EUROMIT 2023 - International Meeting on Mitochondrial Pathology

SARM1 deletion delays cerebellar but not spinal cord degeneration in an enhanced mouse model of SPG7 deficiency

Carolina Montoro^1,2, Hendrik Nolte³, Thibaut Molinie^1,2, Giovanna Evangelista^1,2, Simon Tröder², Esther Barth^1,2, Branko Zeivnik², Thomas Langer^2,3, Elena Rugarli^1,2,4

¹Institute for Genetics, University of Cologne, Cologne 50931, Germany; ²Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Cologne 50931, Germany; ³Max Planck Institute for Biology of Ageing, Cologne 50931, Germany; ⁴Center for Molecular Medicine (CMMC), University of Cologne, Cologne 50931, Germany

Pathobiology of cerebellar degeneration in the Harlequin mouse, a proteomic and system biology approach

Miguel Fernández de la Torre¹, Carmen Fiuza-Luces¹, Sara Laine-Menéndez¹, Aitor Delmiro^1,2,3, Joaquín Arenas^1,2, Miguel A Martín^1,2,4, Alejandro Lucía^5,6, María Morán^1,2

¹Mitochondrial and Neuromuscular Diseases Laboratory, Instituto de Investigación Sanitaria Hospital ‘12 de Octubre’ (‘imas12’), Madrid, Spain; ²Spanish Network for Biomedical Research in Rare Diseases (CIBERER), U723, Spain.; ³Servicio de Bioquímica Clínica. Hospital Universitario ‘12 de Octubre’. Madrid, Spain; ⁴Servicio de Genética. Hospital Universitario ‘12 de Octubre’. Madrid, Spain; ⁵Faculty of Sports Sciences, European University of Madrid, Madrid, Spain; ⁶Spanish Network for Biomedical Research in Fragility and Healthy Aging (CIBERFES), Madrid, Spain

The role of mitochondrial transcriptional processes in the aetiology of Parkinson’s disease

Aine Fairbrother-Browne^1,2,3, Ana Luisa Gil-Martínez^3,5, Mina Ryten^2,3,4, Alan Hodgkinson¹

¹Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King’s College London, London, United Kingdom; ²Department of Genetics and Genomic Medicine Research & Teaching, UCL GOS Institute of Child Health, London, WC1N 1EH, UK; ³Department of Neurodegenerative Disease, Queen Square Institute of Neurology, UCL, London WC1N 3BG, UK; ⁴NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, WC1N 1EH, UK; ⁵Department of Information and Communications Engineering Faculty of Informatics, Espinardo Campus, University of Murcia, Murcia, 30100, Spain

Exploiting hiPSCs-derived astrocytes from CoPAN patients as cell model to study iron accumulation.

Anna Cozzi¹, Paolo Santambrogio¹, Maddalena Ripamonti^1,2, Chiara Cavestro³, Alicia Rubbio⁴, Ivano Di Meo³, Valeria Tiranti³, Sonia Levi^1,2

¹San Raffaele Scientific Institute; ²Vita-Salute San Raffaele, Italy; ³Fondazione IRCCS Istituto Neurologico Carlo Besta; ⁴Institute of Neuroscience National Research Council

Secondary mitochondrial impairment in muscle of pediatric patients unrelated to the genes diagnosed by WES: are these mitochondrial diseases?

Flavia Palombo¹, Mariantonietta Capristo¹, Claudio Fiorini¹, Concetta Valentina Tropeano¹, Valentina Del Dotto^1,2, Leonardo Caporali¹, Maria Lucia Valentino^1,2, Veronica Di Pisa³, Gaetano Cantalupo⁴, Marco Seri^5,6, Duccio Maria Cordelli^3,5, Caterina Garone^3,5, Valerio Carelli^1,2

¹IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; ²Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; ³IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell'Età Pediatrica, Bologna, Italy; ⁴Child Neuropsychiatry Unit, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy; ⁵Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy; ⁶Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy

In vitro 2D and 3D neuronal model generation of MERRF disease to test therapeutic strategies

Giada Capirossi^1,2, Valentina Del Dotto², Mariantonietta Capristo¹, Giulia Sacchetti¹, Claudio Fiorini¹, Leonardo Caporali², Chiara La Morgia^1,2, Annalinda Pisano³, Carla Giordano³, Giulia D'Amati³, Alessandro Prigione⁴, Alessandra Maresca¹, Valerio Carelli^1,2

¹IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; ²Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; ³Department of Radiological, Oncological and Pathological Sciences, Sapienza, University of Rome, Rome, Italy; ⁴Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany

Nucleus-associated mitochondria (NAM) control neuronal Ca2+ signalling and gene expression

Danilo Faccenda^1,3, Radha Desai², Eva Sidlauskaite³, Steven Lynham⁴, Jill Richardson², Michelangelo Campanella^3,5

¹University of Hertfordshire, Department of Clinical, Pharmaceutical and Biological Science, Hatfield, United Kingdom; ²Discovery Research MRL UK, MSD, LBIC, London, United Kingdom; ³William Harvey Research Institute, Queen Mary University of London, London, United Kingdom; ⁴Proteomics Facility, Centre of Excellence for Mass Spectrometry, King’s College London, London, United Kingdom; ⁵University of Padua, Department of Biomedical Sciences, Padua, Italy

Autophagy controls the pathogenicity of OPA1 mutations in ADOA plus

Paola Zanfardino¹, Alessandro Amati¹, Easter Petracca¹, Filippo M. Santorelli², Vittoria Petruzzella¹

¹Department of Translational Biomedicine and Neuroscience (DiBraiN), University of Bari Aldo Moro, Bari, Italy; ²Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Pisa, Italy

Investigating the function of CHCHD2-CHCHD10 complexes in mitochondria

Kevin McAvoy¹, Nicole Sayles¹, Nneka Southwell¹, Anna Stepanova¹, Alba Pessini², Catarina Quinzii², Giovanni Manfredi¹

¹Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, NY, USA; ²Department of Neurology, Columbia University Medical Center, New York, NY, USA

Sildenafil restores normal MMP in MILS-NPCs with impaired Complex V assembly and activity

Giulia Pedrotti¹, Annika Zink², Chiara Santanatoglia¹, Marie-Thérèse Henke³, Alessia Di Donfrancesco⁴, Dario Brunetti^4,5, Valeria Tiranti⁴, Markus Schuelke³, Alessandro Prigione^2,6, Emanuela Bottani¹

¹University of Verona, Italy; ²Department of General Pediatrics, Neonatology and Pediatric Cardiology, Duesseldorf University Hospital, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany; ³Charité-Universitätsmedizin Berlin, Department of Neuropediatrics, Berlin, Germany; ⁴Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico "C.Besta", Milan, Italy; ⁵Mitochondrial Medicine Laboratory, Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy; ⁶Max Delbrueck Center for Molecular Medicine (MDC), 13125 Berlin, Germany

Mitochondrial dysfunction due to mRNA transport defects as a mechanism of neurodegeneration? Unraveling the role of TBCK in a human neuronal model

Marco Flores-Mendez¹, Jesus TIntos-Hernandez¹, Xilma R Ortiz-Gonzalez^1,2

¹Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia; ²Division of Neurology, The Children's Hospital of Philadelphia

Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q

Chiara Diquigiovanni^1,2,3, Nicola Rizzardi⁴, Antje Kampmeier⁵, Irene Liparulo⁴, Francesca Bianco^1,6, Bianca De Nicolo^1,2, Erica Cataldi-Stagetti^1,2, Miriam Bertrand⁷, Tobias B. Haack^7,8, Adela Della Marina⁹, Frederik Braun⁹, Alma Kuechler⁵, Romana Fato⁴, Christian Bergamini⁴, Elena Bonora^1,2

¹Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy, 40138; ²U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy, 40138; ³Center for Applied Biomedical Research (CRBA), University of Bologna, Bologna, Italy, 40138; ⁴Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy, 40126; ⁵Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany, 45122; ⁶Department of Veterinary Sciences, University of Bologna, Bologna, Italy, 40064; ⁷Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany, 72076; ⁸Center for Rare Diseases, University of Tübingen, Tübingen, Germany, 72076; ⁹Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, Essen, Germany, 45122

Investigating FA physiopathology in human iPSC-derived DRG organoïds

Valentine Mosbach¹, Adèle Hennick¹, Marek Napierala², Hélène Puccio¹

¹Institut NeuroMyoGene, PGNM UMR5261, INSERM U1315, Université Claude Bernard Lyon I Faculté de médecine Rockefeller, Lyon 08 France; ²UT Southwestern Medical Center, 5323 Harry Hines Blvd. Suite NL.9.108 TX75390-8813 Dallas USA

A novel TUBB2A variant associated with pediatric neurodegeneration links microtubule stability to mitochondrial function

Jesus A Tintos-Hernandez¹, Charis Ma¹, Holly Dubbs², Cesar A Alves³, Francesca Bartolini⁴, Xilma R Ortiz-Gonzalez^1,2

¹Center for Mitochondrial and Epigenomic Medicine, The Children’s Hospital of Philadelphia; ²Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia; ³Department of Radiology, The Children’s Hospital of Philadelphia; ⁴Department of Pathology and Cell Biology, Columbia University

Characterization and functional analysis of a zebrafish knockdown of the mitochondrial DNA replication gene ssbp1

Julian Perrin¹, Vincent Gisbert¹, Nicolas Cubedo², Sandra Triacca¹, Hala Alzaeem¹, Dalia Chakra¹, Mireille Rossel², Marie Péquignot¹, Cécile Delettre¹

¹Institute for Neurosciences of Montpellier (INM) U1298, France; ²Molecular Mechanisms in Neurodegenerative Dementia (MMDN) U1198, France

Defining the nuclear genetic architecture of a maternally-inherited mitochondrial disorder

Róisín M Boggan¹, Yi Shiau Ng¹, Imogen G Franklin¹, Charlotte L Alston^1,2, Emma L Blakely^1,2, Boriana Buchner³, Enrico Bugiardini⁴, Kevin Colclough⁵, Grainne S Gorman¹, Catherine Feeney¹, Michael G Hanna⁴, Andrew T Hattersly⁶, Thomas Klopstock^3,7,8, Cornelia Kornblum⁹, Michelangelo Mancuso¹⁰, Kashyap A Patel⁶, Robert D S Pitceathly⁴, Chiara Pizzamiglio⁴, Holger Prokisch^11,12, Jochen Schafer¹³, Andrew M Schaefer¹, Maggie H Shepherd⁶, Annemarie Thaele¹⁴, Rhys Thomas¹, Doug M Turnbull¹, Cathy E Woodward¹⁵, Robert McFarland¹, Robert W Taylor^1,2, Heather J Cordell¹⁶, Sarah J Pickett¹

¹Wellcome Centre for Mitochondrial Research and Institute for Translational and Clinical Research, ewcastle University, United Kingdom; ²NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; ³Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-University (LMU Klinikum), Munich, Germany; ⁴Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK; ⁵Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK; ⁶Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK; ⁷Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; ⁸German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; ⁹Department of Neurology, University Hospital Bonn, Bonn, Germany; ¹⁰Neurological Institute of Pisa, Italy; ¹¹Institute of Human Genetics, School of Medicine, Technische Universität München, München, Germany; ¹²Institute of Neurogenomics, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany; ¹³Department of Neurology, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany; ¹⁴Department of Neurology, Martin-Luther-University Halle-Wittenberg, 06120 Halle (Saale), Germany; ¹⁵Neurogenetics Unit, The National Hospital for Neurology and Neurosurgery, London, UK; ¹⁶Population Health Sciences Institute, Newcastle University, UK

OPA3 loss causes alterations in mitocondrial dynamics and autophagy processes

Concetta Valentina Tropeano¹, Valentina Del Dotto², Emanuela Scimonelli², Danara Ormanbekova¹, Claudio Fiorini¹, Valerio Carelli^1,2, Alessandra Maresca¹

¹IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, via Altura 3, 40139, Bologna, Italy; ²Department of Biomedical and NeuroMotor Sciences, University of Bologna, via Altura 3, 40139, Bologna, Italy

Mitochondrial dysfunction in dorsal root ganglia in Friedreich ataxia mouse and cell models: role of SirT3

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

Dept. Ciències Mèdiques Bàsiques, Fac. Medicina, Universitat de Lleida. IRBLleida. Lleida (Spain).

MPTP-induced parkinsonism in zebrafish provokes chronodisruption-related loss of daily melatonin and locomotor activity rhythms and mitochondrial dynamics shift, which are restored by melatonin treatment

Paula Aranda Martínez^1,2, Jose Fernández Martínez^1,2, Yolanda Ramírez Casas^1,2, Ana Guerra Librero^1,2,3, Germaine Escames^1,2,3, Darío Acuña Castroviejo^1,2,3

¹Departamento de Fisiología, Facultad de Medicina, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.; ²Instituto de Investigación Biosanitaria de Granada (Ibs.Granada), Granada, Spain.; ³Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable (CIBERfes), Madrid, Spain.

Activation of integrated mitochondrial stress response in PRKN Parkinson Disease

Francesc Josep García García¹, Íngrid González Casacuberta¹, Liliya Euro², Mario Ezquerra³, Constanza Morén¹, Aida Ormazabal⁴, Mariona Guitart Mampel¹, Mercedes Casado⁴, Ester Tobías¹, Judith Cantó Santos¹, Laura Valls Roca¹, Laia Farré Tarrats¹, Félix Andújar Sánchez¹, Lorena de Mena³, Francesc Carmona⁵, Manuel Palacín⁶, María José Martí³, Rafael Artuch⁴, Rubén Fernández Santiago³, Glòria Garrabou¹

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), Department of Internal Medicine - Hospital Clínic of Barcelona (HCB), 08036 Barcelona, Spain, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, U722), 28029 Madrid, Spain.; ²Research Program of Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki 00290, Finland; HUSlab, Helsinki University Hospital, Helsinki 00290, Finland;; ³Laboratory of Parkinson Disease and Other Neurodegenerative Movement Disorders, IDIBAPS-Hospital Clínic de Barcelona, Institut de Neurociències, UB, 08036 Barcelona, Spain and Centre for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED CB06/05/0018), 28029 Madrid, Spain.; ⁴Department of Clinical Biochemistry, Institut de Recerca de Sant Joan de Deu, Esplugues de Llobregat, 08036 Barcelona, Spain, and CIBERER, 28029 Madrid, Spain.; ⁵Department of Statistics, Biology Faculty, UB, Barcelona, Spain; ⁶Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology (BIST), 08028 Barcelona, Spain; Department of Biochemistry and Molecular Biomedicine, UB, E-08028 Barcelona, Spain; U731, CIBERER, 08028 Barcelona, Spain;

Delineating the neurodegenerative mechanisms underpinning epilepsy in Alpers’ syndrome

Laura Alexandra Smith^1,2, Chun Chen^1,2, Alasdair Blain^1,2, Robert W Taylor^1,2,3, Gráinne Gorman^1,2,3, Nichola Z Lax^1,2, Daniel Erskine^1,2, Robert McFarland^1,2,3

¹Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK; ²Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK; ³NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK

Modulation of mitophagy, mitochondrial and autophagy phenotypes in LRRK2 Parkinson’s patient fibroblast-derived dopaminergic neurons by small molecules

Francesco Capriglia¹, Tia Parker¹, Tom Leah¹, Hasan Ali¹, Katy Barnes¹, Chris Frank², Thomas Nieland², Heather Moeriboys¹

¹Sheffield Institute for Translational Neuroscience (SITraN), The University of Sheffield, Sheffield, UK.; ²Verge Genomics, South San Francisco, CA, USA.

Mitochondrial dysfunction is involved in progranulin-related frontotemporal dementia

Javier S. Bautista¹, Micol Falabella¹, Shanti Lu¹, Cathy E. Woodward², Robyn Labrum², Jonathan Rohrer³, Helene Plun-Favreau⁴, Selina Wray⁴, Jan-Willam Taanman⁵, Robert D.S. Pitceathly^1,6

¹Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK; ²Neurogenetics Unit, Rare and Inherited Disease Genomic Laboratory, North Thames Genomic Laboratory Hub, London, UK; ³Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK; ⁴Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK; ⁵Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London, UK; ⁶NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK

Morphological characterization of the progression of mitochondrial encephalopathy associated with CoQ10 deficiency

Juan M. Martínez-Gálvez^1,2, Laura Jiménez-Sánchez³, Pilar González-García^1,3, Julia Corral-Sarasa³, Mª. Elena Díaz-Casado^1,3, Luis C. López^1,3

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

Metabolic rewiring in iPSCs-derived neuron progenitor cells of patients with mutations of mitochondrial SLC25A12/AGC1 carrier

Maria Chiara Magnifico¹, Simona Nicole Barile¹, Eleonora Poeta², Luigi Viggiano¹, Sabrina Petralla², Giuseppe Fiermonte¹, Nicola Balboni², Federico Manuel Giorgi², Antonella Pignataro¹, Michele Protti², Laura Mercolini², Vito Porcelli¹, Giorgia Babini², Isabella Pisano¹, Julia Hentschel³, Giacomo Volpe⁴, Luigi Palmieri¹, Douglas C Wallace⁵, Felix Distelmaier⁶, Stewart Anderson⁵, Barbara Monti², Francesco Massimo Lasorsa¹

¹Department of Biosciences Biotechnologies and Environment, University of Bari, Italy; ²Department of Pharmacy and BioTechnology, University of Bologna, Italy; ³Institute of Human Genetics, University Hospital, Leipzig, Germany; ⁴Hematology and Cell Therapy Unit, IRCCS-Istituto Tumori "Giovanni Paolo II, Bari, Italy; ⁵Children's Hospital of Philadelphia Research Institute, Philadelphia, USA; ⁶University Children's Hospital, Heinrich-Heine-University, Düsseldorf, Germany

Mitochondrial function at the neuromuscular junction in motor neuron disease

Adam Creigh¹, Gráinne Goman¹, Rickie Patani^2,3, Helen Devine¹

¹Wellcome Centre for Mitochondrial Research, Newcastle University, United Kingdom; ²Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, Queen Square, London, UK; ³The Francis Crick Institute, London, UK.

A novel WDR45 variant in an encephalopathy mimicking Leigh syndrome with complex I deficiency

Giulia Ferrera^1,2, Eleonora Lamantea³, Andrea Legati³, Celeste Panteghini³, Manuela Spagnolo³, Barbara Maria Garavaglia³, Valeria Sonia Tiranti³, Giovanna Simonetta Zorzi¹, Daniele Ghezzi^3,4, Anna Ardissone¹

¹Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; ²Department of Health Sciences,University of Milan, Milan, Italy; ³Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ⁴Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy

Characterisation of mitochondrial dysfunction in Huntington’s disease patient-derived fibroblasts

Naomi Hartopp¹, Anastasia Thoma¹, Emily Mossman¹, Laura Ellis¹, Rachel Hughes¹, Gauri Bhosale², Anachiara Gandini², Alessandro Pristera², Christopher Doe², Scott Allen¹, Laura Ferraiuolo¹, Pamela Shaw¹, Oliver Bandmann¹, Heather Mortiboys¹

¹University of Sheffield, Sheffield Institute for Translational Neuroscience, United Kingdom; ²Nanna Therapeutics, Cambridge, UK

Aberration of mitochondrial ultrastructure in the skeletal muscle in patients with Parkinson’s disease

Laura Kytövuori^1,2, Ilkka Miinalainen³, Maria Gardberg⁴, Mikko Kärppä^1,2, Hannu Tuominen⁵, Juhana Leppilahti⁶, Kari Majamaa^1,2

¹Neurocenter, Oulu University Hospital, Oulu, Finland; ²Research Unit of Clinical Medicine, Medical Research Center, University of Oulu and Oulu University Hospital, Oulu Finland; ³Electron microscopy, Biocenter Oulu, University of Oulu, Oulu, Finland; ⁴Pathology, Turku University Hospital and University of Turku, Turku, Finland; ⁵Pathology, Oulu University Hospital, Oulu, Finland; ⁶Division of Orthopaedic and Trauma Surgery, Department of Surgery, Medical Research Center, University of Oulu and Oulu University Hospital, Oulu, Finland

New insights into the pathogenicity of the MT-ATP6: m.9176T>C mutation by a patient cohort and transmitochondrial cybrids combined approach

Pablo Serrano-Lorenzo^1,5, Rocío Garrido-Moraga¹, Alberto Blázquez¹, Óscar García-Campos², Miguel A. Fernández-Moreno^3,5, Esther Gallardo^4,5, María Moran^1,5, Cristina Ugalde^1,5, Joaquín Arenas^1,5, Miguel A. Martín^1,5

¹Mitochondrial Diseases Laboratory, Research Institute, Universitary Hospital 12 de Octubre (Imas12), 28041 Madrid, Spain.; ²Department of Pediatric Neurology, Hospital General Universitario de Toledo, Toledo, Spain.; ³Biochemistry Department, Biomedical Research Institute 'Alberto Sols', CSIC, Faculty of Medicine, Autonomous University of Madrid, and Instituto de Investigación Sanitaria Hospital 12 de Octubre (Imas12), 28041 Madrid, Spain.; ⁴iPS Cells Translational Research Group, Research Institute, Universitary Hospital 12 de Octubre (Imas12), 28041 Madrid, Spain.; ⁵Centre for Biomedical Network Research on Rare Diseases (CIBERER), Spain.

Gamma Peptide Nucleic Acids as a Mechanism for Targeting the Mitochondrial Genome

Lily C. Farmerie^1,2, Kevin M. Redding², Colin T. Martin³, Taewon Jeon⁴, Harini Nagaraj⁴, Vince M. Rotello⁴, Bruce A. Armitage³, Brett A. Kaufman²

¹Department of Bioengineering, University of Pittsburgh, Pittsburgh, Pennsylvania, USA; ²Department of Medicine, Vascular Medicine Institute, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA; ³Department of Chemistry and Center for Nucleic Acids Science and Technology, Carnegie Mellon University, Pittsburgh, Pennsylvania, USA; ⁴Department of Chemistry, University of Massachusetts Amherst, Amherst, Massachusetts, USA

Physiological variability in mitochondrial rRNA may predispose to metabolic syndrome

Tomas Mracek¹, Petr Pecina¹, Kristýna Čunátová¹, Vilma Kaplanová¹, Guillermo Puertas¹, Jan Šilhavý², Marek Vrbacký¹, Kateřina Tauchmannová¹, Tomáš Čajka³, Michal Pravenec², Josef Houštěk¹, Alena Pecinová¹

¹Laboratory of Bioenergetics, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic; ²Laboratory of Genetics of Model Diseases, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic; ³Laboratory of Translational Metabolism, Institute of Physiology of the Czech Academy of Sciences, Prague, Czech Republic

The European landscape of mitogenomes from LHON patients carrying the m.14484T>C/MT-ND6 pathogenic variant

Leonardo Caporali¹⁶, Anna Olivieri², Francesco Petrizzelli³, Flavia Palombo⁴, Claudio Fiorini⁴, Bernd Wissinger⁵, Patrizia Amati-Bonneau⁶, Julio Montoya⁷, Costanza Lamperti⁸, Thomas Klopstock⁹, Alfredo A Sadun¹⁰, Antonio Federico¹¹, Gavin Hudson¹², Patrick Yu-Wai-Man^13,14, Patrick F Chinnery¹³, René De Coo¹⁵, Tommaso Biagini³, Tommaso Mazza³, Alessandro Achilli², Antonio Torroni², Chiara La Morgia^1,4, Valerio Carelli^1,4

¹University of Bologna, Italy; ²University of Pavia, Pavia, Italy; ³Laboratory of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, Rome, Italy; ⁴IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy; ⁵University of Tuebingen, Tuebingen, Germany; ⁶Université LUNAM, Angers, France; ⁷Universidad de Zaragoza, Zaragoza, Spain; ⁸National Neurological Institute 'C. Besta', Milano, Italy; ⁹Ludwig-Maximilians-Universität München, Munich, Germany; ¹⁰UCLA, Los Angeles, California, USA; ¹¹University of Siena, Siena, Italy; ¹²University of Newcastle, Newcastle upon Tyne, UK; ¹³University of Cambridge, Cambridge, UK; ¹⁴Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, UK; ¹⁵Erasmus Medical Centre, Rotterdam, The Netherlands; ¹⁶PhD, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna

Mitochondrial DNA contribution to Parkinsonism: from mtDNA maintenance defects to primary mtDNA pathogenic variants

Raffaella Minardi¹, Flavia Palombo¹, Leonardo Caporali², Claudio Fiorini¹, Maria Pia Giannoccaro^1,2, Alessia Fiornetino¹, Maria Lucia Valentino^1,2, Rocco Liguori^1,2, Valerio Carelli^1,2, Giovanni Rizzo¹, Chiara La Morgia^1,2

¹IRCCS Istituto delle Scienze Neurologiche, Italy; ²Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy

Combined fiber atrophy and impaired muscle regeneration capacity driven by mitochondrial DNA alterations underlie the development of sarcopenia

Sammy Kimoloï¹, Ayesha Sen², Stefan Guenther³, Thomas Braun³, Tobias Brügmann^4,5, Philipp Sasse⁵, Rudolf J. Wiesner^2,6,7, David Pla-Martin^2,6, Olivier R. Baris^2,8

¹Department of Medical Laboratory Sciences, Masinde Muliro University of Science and Technology - Kakamega, Kenya; ²Institute of Vegetative Physiology, University of Cologne - Cologne, Germany; ³Max Planck Institute for Heart and Lung Research - Bad Nauheim, Germany; ⁴Institute for Cardiovascular Physiology, University Medical Center - Göttingen, Germany; ⁵Institute of Physiology I, Medical Faculty, University of Bonn - Bonn, Germany; ⁶Center for Molecular Medicine Cologne - Cologne, Germany; ⁷Cologne Excellence Cluster on Cellular Stress Responses in Aging-associated Diseases (CECAD) - Cologne, Germany; ⁸University of Angers, UMR 6015 CNRS / 1083 INSERM, Mitovasc - Angers, France

Mitochondrial morphology and function in mitochondrial disease

Julie Faitg¹, Tracey Davey¹, Doug Turnbull¹, Amy Elizabeth Vincent¹, Tiago Gomes^2,3

¹Newcastle University, United Kingdom; ²Welcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; ³NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne, United Kingdom

MtDNA sequence and copy number analysis of buffy coat DNA of primary open-angle glaucoma patients

Antoni Vallbona-Garcia^1,2,3, Patrick J. Lindsey², Alphons P.M. Stassen⁴, Rick Kamps², Florence H.J. van Tienen^2,3, Nhan Nguyen², Ilse H.J. Hamers², Rianne Hardij², Marike W. van Gisbergen⁵, Irenaeus F.M. de Coo², Carroll A.B. Webers¹, Theo G.M.F. Gorgels^1,3, Bert J.M. Smeets^2,3

¹University Eye Clinic Maastricht, Maastricht University Medical Center+, Maastricht, The Netherlands; ²Department of Toxicogenomics, Maastricht University, Maastricht, The Netherlands; ³School for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands; ⁴Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands; ⁵Department of Dermatology, GROW-school for oncology and reproduction, Maastricht University Medical Center, Maastricht, The Netherlands

Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease

Johanna Elander¹, Elizabeth M McCormick², Maria Värendh¹, Karin Stenfeldt^1,3, Rebecca D Ganetzky^2,4, Amy Goldstein^2,4, Zarazuela Zolkipli-Cunningham^2,4, Laura E MacMullen², Rui Xiao⁵, Marni J Falk^2,4, Johannes K Ehinger^1,6

¹Otorhinolaryngology, Head and Neck Surgery, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, Sweden; ²Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, USA; ³Logopedics, Phoniatrics and Audiology, Department of Clinical Sciences Lund, Lund University, Sweden; ⁴Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, USA; ⁵Division of Biostatistics, Department of Pediatrics, Children's Hospital of Philadelphia, USA; ⁶Mitochondrial Medicine, Department of Clinical Sciences Lund, Lund University, Sweden

What can we learn from detrimental mitogenome mutations in cattle?

Ino Curik¹, Vladimir Brajkovic¹, Tanja Svara², Mojca Simčič³, Minja Zorc³, Karmen Branovic-Cakanic⁴, Andreja Jungić⁴, Betka Logar⁵, Peter Dovc³, Vlatka Cubric-Curik¹, Dinko Novosel^1,4

¹University of Zagreb - Faculty of Agriculture, 10000 Zagreb, Croatia; ²University of Ljubljana - Veterinary Faculty, 1000 Ljubljana, Slovenia; ³University of Ljubljana - Biotechnical Faculty, 1000 Ljubljana, Slovenia; ⁴Croatian Veterinary Institute, 10000 Zagreb, Croatia; ⁵Agricultural Institute of Slovenia, 1000 Ljubljana, Slovenia

Multiple mitochondrial DNA deletions in patients with myopathy

Jing Wang^1,2, Ada Chan¹, James Paterson¹, Zarazuela Zolkipli-Cunningham^1,2, Amy Goldstein^1,2, Elizabeth McCormick¹, Colleen Muraresku¹, Matthew Dulik^1,2, Douglas Wallace^1,2, Marni Falk^1,2

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

A rare variant m.4135T>C in the MT-ND1 gene leads to LHON and altered OXPHOS supercomplexes

Hana Stufkova¹, Tereza Rakosnikova¹, Silvie Kelifova¹, Katerina Lokvencova¹, Petra Liskova², Bohdan Kousal², Vaclav Martinek³, Tomas Honzik¹, Hana Hansikova¹, Marketa Tesarova¹

¹Department of Pediatrics and Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic; ²Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic; ³Department of Biochemistry, Faculty of Science, Charles University, Prague, Czech Republic.

Mitophagy is stalled in cultured fibroblasts harbouring Parkin mutations

Xiao Liang¹, Nynke van Polanen¹, Derek Narendra², Nicholas Ktistakis³, Jo Poulton¹

¹Department of Women’s and Reproductive Health, University of Oxford, Oxford, UK.; ²Inherited Movement Disorders Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, USA.; ³Signalling Programme. The Babraham Institute, Cambridge, UK.

Elucidating the role of ATF3 in the neuropathology of a mouse model of Leigh Syndrome

Marcos Blanco¹, Patricia Prada-Dacasa¹, Adán Domínguez-Martínez¹, Alex Gella¹, Elisenda Sanz^1,2, Albert Quintana^1,2

¹Institut de Neurociències, Universitat Autònoma de Barcelona. Bellaterra (Barcelona) 08193. Spain; ²Department of Cell Biology, Physiology and Immunology, Universitat Autònoma de Barcelona. Bellaterra (Barcelona) 08193. Spain

CHCHD10 and SLP2 control the stability of the PHB complex : a key factor for motor neuron viability

Emmanuelle C Genin¹, Sylvie Bannwarth¹, Baptiste Ropert¹, Françoise Lespinasse¹, Alessandra Mauri-Crouzet¹, Gaelle Augé¹, Konstantina Fragaki¹, Charlotte Cochaud¹, Erminia Donnarumma², Sandra Lacas-Gervais³, Luc Dupuis⁴, Timothy Wai², Véronique Paquis-Flucklinger¹

¹Université Côte d’Azur, Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, Nice (France); ²Mitochondrial Biology Group, Institut Pasteur, CNRS UMR 3691, Paris (France); ³Université Côte d’Azur, Centre Commun de Microscopie Appliquée, Nice (France); ⁴Mécanismes Centraux et Périphériques de la Neurodégénérescence, Inserm U1118, UMR S1118, CRBS, Université de Strasbourg, Strasbourg (France)

Mitochondrial dysfunction in peripheral blood mononuclear cells in different stages of Huntington´s disease

Marie Vanisova¹, Hana Stufkova¹, Michael Pasak¹, Jan Roth², Irena Rysankova², Marte Eikenes³, Lars Eide³, Jiri Klempir², Hana Hansikova¹

¹Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic; ²Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic; ³Department of Medical Biochemistry, University of Oslo and Oslo University Hospital, Oslo, Norway.

The mitochondrial DNA depletion syndrome protein FBXL4 mediates the degradation of the mitophagy receptors BNIP3 and NIX to suppress mitophagy

Keri-Lyn Kozul¹, Giang Thanh Nguyen-Dien^1,2, Yi Cui¹, Prajakta Gosavi Kulkarni¹, Michele Pagano^3,4, Brett M. Collins⁵, Robert W. Taylor^6,7, Mathew J.K. Jones⁸, Julia K. Pagan^1,5,8

¹School of Biomedical Sciences, Faculty of Medicine, University of Queensland, Brisbane, Australia; ²Department of Biotechnology, School of Biotechnology, Viet Nam National University-International University, Ho Chi Minh City, Vietnam; ³Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, USA; ⁴Perlmutter Cancer Center, New York University Grossman School of Medicine, New York, USA; ⁵The University of Queensland, Institute for Molecular Bioscience, Brisbane, Australia; ⁶Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; ⁷NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; ⁸The University of Queensland Diamantina Institute, Faculty of Medicine, The University of Queensland, Brisbane, Australia

Mitochondria released from astrocytes contribute to the striatal neuronal vulnerability in Huntington’s disease

Laura Lopez-Molina^1,2,3,4, Alba Pereda-Velarde^1,2,3,4, Silvia Ginés^1,2,3,4

¹Departament de Biomedicina, Facultat de Medicina. Universitat de Barcelona, Spain; ²Institut de Neurociències. Universitat de Barcelona, Spain; ³Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; ⁴Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.

Harlequin mice exhibit cognitive impairment, severe loss of Purkinje cells and a compromised bioenergetic status due to the absence of Apoptosis Inducing Factor

Hélène Cwerman-Thibault¹, Vassilissa Malko-Baverel¹, Gwendoline Le Guilloux¹, Isabel Torres-Cuevas^1,2,3, Iván Millán^1,2,4, Bruno Saubaméa⁵, Edward Ratcliffe¹, Djmila Mouri¹, Virginie Mignon^5,6, Odile Boespflug-Tanguy¹, Pierre Gressens¹, Marisol Corral-Debrinski¹

¹Université Paris Cité, NeuroDiderot, Inserm, F-75019 Paris, France; ²Neonatal Research Group, Instituto de Investigación Sanitaria La Fe (IISLAFE), Valencia, Spain; ³Department of Physiology, University of Valencia, Vicent Andrés Estellés s/n, 46100 12 Burjassot, Spain; ⁴Laboratory of Comparative Neurobiology, Cavanilles Institute of Biodiversity and Evolutionary Biology, University of Valencia, Valencia, Spain; ⁵Université de Paris, UMR-S 1144 Inserm, 75006 Paris, France; ⁶Université Paris Cité, Platform of Cellular and Molecular Imaging, US25 Inserm, UAR3612 CNRS, 75006 Paris, France

Mitochondrial dysfunction and calcium dysregulation in COQ8A-Ataxia Purkinje neurons are rescued by CoQ10 treatment

Ioannis Manolaras¹, Andrea Del Bondio², Olivier Griso¹, Bianca Habermann³, Hélène Puccio^1,2

¹Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS UMR7104, Université de Strasbourg, France; ²Institut NeuroMyoGene, UMR5310, INSERM U1217, Université Claude Bernard Lyon I Faculté de médecine, Lyon, France; ³Institut de Biologie du Développement de Marseille (IBDM), CNRS, UMR7288, Aix-Marseille Université, Marseille, France.

Macromolecular crowding: A novel player in mitochondrial physiology and disease

Elianne P Bulthuis¹, Cindy EJ Dieteren¹, Jesper Bergmans¹, Job Berkhout¹, Jori A Wagenaars¹, Els MA van de Westerlo¹, Emina Podhumljak¹, Mark A Hink², Laura FB Hesp¹, Hannah S Rosa³, Afshan N Malik³, Mariska Kea-te Lindert¹, Peter HGM Willems¹, Han JGE Gardeniers⁴, Wouter K den Otter⁴, Merel JW Adjobo-Hermans¹, Werner JH Koopman^1,5

¹Radboud University Medical Center, The Netherlands; ²University of Amsterdam, The Netherlands; ³King's College, London, UK; ⁴University of Twente, The Netherlands; ⁵Wageningen University, The Netherlands

Preserved motor function and striatal innervation despite severe degeneration of dopamine neurons upon mitochondrial dysfunction

Thomas Paß¹, Roy Chowdury², Julien Prudent², Yu Nie³, Patrick Chinnery³, Markus Aswendt⁴, Heike Endepols⁵, Bernd Neumaier⁵, Trine Riemer⁶, Bent Brachvogel⁶, Rudi Wiesner⁷

¹Center for Physiology and Pathophysiology, Faculty of Medicine and University Hospital Cologne, Germany; ²Medical Research Council Mitochondrial Biology Unit, University of Cambridge, UK; ³Medical Research Council Mitochondrial Biology Unit and Department of Clinical Neurosciences, Cambridge Biomedical Campus, University of Cambridge, UK; ⁴Department of Neurology, Faculty of Medicine and University Hospital Cologne, Germany; ⁵Institute of Radiochemistry and Experiment Molecular Imaging, Faculty of Medicine and University Hospital of Cologne, Germany; ⁶Department of Pediatrics and Adolescent Medicine, Experimental Neonatology, Faculty of Medicine and University Hospital Cologne, Germany; ⁷Center for Physiology and Pathophysiology, Faculty of Medicine and University Hospital Cologne; Cologne Excellence Cluster on Cellular Stress Responses in Aging-associated Diseases (CECAD) and Center for Molecular Medicine Cologne, University of Cologne, Germany

The mitochondrial DNA depletion syndrome protein FBXL4 mediates the degradation of the mitophagy receptors BNIP3 and NIX to suppress mitophagy

Keri-Lyn Kozul¹, Giang Thanh Nguyen-Dien^1,2, Yi Cui¹, Prajakta Gosavi Kulkarni¹, Michele Pagano^3,4, Brett M. Collins⁵, Robert Taylor^6,7, Mathew J.K. Jones⁸, Julia K. Pagan^1,5,8

Parsing universal heteroplasmy in a large maternal lineage carrying the common LHON variant m.11778G>A/MT-ND4

Danara Ormanbekova¹, Claudio Fiorini¹, Leonardo Caporali², Alberto Pasti¹, Chiara Giannuzzi², Francesco Musacchia³, Diego Vozzi³, Milton N Moraes-Filho⁴, Solange R Salomao⁵, Adriana Berezovsky⁵, Alfredo A Sadun⁶, Stefano Gustincich³, Patrick F Chinnery⁷, Valerio Carelli^1,2

¹Azienda USL di Bologna - IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy; ²Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; ³Istituto Italiano di Tecnologia – IIT, Genova, Italy; ⁴Instituto de Olhos de Colatina, Colatina, Espírito Santo, Brazil; ⁵Departamento de Oftalmologia e Ciências Visuais, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, São Paulo, Brazil; ⁶Doheny Eye Institute, Los Angeles, CA, USA; Department of Ophthalmology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA; ⁷Medical Research Council Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK

PNPLA3, MBOAT7 and TM6SF2 modify mitochondrial dynamics in NAFLD patients: dissecting the role of cell-free circulating mtDNA and copy number

Miriam Longo¹, Erika Paolini^1,2, Marica Meroni¹, Michela Ripolone¹, Laura Napoli¹, Giada Tria¹, Marco Maggioni¹, Maurizio Maggio¹, Anna Ludovica Fracanzani^1,3, Paola Dongiovanni¹

¹Fondazione IRCCS Cà Granda Ospedale Policlinico, Italy; ²Department of Pharmacological and Biomolecular Sciences, Università degli Studi di Milano, Italy; ³Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Italy

The overexpression of TM6SF2 and/or MBOAT7 wild-type genes restores the mitochondrial lifecycle and activity in an in vitro NAFLD model

Erika Paolini^1,2, Miriam Longo¹, Marica Meroni¹, Giada Tria¹, Massimiliano Ruscica², Anna Ludovica Fracanzani^1,3, Paola Dongiovanni¹

Conference Agenda