Rechts der Isar, Technical University of Munich, 81675 Munich, Germany

PPAR Gamma Agonist Pioglitazone restores Mitochondrial Quality Control in fibroblasts of PITRM1 deficient patients

Alessia Di Donfrancesco¹, Christian Berlingieri¹, Marta Giacomello², Laurence Bindoff³, Segel Reeval⁴, Paul Renbaum⁴, Filippo Santorelli⁵, Carlo Viscomi⁶, Massimo Zeviani⁷, Daniele Ghezzi¹, Dario Brunetti¹

1: Fondazione IRCCS Istituto Neurologico Carlo Besta, Italy; 2: Department of Biology, University of Padua, Italy; 3: Department of Clinical Medicine, University of Bergen, Norway; 4: Shaare Zedek Medical Center, The Hebrew University of Jerusalem, Israel; 5: Molecular Medicine, IRCCS Fondazione Stella Maris, Italy; 6: Department of Biomedical Sciences, University of Padova, Italy; 7: Department of Neurosciences, University of Padova, Italy

Mitochondrial derived vesicles retain membrane potential and contain a functional ATP synthase

‪Reut Hazan‬‏¹, Dvora Lintzer¹, Tamar Ziv², Koyeli Das¹, Irit Rosenhek-Goldian³, Ziv Porat³, Hila Ben Ami Pilo³, Sharon Karniely⁴, Ann Saada⁵, Neta Regev-Rudzki³, Ophry Pines¹

1: Hebrew university, Israel; 2: Technion, Haifa, Israel; 3: Weizmann Institute of Science, Rehovot, Israel; 4: Kimron Veterinary Institute, Bet Dagan, Israel; 5: Hadassah Medical Center and Faculty of Medicine, Hebrew University, Jerusalem Israel

Metabolic modulation of mitochondrial DNA release in cellular models of Parkin-associated Parkinson’s disease

Gideon Agyeah¹, Paul Antony¹, Kobi Wasner¹, Aleksandar Rakovic², Sandro L Pereira¹, Anne Grünewald^1,2

1: Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg; 2: Institute of Neurogenetics, University of Lübeck, Lübeck, Germany

ATP synthase c-subunit leak metabolism associated with abnormal mitophagic clearance

Bledi Petriti^1,2, Shobana Subramanian², Pawel Licznerski², K Y Chau¹, Lascaratos Gerassimos¹, Garway-Heath David¹, Jonas Elizabeth²

1: University College London, United Kingdom; 2: Yale University , USA

Investigating the role of mitochondrial regulators in sorafenib and lenvatinib resistance in HCC cell line

Silvia Pedretti¹, Francesca Palermo¹, Gabriele Imperato¹, Donatella Caruso¹, Maurizio Crestani¹, Emma De Fabiani¹, Nico Mitro^1,2

1: Department of Pharmacological and Biomolecular Sciences - DiSFeB, University of Milan, Italy; 2: Department of Experimental Oncology, IEO, European Institute of Oncology IRCCS, Milan, Italy

Glucose-derived glutamate drives neuronal differentiation

Laura D'Andrea¹, Matteo Audano¹, Silvia Pedretti¹, Gabriele Imperato¹, Giulia De Cesare¹, Clara Cambria², Flavia Antonucci^2,3, Marine Laporte⁴, Monica Di Luca¹, Elena Marcello¹, Nico Mitro^1,5

1: Department of Pharmacological and Biomolecular Sciences -DiSFeB, Università degli Studi di Milano, Milan, Italy; 2: Department of Medical Biotechnology and Translational Medicine - BIOMETRA, Università degli Studi di Milano, Milan, Italy; 3: Institute of Neuroscience, IN-CNR, Milan, Italy; 4: Department of Molecular and Cellular Biology, University of Geneva, Geneva, Switzerland; 5: Department of Experimental Oncology, IEO, European Institute of Oncology IRCCS, Milan, Italy.