Conference Agenda

Maintenance on mitochondrial complexes ensures bioenergetic function in differentiated cells

Ilka Wittig¹, Julian Heidler¹, Heiko Giese², Ralf P. Brandes¹

¹Institute for Cardiovascular Physiology, Goethe University Frankfurt, Germany; ²Molecular Bioinformatics, Goethe University, Frankfurt, Germany

Investigating pathogenicity and tissue-specificity of mitochondrial aminoacyl-tRNA synthetase defects AARS2, EARS2 and RARS2 in neurons

Oliver Podmanicky, Fei Gao, Denisa Hathazi, Rita Horvath

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

Julia Corral-Sarasa¹, Sergio López-Herrador², Juan M. Martínez-Gálvez^1,3, Pilar González-García², Laura Jiménez-Sánchez¹, Mª Elena Díaz-Casado^1,2, Luis C. López^1,2

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

Pathogenic variants of the mitochondrial metallochaperone SCO1 result in a severe, combined COX and copper deficiency that causes a dilated cardiomyopathy in the murine heart.

Sampurna Ghosh¹, Scot C. Leary¹, Paul A. Cobine²

¹University of Saskatchewan, Canada; ²Auburn University

Tissue-specific adaptation of stress responses upon COX10 deficiency

Lea Isermann^1,2, Milica Popovic^1,2, Ming Yang^1,2, Christian Frezza^1,2, Aleksandra Trifunovic^1,2

¹CECAD Research Center, Germany; ²Institute for Mitochondrial Diseases and Aging, Medical Faculty, University of Cologne

Using iPSC-derived neurons to unravel the pathomechanisms of Leber’s hereditary optic neuropathy

Camille Peron¹, Alessandra Maresca², Angelo Iannielli^3,4, Alberto Danese⁵, Simone Patergnani⁵, Danara Ormanbekova², Andrea Cavaliere¹, Carlotta Giorgi⁵, Paolo Pinton^5,6, Vania Broccoli^3,4, Valerio Carelli^2,7, Valeria Tiranti¹

¹Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; ²IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; ³Division of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), San Raffaele Scientific Institute, via Olgettina 60, 20132, Milan, Italy; ⁴National Research Council (CNR), Institute of Neuroscience, Milan, Italy; ⁵Department of Medical Sciences, Laboratory for Technologies of Advanced Therapies, University of Ferrara, 44121 Ferrara, Italy; ⁶Maria Cecilia Hospital, GVM Care & Research, 48033, Cotignola, Ravenna, Italy; ⁷Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy

Stem cell modelling of mitochondrial disease-linked cardiomyopathy

Ann E. Frazier^1,2, Yau Chung Low^1,2, Cameron L. McKnight^1,2, Linden Muellner-Wong^1,3, Hayley L. Pointer¹, Nikeisha Caruana³, Jordan J. Crameri³, Luke E. Formosa⁴, Yilin Kang³, Thomas D. Jackson³, Alison G. Compton^1,2,5, Michael T. Ryan⁴, Andrew G. Elefanty^1,2,6, Enzo R. Porrello^1,6,7,8, David A. Stroud^1,3,5, David A. Elliott^1,2,6,7, Diana Stojanovski³, David R. Thorburn^1,2,5

¹Murdoch Children’s Research Institute, The Royal Children's Hospital, Melbourne, VIC, Australia; ²Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia; ³Department of Biochemistry and Pharmacology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, Australia; ⁴Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC, Australia; ⁵Victorian Clinical Genetics Services, The Royal Children’s Hospital, Melbourne, VIC, Australia; ⁶The Novo Nordisk Foundation Center for Stem Cell Medicine (reNEW), Murdoch Children's Research Institute, Melbourne, VIC, Australia; ⁷Melbourne Centre for Cardiovascular Genomics and Regenerative Medicine, The Royal Children's Hospital, Melbourne, VIC, Australia; ⁸Department of Anatomy and Physiology, School of Biomedical Sciences, The University of Melbourne, Melbourne, VIC, Australia

Biochemical and computational approaches to dissect the effect of MT-CYB pathogenic mutations on respiratory chain activity and assembly

Gaia Tioli, Francesco Musiani, Luisa Iommarini, Anna Maria Porcelli, Anna Maria Ghelli

Department of Pharmacy and Biotechnology, University of Bologna, Italy

Exploring the assembly and maintenance of mitochondrial complex I by complexome profiling-based approaches

Alfredo Cabrera-Orefice^1,2, Ilka Wittig¹

¹Institute for Cardiovascular Physiology, Goethe University Frankfurt, Germany; ²Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands

Functional involvement of actin-binding Gelsolin on mitochondrial Oxphos dysfunction

María Illescas, Ana Peñas, Cristina Ugalde

Fundación Hospital 12 de Octubre, Spain

In vivo role of respiratory complex I NDUFA10 subunit in dNTP homeostasis

Andrea Férriz Gordillo¹, David Molina-Granada^1,2, Javier Ramón^1,2, Izaskun Izagirre-Urizar¹, Marina Singla-Manau¹, Maria Jesús Melià^1,2, Antoni Ruiz-Vicaria¹, Javier Torres-Torronteras^1,2, Mònica Zamora³, Michael T. Ryan⁴, Cristina Ugalde^2,5, Josep Antoni Villena⁶, Ramon Martí^1,2, Yolanda Cámara^1,2

¹Research Group on Neuromuscular and Mitochondrial Disorders, Vall d’Hebron Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain; ²Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; ³BCNatal | Fetal Medicine Research Center (Hospital Clínic and Hospital Sant Joan de Déu), University of Barcelona, Barcelona 08028, Spain. and Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona 08036, Spain.; ⁴Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, Australia; ⁵Instituto de Investigación, Hospital Universitario 12 de Octubre, Avda. de Córdoba s/n, 28041 Madrid, Spain.; ⁶Laboratory of Metabolism and Obesity, Vall d'Hebron - Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain; CIBERDEM, CIBER on Diabetes and Associated Metabolic Diseases, Instituto de Salud Carlos III, Barcelona, Spain

Modeling POLRMT pathogenic variants in the mouse

David Alsina^1,2, Roberta Filograna^1,2, Rodolfo García-Villegas^1,2, Camilla Koolmeister^1,2, Nils-Göran Larsson^1,2,3

¹Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden; ²Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Karolinska Institutet, Stockholm, Sweden; ³Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden

The role of the CCR4 family member ANGEL1 in the expression of mitochondrial-targeted proteins

Kai Chang¹, Paula Clemente¹, Joyce Noble¹, Björn Reinius¹, Anna Wedell^1,2, Christoph Freyer^1,2, Anna Wredenberg^1,2

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

Tissue-specific bioenergetics in mouse models of mitochondrial disease

Valeria Balmaceda¹, Timea Komoldi², Massimo Zeviani¹, Erich Gnaiger³, Anthony L. Moore⁴, Erika Fernandez Vizarra¹, Carlo Viscomi¹

¹Università di Padova; ²Semmelweis University; ³Universität Innsbruck; ⁴University of Sussex

Yeast as a tool to investigate variants in mtARS genes associated with mitochondrial diseases

Sonia Figuccia¹, Camilla Ceccatelli Berti¹, Andrea Legati², Rossella Izzo², Alessia Nasca², Daniele Ghezzi^2,3, Paola Goffrini¹

¹Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy; ²Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ³Department of Medical Physiopathology and Transplantation, University of Milan, Milan, Italy

A mutation in mouse mt-Atp6 gene induces respiration defects and opposed effects on the cell tumorigenic phenotype

Raquel Moreno-Loshuertos¹, Nieves Movilla¹, Joaquín Marco-Brualla², Ruth Soler-Agesta¹, Patricia Ferreira¹, José Antonio Enríquez³, Patricio Fernández-Silva¹

¹University of Zaragoza, Spain; ²University of Zaragoza, Peaches Biotech Group, Spain; ³Fundación Centro Nacional de Investigaciones Cardiovasculares Carlos III, Spain

A systemic Muscle-WAT crosstalk progressively depletes protein and fat stores aggravating mitochondrial myopathy.

Nneka Southwell¹, Guido Primiano³, Emelie Beattie¹, Nicola Rizzardi¹, Serenella Servidei³, Giovanni Manfredi¹, Qiuying Chen², Marilena D'Aurelio¹

¹Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY; ²Weill Cornell Medicine, Department of Pharmacology, New York, NY; ³Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy; Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy.

A novel mitochondrial assembly factor RTN4IP1 has an essential role in the final stages of Complex I assembly

Monika Oláhová^1,2, Jack J. Collier^1,3, Rachel M. Guerra⁴, Juliana Heidler⁵, Kyle Thompson¹, Robert N. Lightowlers¹, Zofia M.A. Chrzanowska-Lightowlers¹, Ilka Wittig⁵, David J. Pagliarini⁴, Robert W. Taylor¹

¹Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; ²Department of Applied Sciences, Faculty of Health & Life Sciences, Northumbria University, Newcastle upon Tyne, UK; ³Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, QC, Canada; ⁴Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO 63110, USA; ⁵Functional Proteomics Group, Institute for Cardiovascular Physiology, Goethe University Frankfurt, 60590, Frankfurt am Main, Germany

ETFDH supports OXPHOS efficiency in skeletal muscle by regulating coenzyme Q homeostasis

Beñat Salegi Ansa¹, Juan Cruz Herrero Martín¹, José M. Cuezva^1,2,3,4, Laura Formentini^1,2,3,4

¹Department of Molecular Biology, Centro de Biología Molecular "Severo Ochoa" (CBMSO-UAM-CSIC), Madrid, Spain; ²Instituto Universitario de Biología Molecular (IUBM), Autonomous University of Madrid, Madrid, Spain; ³Centro de Investigación Biomédica en red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; ⁴Instituto de Investigación Hospital 12 de octubre, i+12, Universidad Autónoma de Madrid, Madrid, Spain

Metabolic rewiring as an adaptive mechanism in COX null cells

Guillermo Puertas-Frias^1,2, Kristýna Čunátová^1,2, Petr Pecina¹, Marek Vrbacký¹, Lukáš Alán¹, Tomáš Čajka³, Josef Houštěk¹, Tomáš Mráček¹, Alena Pecinová¹

¹Department of Bioenergetics, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic; ²Faculty of Science, Charles University, 12800 Prague, Czech Republic; ³Laboratory of Translational Metabolomics, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic

Metabolic rewiring due to progressive increase in mtDNA mutation heteroplasmy reveals markers of disease severity

Karin Terburgh¹, Marianne Venter¹, Jeremie Z Lindeque¹, Emi Ogasawara², Mirian C H Janssen³, Jan A M Smeitink³, Kazuto Nakada⁴, Roan Louw¹

¹North-West University, South Africa; ²Osaka University, Japan; ³Radboud University Medical Center, Netherlands; ⁴University of Tsukuba, Japan

Novel or rare AIFM1 pathogenic variants: their impact on mitochondrial metabolism and clinical manifestation in eight patients, including 3 girls

Tereza Rakosnikova¹, Jan Kulhanek¹, Martin Reboun¹, Hana Stufkova¹, Lenka Dvorakova¹, Dagmar Grecmalova², Pavlina Plevova², Tomas Honzik¹, Hana Hansikova¹, Jiri Zeman¹, Marketa Tesarova¹

¹Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague; ²Institute of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava

Pathological molecular mechanisms underlying COA8 loss of function

Kristyna Cunatova^1,2, Michele Brischigliaro^1,2, Alfredo Cabrera-Orefice³, Cinzia Franchin¹, Jimin Pei⁴, Marco Roverso⁵, Sara Bogialli⁵, Qian Cong⁴, Giorgio Arrigoni¹, Susanne Arnold^3,6, Carlo Viscomi^1,2, Massimo Zeviani^2,7, Erika Fernández-Vizarra^1,2

¹Department of Biomedical Sciences, University of Padova, Padova, Italy; ²Veneto Institute of Molecular Medicine, Padova, Italy; ³Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; ⁴University of Texas Southwestern Medical Center, Dallas, TX, USA; ⁵Department of Chemical Sciences, University of Padova, Padova, Italy; ⁶Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany; ⁷Department of Neurosciences, University of Padova, Padova, Italy

Retinal pathophysiology characterisation of the novel mitochondrial heteroplasmy mouse model

Lucia Luengo-Gutierrez¹, Keira Turner¹, James B Stewart², Patrick Yu-Wai-Man¹, Michal Minczuk¹

¹University of Cambridge, United Kingdom; ²Newcastle University, United Kingdom

Impaired spermatogenesis driven by mitochondrial dysfunction and ferroptosis in primary spermatocytes in a mouse model of Leigh syndrome

Enrico Radaelli¹, Charles-Antoine Assenmacher¹, Esha Banerjee¹, Florence Manero², Salim Khiati³, Anais Girona³, Guillermo Lopez-Lluch⁴, Placido Navas⁴, Marco Spinazzi^3,5

¹University of Pennsylvania,USA; ²University of Angers, SFR ICAT, SCIAM, 49000 Angers, France; ³MITOLAB, University of Angers, INSERM U1083, France; ⁴Pablo de Olavide University, Spain; ⁵Neuromuscular Reference Center CHU Angers, France

Mitophagy dysfunction in mitochondrial myopathy and therapy by mitophagy activator CAP1902

Takayuki Mito¹, Amy E. Vincent², Julie Faitg², Kathleen Rodgers³, Kevin Gaffney³, Thomas G. McWilliams¹, Orian Shirihai⁴, Anu Suomalainen¹

¹STEMM Research Program, Biomedicum Helsinki, Faculty of Medicine, University of Helsinki, Helsinki, Finland; ²Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; ³Department of Pharmacology, Center for Innovations in Brain Science, University of Arizona, Tucson, AZ, USA; ⁴Department of Medicine, Endocrinology, and Department of Molecular and Medical Pharmacology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA

Mtfp1 controls oxidative phosphorylation and cell death in liver disease

Cecilia Patitucci¹, Juan Diego Hernández-Camacho¹, Elodie Vimont¹, Etienne Kornobis², Thibault Chaze³, Quentin Giai Gianetto^3,4, Mariette Matondo³, Anastasia Gazi⁵, Ivan Nemanyy⁶, Daniella Hock⁷, Erminia Donnarumma¹, Timothy Wai¹

¹Institut Pasteur, Mitochondrial Biology Group, CNRS UMR 3691, Université Paris Cité, Paris, France.; ²Institut Pasteur, Biomics Technological Platform, Université Paris Cité, Paris, France.; ³Institut Pasteur, Bioinformatics and Biostatistics Hub, Université Paris Cité, Paris, France.; ⁴Institut Pasteur, Proteomics Core Facility, MSBio UtechS, UAR CNRS 2024, Université Paris Cité, Paris, France.; ⁵Institut Pasteur Ultrastructural Bio Imaging, UTechS, Université Paris Cité, Paris, France.; ⁶Platform for Metabolic Analyses, SFR Necker, INSERM US24/CNRS UMS 3633, Paris, France.; ⁷Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Australia.

Non-canonical function of succinate dehydrogenase assembly factor 2 (SDHAF2) during OXPHOS dysfunction

Kugapreethan Roopasingam¹, Joanna Sacharz¹, Tegan Stait², Yau chung Low^2,3, Ann E. Frazier^2,3, David P. De souza⁴, David R. Thorburn^2,3,5, David A. Stroud^1,3,5

¹Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia; ²Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia; ³Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia; ⁴Metabolomics Australia, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia; ⁵Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, VIC, Australia

NUAK1-dependent metabolic underpinnings of adult muscle stem cells

Ha-My Ly, Caroline Brun, Géraldine Meyer-Dihet, Julien Courchet, Rémi Mounier

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

Lucia Fernandez del Rio^1,2, Cristiane Benincá^1,2, Frankie Villalobos^1,2, Cynthia Shu^1,2, Linsey Stiles^1,2,3, Marc Liesa^1,2,4,5, Ajit S. Divakaruni^2,3, Rebeca Acin-Perez^1,2, Orian S. Shirihai^1,2,3,4

¹Department of Medicine, Endocrinology, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095 USA; ²Metabolism Theme, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095, USA; ³Department of Molecular and Medical Pharmacology, University of California, Los Angeles, CA, 90095, USA; ⁴Molecular & Cellular Integrative Physiology, University of California, Los Angeles, CA, 90095, USA.; ⁵Institut de Biologia Molecular de Barcelona, IBMB-CSIC, Barcelona, Catalonia, 08028, Spain

OxPhos defects cause cell-autonomous and whole-body signs of hypermetabolism in cells and in patients with mitochondrial diseases

Gabriel Sturm¹, Karan Kalpita¹, Anna S Monzel¹, Balaji Santhanam¹, Tanja Taivassalo², Céline Bris³, Atif Towheed¹, Albert Higgins-Chen⁴, Meagan McManus⁵, Andres Cardenas⁶, Jue Lin⁷, Elissa Epel⁷, Shamima Rahman⁸, Jon Vissing⁹, Bruno Grassi¹⁰, Morgan Levine¹¹, Steve Horvath¹¹, Ronald G Haller¹², Guy Lenaers³, Douglas C Wallace⁵, Marie-Pierre St-Onge¹, Saeed Tavasoie¹, Vincent Procaccio³, Brett A Kaufman¹³, Erin L Seifert¹⁴, Michio Hirano¹, Martin Picard¹

¹Columbia University Irving Medical Center, United States of America; ²University of Florida, United States of America; ³Angers University, UMR CNRS 6015 - INSERM U1083, MitoVasc Institute, Angers, France; ⁴Yale University, United States of America; ⁵University of Pennsylvania, United States of America; ⁶Stanford University, United States of America; ⁷University of California San Francisco, United States of America; ⁸Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; ⁹University of Copenhagen, Denmark; ¹⁰University of Udine, Italy; ¹¹Altos labs, United States of America; ¹²University of Texas Southwestern Medical Center, United States of America; ¹³University of Pittsburgh, United States of America; ¹⁴Thomas Jefferson University, United States of America

Dysfunction of mitochondrial chaperone HSP60 triggers disruption of mitochondrial pathways activating multiple regulatory responses

Cagla Cömert¹, Paula Fernandez-Guerra¹, Kasper Kjær-Sørensen², Jakob Hansen³, Jesper Just^4,5, Jasper Carlsen¹, Lisbeth Schmidt-Laursen², Johan Palmfeldt¹, Peter Bross¹

¹Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University, Aarhus, Denmark; ²Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark; ³Department of Forensic Medicine, Aarhus University, Aarhus, Denmark; ⁴Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark; ⁵Center of Functionally Integrative Neuroscience, Department of Clinical Medicine, Aarhus University, Aarhus, Denmark

Generation of iPSCs derived neural progenitors and cardiomyocytes as cellular models to study the pathophysiology of Pearson Syndrome

Chiara Fasano¹, Luca Sala^2,3, Camille Peron¹, Andrea Cavaliere¹, Maria Nicol Colombo¹, Valeria Tiranti¹

¹Unit of Medical genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ²Istituto Auxologico Italiano IRCCS, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy; ³Department of Biotechnology and Biosciences, University of Milano - Bicocca, Milan, Italy

High aerobic exercise capacity predicts increased mitochondrial response to exercise training

Estelle Heyne¹, Susanne Zeeb¹, Luren G Koch², Steven L Britton³, Torsten Doenst¹, Michael Schwarzer¹

¹Department of Cardiothoracic Surgery, University Hospital of Friedrich-Schiller-University Jena, Germany; ²Department of Physiology and Pharmacology, University of Toledo, Toledo, OH, United States; ³Department of Anesthesiology, University of Michigan, Ann Arbor, MI, United States

Investigating the role of LONP1 in heart and skeletal muscle metabolism

Franziska Baumann¹, Dieu Hien Rozsivalova¹, Katharina Senft¹, Simon Geißen², Aleksandra Trifunovic³

¹Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), 50931 Cologne, Germany; ²Department III of Internal Medicine, Heart Center, University Hospital of Cologne, 50931 Cologne, Germany; ³Center for Molecular Medicine Cologne (CMMC), 50931 Cologne, Germany

Mitochondrial dysfunction promotes liver fibrosis through the ACOT2-MCT6-OXCT1 axis.

Xiaoshan Zhou¹, Sophie Curbo¹, Wei Wang², Xinling Li², Jingyi Yan¹, Yu Lei¹, Raoul Kuiper³, Ujjwal Noegi¹, Anna Karlsson¹

¹Karolinska Institutet, Sweden; ²Zhengzhou University, China; ³Norwegian Veterinary Institute, Norway

PNC2 (SLC25A36) deficiency associated with the hyperinsulinism/hyperammonemia syndrome

Francesco Massimo Lasorsa¹, Deborah Fratantonio², Maher A. Shahroor³, Vito Porcelli¹, Bassam Abu-Libdeh³, Orly Elpeleg⁴, Luigi Palmieri¹

¹Università degli Studi di Bari Aldo Moro, Italy; ²Libera Università Mediterranea Giuseppe Degennaro, Italy; ³Department of Pediatrics and Genetics, Al Makassed Hospital and Al-Quds University, Palestine.; ⁴Department of Genetics, Hadassah, Hebrew University Medical Center, Israel

Cultured neurons with CoQ10 deficiency reveal alterations of lipid metabolism

Alba Pesini¹, Eliana Barriocanal-Casado¹, Giacomo Monzio-Compagnoni², Kleiner Giulio¹, Agustin Hidalgo-Gutierrez¹, Mohammed Bakkali³, Yashpal Singh Chhonker⁴, Saba Tadesse¹, Delfina Larrea¹, Daryl J Murry⁴, Caterina Mariotti⁵, Barbara Castellotti⁵, Luis Carlos Lopez³, Alesio Di Fonzo², Estela Area-Gomez¹, Catarina Quinzii¹

¹Department of Neurology, Columbia University Irving Medical Center, New York, NY, 10032, United States; ²IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy; ³Institute of Biotechnology, Biomedical Research Center (CIBM), Health Science Technological Park (PTS), University of Granada, Armilla, Granada, 18100, Spain; ⁴Department of Pharmacy Practice and Science, College of Pharmacy, University of Nebraska Medical Center, 986145 Nebraska Medical Center, Omaha, NE; ⁵Unita` di Genetica delle Malattie Neurodegenerative e Metaboliche, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, 20126, Italy

An engineered variant of MECR reductase reveals indispensability of long-chain acyl-ACPs for mitochondrial respiration

M. Tanvir Rahman¹, M. Kristian Koski², Joanna Panecka-Hofman^3,4, Werner Schmitz⁵, Alexander J. Kastaniotis¹, Rebecca C. Wade^4,6, Rik K. Wierenga¹, J. Kalervo Hiltunen¹, Kaija J. Autio¹

¹Faculty of Biochemistry and Molecular Medicine, University of Oulu, Finland; ²Biocenter Oulu, University of Oulu, Oulu, Finland; ³Faculty of Physics, University of Warsaw, Warsaw, Poland; ⁴Molecular and Cellular Modeling Group, Heidelberg Institute for Theoretical Studies (HITS), Heidelberg, Germany; ⁵Department of Biochemistry and Molecular Biology, University of Würzburg, Würzburg, Germany; ⁶Zentrum für Molekulare Biologie (ZMBH), DKFZ-ZMBH Alliance and Interdisciplinary Center for Scientific Computing (IWR), Heidelberg University, Heidelberg, Germany

Antibiotics directly affect mitochondrial respiration

Judith Sailer¹, Sabine Schmitt², Hans Zischka^1,3, Erich Gnaiger²

¹Technische Universität München, Germany; ²Oroboros Instruments GmbH, Innsbruck, Austria; ³Helmholtz Zentrum München, Germany

Can transmission of mitochondria over the species barrier promote climate change adaptation?

Kateryna Gaertner¹, Craig Michell², Riikka Tapanainen², Steffi Goffart², Sina Saari¹, Manu Soininmäki², Eric Dufour¹, Jaakko Pohjoismäki²

¹Tampere University, Finland; ²University of Eastern Finland

Developing an in vitro model to study the impact of the m.3243A>G mutation in iPSC-derived myofibers

Gabriel E. Valdebenito, Anitta R. Chacko, Michael R. Duchen

University College London, United Kingdom

Discordant phenotype in fibroblast cell lines generated from the same MELAS patient

Monica Moresco¹, Valentina Concetta Tropeano¹, Valentina Del Dotto², Mariantonietta Capristo¹, Claudio Fiorini¹, Danara Ormanbekova¹, Chiara La Morgia^1,2, Maria Lucia Valentino^1,2, Valerio Carelli^1,2, Alessandra Maresca¹

¹IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy; ²Department of Biomedical and Neuromuscular Sciences (DIBINEM), University of Bologna

Generation of a novel CoQ deficient mouse model to elucidate the role of COQ4

Eliana Barriocanal Casado, Agustin Hidalgo-Gutierrez, Alba Pesini, Catarina M Quinzii

Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.

Perivascular adipose tissue remodeling impairs mitochondrial function in thermoneutral-housed rats

Amy C Keller¹, Melissa M Henckel¹, Leslie A Knaub¹, Greg B Pott¹, Georgia James², Jane E-B Reusch¹

¹University of Colorado/Rocky Mountain Regional VA Medical Center, United States of America; ²Cornell College, United States of America

Temporal analysis of mitochondrial complexome profiling coupled to multi-omics analysis unveils implications of CIV remodelling in postnatal heart development

Milica Popovic, Aleksandra Trifunovic

University of Cologne, Germany

Mitochondrial dysfunction in immune cells leads to distinct transcriptome profile and improved immune competence in Drosophila

Yuliya Basikhina¹, Laura Vesala^1,2, Tea Tuomela¹, Emilia Siukola¹, Anssi Nurminen¹, Pedro F. Vale³, Tiina S. Salminen¹

¹Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland; ²Department of Molecular Biology, Umeå University, Umeå, Sweden; ³Institute of Evolutionary Biology, School of Biological Sciences, University of Edinburgh, United Kingdom

Molecular mechanisms of extraocular muscle manifestation in mitochondrial myopathy

Swagat Pradhan, Takayuki Mito, Thomas McWilliams, Nahid Khan, Anu Suomalainen

STEMM, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland

Redox metabolites and transporters: Differential expression and ratios in specific Ndufs4 knockout mice organs.

Jeremie Zander Lindeque, Marthinus Theodorus Jooste, Daneël Nel, Belinda Fouché, Marianne Venter

Human Metabolomics, North-West University, South Africa

What makes folding of a mitochondrial protein dependent on the HSP60/HSP10 chaperone complex?

Peter Bross, Cagla Cömert, Paula Fernandez-Guerra, Johan Palmfeldt

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

Maria Pazos-Gil, Marta Medina-Carbonero, Arabela Sanz-Alcázar, Marta Portillo-Carrasquer, Fabien Delaspre, Elisa Cabiscol, Joaquim Ros, Jordi Tamarit

Dept. Ciències Mèdiques Bàsiques, Fac. Medicina, Universitat de Lleida. IRB Lleida.

Disease causing-Mfn2 mutations alter mitochondrial fusion and fission dynamics and metabolism.

Daniel Lagos^1,2, Nicolas Perez², Pamela R. de Santiago², Diego Troncoso², Benjamin Cartes-Saavedra², Rita Horvath¹, Veronica Eisner²

¹Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK.; ²School of Biological Sciences, Department of Cellular and Molecular Biology, Pontificia Universidad Catolica de Chile, Santiago, Chile.

Dissecting the mitochondrial disease-associated ATAD3 gene cluster and its pathogenic variants

Linden Muellner-Wong^1,2, Ann E. Frazier^2,3, Eric Hanssen⁴, Tegan Stait^2,3,5, Alice J. Sharpe⁶, Danielle L. Rudler^7,8,9, Shuai Nie¹⁰, Luke E. Formosa⁶, Michael T. Ryan⁶, Aleksandra Filipovska^7,8,9, David R. Thorburn^2,3,5, David A. Stroud^1,2,5

¹Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Victoria,Australia; ²Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia; ³Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia; ⁴Ian Holmes Imaging Centre, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Melbourne, Victoria, Australia; ⁵Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia; ⁶Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, Victoria, Australia; ⁷Harry Perkins Institute of Medical Research and The University of Western Australia Centre for Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia; ⁸ARC Centre of Excellence in Synthetic Biology, QEII Medical Centre and University of Western Australia, Nedlands, Western Australia, Australia; ⁹Telethon Kids Institute, Northern Entrance, Perth Children's Hospital, 15 Hospital Avenue, Nedlands, Western Australia, Australia; ¹⁰Mass Spectrometry and Proteomics Facility, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Victoria, Australia

Dynamics of adenine nucleotides in colorectal cancer clinical material

Sten Miller^1,2, Leenu Reinsalu^1,2, Marju Puurand¹, Natalja Timohhina¹, Kersti Tepp¹, Igor Sevchuk¹, Indrek Reile¹, Heiki Vija¹, Vahur Valvere³, Jelena Bogovskaja³, Tuuli Käämbre¹

¹National Institute of Chemical Physics and Biophysics, Estonia; ²Tallinn University of Technology, Estonia; ³North Estonia Medical Centre

The role of SURF1 protein in cytochrome c oxidase biogenesis

Maria Jose Saucedo Rodriguez¹, Petr Pecina¹, Kristýna Čunátová¹, Marek Vrbacký¹, Alena Pecinová¹, Roman Sobotka², Carlo Viscomi³, Massimo Zeviani⁴, Tomáš Mráček¹, Josef Houštěk¹

¹Institute of Physiology of the Czech Academy of Sciences, Czech Republic; ²Institute of Microbiology, Czech Academy of Sciences, Trebon, Czech Republic; ³Departement of Biomedical Sciences, University of Padova, Padova, Italy; ⁴Departement of Neurosciences, University of Padova, Padova, Italy

Depicting inclusion body myositis using a patient-derived fibroblast model

Judith Cantó Santos^1,2,3, Laura Valls Roca^1,2,3, Ester Tobías^1,2,3, Francesc Josep García García^1,2,3, Mariona Guitart Mampel^1,2,3, Félix Andújar Sánchez^1,2,3, Anna Esteve Codina^4,5, Beatriz Martín Mur⁴, Mercedes Casado^3,6, Rafael Artuch^3,6, Estel Solsona Vilarrasa^7,8, José Carlos Fernández Checa^7,8, Carmen García Ruiz^7,8, Carles Rentero⁹, Carlos Enrich⁹, Pedro Juan Moreno Lozano^1,2,3, José César Milisenda^1,2,3, Francesc Cardellach^1,2,3, Josep Maria Grau Junyent^1,2,3, Glòria Garrabou^1,2,3

¹Laboratory of Inherited Metabolic Disorders and Muscle Disease, Centre de Recerca Biomèdica CELLEX - Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) and Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain; ²Department of Internal Medicine, Hospital Clinic of Barcelona, Barcelona, Spain; ³CIBERER— Spanish Biomedical Research Centre in Rare Diseases, Madrid, Spain; ⁴CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain; ⁵Universitat Pompeu Fabra (UPF), Barcelona, Spain; ⁶Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu; Esplugues de Llobregat, Barcelona, Spain; ⁷Department of Cell Death and Proliferation, Institute of Biomedical Research of Barcelona (IIBB-CSIC), Liver Unit-HCB-IDIBAPS, Barcelona, Spain; ⁸CIBEREHD-Spanish Biomedical Research Centre in Hepatic and Digestive Diseases, Madrid, Spain; ⁹Department of Biomedicine, Cell Biology Unit, CELLEX-IDIBAPS, Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain

Effect of physiological cell culture media on cell viability and NRF2 activation

Anton Terasmaa, Rutt Taba, Marie Põlluaed, Tuuli Käämbre

National Institute of Chemical and Biological Physics, Estonia

Genetic and functional characterization of a new patient with COX4I1 deficiency

Frederic Tort¹, Olatz Ugarteburu¹, Gerard Muñoz-Pujol¹, María Unceta², Ainhoa García², Arantza Arza², Javier de las Heras², Antonia Ribes¹, Laura Gort¹

¹Hospital Clinic, IDIBAPS, CIBERER, Barcelona, Spain; ²Hospital Universitario de Cruces, Spain

Application of the Escherichia coli Model System to Study the Human Polyribonucleotide Phosphorylase

Roberto Pizzoccheri, Federica Anna Falchi, Andrea Alloni, Francesca Forti, Sarah Sertic, Giulio Pavesi, Federica Briani

Università degli Studi di Milano, Italy

Phase two biotransformation is highly affected by mitochondrial disease: considerations for pharmacological therapies.

Marianne Venter, Belinda Fouché, Louis Mostert, Zander Lindeque, Rencia van der Sluis

Human Metabolomics, North-West University, South Africa

Mitochondrial phenotyping of fibroblasts from Kearns Sayre’s patients to model the disease

Laura Valls-Roca^1,2,3, Judith Cantó-Santos^1,2,3, Ester Tobías^1,2,3, Francesc Josep García-García^1,2,3, Félix Andújar-Sánchez^1,2, Laia Farré-Tarrats^1,2, Cristina Núñez de Arenas^3,6, Rocío Garrido-Moraga⁵, Joan Padrosa^1,2, Raquel Aránega^1,2, Pedro J. Moreno-Lozano^1,2,3, José César Milisenda^1,2, Mar O’Callaghan^3,4, Teresa García-Silva^3,5, Montserrat Morales-Conejo^3,5, Rafael Artuch^3,4, Miguel Ángel Martín^3,5, José M. Cuezva^3,6, Josep M. Grau-Junyent^1,2,3, Mariona Guitart-Mampel^1,2,3, Glòria Garrabou^1,2,3

¹Laboratory of Inherited Metabolic Disorders and Muscle Disease, Centre de Recerca Biomèdica CELLEX - Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences - Universitat de Barcelona (UB); Barcelona, Spain.; ²Internal Medicine Department - Hospital Clínic de Barcelona; Barcelona, Spain.; ³CIBERER—Spanish Biomedical Research Centre in Rare Diseases; Madrid, Spain.; ⁴Hospital Sant Joan de Déu (HSJdD) de Barcelona, Barcelona, Spain.; ⁵Grupo de Enfermedades Mitocondriales, Instituto de Investigación Hospital 12 de Octubre (imas12). Madrid. Spain.; ⁶Centro de Biología Molecular S.O., Universidad Autónoma de Madrid (UAM); Madrid, Spain.

Effect of various mutations in the GTPase and middle domain of Drp1 on the mitochondrial network, nucleoids, and peroxisomes

Nikol Volfová¹, Aleš Hnízda¹, Lukáš Alán², Robert Dobrovolný¹, Jakub Sikora¹, Jana Křížová¹, Lucie Zdražilová¹, Hana Hansíková¹, Jiří Zeman¹, Markéta Tesařová¹

¹Department of Paediatrics and Inherited Metabolic Disorders, Charles University and General University Hospital in Prague, Prague, Czech Republic; ²Institute of Physiology, The Czech Academy of Sciences, Prague, Czech Republic

Importance of human ClpXP protease for mitochondrial function

Daniela Burska, Jana Tesarova, Jana Krizova, Nikol Volfova, Hana Hansikova, Jiri Zeman, Lukas Stiburek

First Faculty of Medicine, Charles University; and General University Hospital in Prague

Ketogenic diet mitigates the pathogenic phenotype in TMEM70 deficient animal models

Aleksandra Marković¹, Petr Pecina¹, Alena Pecinová¹, Marek Vrbacký¹, Jana Mikešová¹, Hana Nuskova¹, Kateřina Tauchmannová¹, Otto Kučera³, Zuzana Cervinkova³, Radislav Sedláček², Josef Houštěk¹, Tomáš Mráček¹

¹Institute of Physiology of the Czech Acad. Sci., Prague, Czech Republic; ²Institute of Molecular Genetics of the Czech Acad. Sci., Prague, Czech Republic; ³Faculty of Medicine, Charles University, Hradec Kralove, Czech Republic

Mutation in Coq5 leads to CoQ10 deficiency, developmental delay and early death in zebrafish

Sergio López-Herrador¹, Julia Corral-Sarasa², Macarena Gil¹, Yaco Morillas¹, Luis C. López^1,2, Mª. Elena Díaz-Casado^1,2

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

Omega-3 supplementation effects on mitochondrial and metabolic profile in a rabbit model of intrauterine growth restriction

Félix Andújar-Sánchez^1,2,3, Mariona Guitart-Mampel^1,2,3, Míriam Illa^3,4, Ester Tobías^1,2,3, Laura Valls-Roca^1,2,3, Judith Cantó-Santos^1,2,3, Laia Farré-Tarrats^1,2,3, Clara Oliva^3,5, Francesc Cardellach^1,2,3, Rafael Artuch^3,5, Fàtima Crispi^3,4, Glòria Garrabou^1,2,3, Francesc J García-García^1,2,3

¹Inherited metabolic diseases and muscular disorders Lab, Cellex - Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Science - University of Barcelona (UB), 08036 Barcelona, Spain; ²Internal Medicine Unit, Medicine Department, Hospital Clínic of Barcelona, 08036 Barcelona, Spain; ³Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain; ⁴BCNatal—Barcelona Centre for Maternal-Foetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Déu), IDIBAPS, University of Barcelona, 08036 Barcelona, Spain; ⁵Department of Clinical Biochemistry, Institut de Recerca de Sant Joan de Deu, Esplugues de Llobregat, 08036 Barcelona, Spain

Redundant and divergent roles of COQ8A and COQ8B in cell metabolism.

Agata Valentino¹, Elisa Baschiera¹, Iolanda Spera², Luna Laera², Valentina Giorgio³, Alessandra Castegna², Leonardo Salviati¹, Maria Andrea Desbats¹

¹Clinical Genetics Unit, Department of Women and Children’s Health, University of Padova and “Fondazione Istituto di Ricerca Pediatrica Città Della Speranza”, 35127 Padova, Italy.; ²Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari Aldo Moro, 70121 Bari, Italy; ³Department of Biomedical and Neuromotor Sciences, University of Bologna, I-40126 Bologna, Italy.

Loss of CHCHD8 (COA4) caused mitochondrial respiratory Complex IV deficiency

Taku Amo, Yuga Hikage

National Defense Academy, Japan

Delving into the phenotypic heterogeneity of Coenzyme Q biosynthesis defects

Ariadna Crespo-González¹, María del Mar Blanquer-Rosselló^1,2, Laura García-Corzo^1,2, Carmine Staiano^1,2, María Chacón¹, Ana Belén Cortés-Rodríguez³, Estefanía Sanabria-Reinoso¹, María Almuedo-Castillo¹, Miguel Ángel Moreno-Mateos^1,2, Gloria Brea-Calvo^1,2

¹Centro Andaluz de Biología del Desarrollo/Universidad Pablo de Olavide-CSIC-JA, Seville, Spain; ²CIBERER, Instituto de Salud Carlos III, Madrid, Spain; ³Laboratorio de Fisiopatología Celular y Bioenergética, Seville, Spain.

Investigating the impact of mtDNA point mutations on mitochondrial function and bioenergetics using patient fibroblasts and hiPSC derived neuronal models

Anitta Rose Chacko, Gabriel Esteban Valdebenito, Michael R Duchen

University College London, United Kingdom

Human COQ10A and COQ10B genes are essential for Coenzyme Q function in mitochondrial respiration

Elisa Baschiera¹, Carlo Viscomi¹, Maria Andrea Desbats², Placido Navas³, Leonardo Salviati^1,2

¹University of Padova, Italy; ²Isituto di Ricerca Pediatrica - Cittá della Speranza, Italy; ³Pablo de Olavide University, Sevilla, Spain

The use of β-RA in leptin-deficient mice reveals novel mechanisms of this compound for the treatment of obesity

Sara Torres-Rusillo¹, Sergio López-Herrador¹, Pilar González-García¹, Mª. Elena Díaz-Casado^1,2, Laura Jiménez-Sánchez², Julia Corral-Sarasa², Julio Ruiz-Travé¹, Luis C. López^1,2

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

Oocyte-specific mitofusin 2 knockout enhances the metabolic disfunction of offspring born to obese mothers

Jaiane Santana da Paz, Angélica Camargo dos Santos, Lindomar Oliveira Alves, Julio Cesar Valerio Roncato, Renan Omete Ferreira, Victória Hass Gonçalves, Mirela Souza Cáceres, Marcos Roberto Chiaratti

Federal University of Sao Carlos, Brazil

Off-target effects of etomoxir: inhibition of mitochondrial Complex I and fatty acid oxidation

Timea Komlódi^1,2, Filomena SG Silva³, Ana I Duarte^3,4,5, Débora Mena^3,5,6, Luiz F Garcia-Souza¹, Marina Makrecka-Kuka⁷, Guida Bento³, Luís F Grilo^3,5,6, Paulo J Oliveira³, Erich Gnaiger¹

¹Oroboros Instruments, Innsbruck, Austria; ²Dept Biochem, Semmelweis Univ, Budapest, Hungary; ³CNC-Center Neurosci and Cell Biol, Univ Coimbra, Portugal; ⁴IIUC-Inst Interdisciplinary Research, Univ Coimbra, Portugal; ⁵CIBB-Center for Innovative Biomed Biotechnol, Univ Coimbra, Portugal; ⁶PDBEB-PhD Programme in Exp Biol Biomed, IIUC, Univ Coimbra, Portugal; ⁷Lab Pharmaceut Pharmacol, Latvian Inst Organic Synthesis, Riga, Latvia

Mitochondrial alterations in sirtuin1 heterozygous mice fed high fat diet and melatonin

Alessandra Stacchiotti^1,2, Francesca Arnaboldi¹, Gaia Favero³, Aleksandra Korac⁴, Maria Monsalve⁵, Rita Rezzani³

¹Dept Biomedical Sciences for Health, University of Milan, Milan, Italy; ²Laboratorio Morfologia Umana Applicata, IRCCS Policlinico San Donato, Milan, Italy; ³Dept Clinical and Experimental Sciences, University of Brescia, Brescia, Italy; ⁴Center for Electron Microscopy, University of Belgrade, Belgrade, Serbia; ⁵Instituto de Investigaciones Biomedicas “Alberto Sols” (CSIC-UAM), Madrid, Spain

Microproteins in metabolic regulation

Jiemin Nah¹, Baptiste Kerouanton¹, David Robinson², Kyle Dunlap³, Pooja Sridnivasan¹, Sonia Chothani¹, Greg Ducker³, Owen Rackham⁴, David Stroud², Lena Ho¹

¹Duke-NUS Medical School, Singapore; ²University of Melbourne, Australia; ³University of Utah, USA; ⁴University of Southampton, UK

Oxphos deficiency indicates novel functions for the mitochondrial protein import subunit tim50

Jordan J Crameri¹, Catherine S Palmer¹, David Coman², David A Stroud¹, David R Thorburn^3,4,5, Ann E Frazier^3,4, Diana Stojanovski¹

¹Department of Biochemistry and Pharmacology and the Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, 3010, Australia; ²Queensland Children’s Hospital, Department of Metabolic Medicine, South Brisbane, Brisbane, Queensland, 4001, Australia; ³Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Victoria, 3052, Australia; ⁴Department of Paediatrics, University of Melbourne, Melbourne, Victoria, 3052, Australia; ⁵Victorian Clinical Genetics Services, Royal Children’s Hospital, Melbourne, Victoria, 3052, Australia

The levels and activation state of the pyruvate dehydrogenase complex modulate the SCAFI-dependent organization of the mitochondrial respiratory chain

Sandra Lopez-Calcerrada¹, Ana Sierra-Magro¹, Erika Fernández-Vizarra², Cristina Ugalde^1,3

¹Instituto de Investigación Hospital 12 de Octubre, Madrid 28041, Spain; ²Department of Biomedical Sciences, University of Padova, 35131 Padova, Italy; ³Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723, Madrid, Spain

Development of a yeast model to characterize OPA1 mutations associated with different neuromuscular disorders

Cristina Calderan¹, Marco Marchi¹, Mara Doimo¹, Maria Andrea Desbats¹, Geppo Sartori², Leonardo Salviati¹

¹Clinical Genetics Unit, Department of Women’s and Children’s Health, University of Padua, and Istituto di Ricerca Pediatrica (IRP) Città della Speranza, Padua, Italy; ²Department of Biomedical Sciences, University of Padua, Padua, Italy

An ultra-special family with an ultra-rare condition: three children with mithochondrial complex III deficiency due to homozygous mutations in Lyrm7

Francesca Manzoni, Titia Anita Wischmeijer, Elisa Boni, Lucio Parmeggiani, Andrea Bordugo, Francesca Pellegrini

Bolzano Hospital, Italy