Conference Agenda

The role of mtDNA variation in common and rare diseases

Patrick F. Chinnery

Cambridge-UK, United Kingdom

How mtDNA can talk with the complex landscape of nuclear encoded OXPHOS information?

José Antonio Enriquez

Spanish National Center for Cardiovascular Research (CNIC)

Understanding the pathophysiological mechanisms of mitochondrial diseases with MITOMICS through an integrated multi-OMICS approach of Mitomatcher, the French mitochondrial disease database

Sylvie Bannwarth¹, Alexandrina Bodrug², Céline Bris², MitoDiag Network³, Stéphane Tirard⁴, Silvia Bottini⁵, Marie Deprez⁷, Magalie Barth², Patrizia Bonneau², Pascal Reynier², Dominique Bonneau², Justine Labory⁵, Cécile Rouzier¹, Annabelle Chaussenot¹, Samira Ait-El-Mkadem-Saadi¹, Shahram Attarian⁶, Marco Lorenzi⁷, Véronique Paquis-Flucklinger¹, Anthony Brooks⁸, Vincent Procaccio²

¹Université Côte d’Azur, INSERM U1081, CNRS UMR7284, IRCAN, CHU de Nice, Nice, France; ²Département de Génétique, UMR CNRS 6015 INSERM 1083, CHU et Université d’Angers, Angers, France; ³Réseau français des laboratoires de diagnostic pour les maladies mitochondriales (Bordeaux, Caen, Grenoble, Lille, Lyon, Le Kremlin-Bicêtre, Pitié Salpêtrière, Necker Enfants Malades, Reims), Centres de référence pour les maladies mitochondriales (CALISSON, CARAMMEL), France; ⁴Université de Nantes, Nantes, France; ⁵Université Côte d’Azur, MDLab, Nice, France; ⁶Filière FILNEMUS, CHU La Timone, Marseille, France; ⁷INRIA, Equipe EPIONE, Nice, France; ⁸University of Leicester, Dept.Genetics, UK

Generating a complete human panmitogenome

Giulio Formenti¹, Alessandro Achilli², Hansi Weissensteiner³, Anna Olivieri², Andrea Guarracino⁴, Walther Parson^5,8, Nicola Rambaldi Migliore², Martin Bodner³, Valerio Carelli⁶, Leonardo Caporali⁶, Claudio Fiorini⁷, Danara Ormanbekova⁷, Erik Garrison⁴, Nicole Huber³

¹The Rockefeller University, United States of America; ²Department of Biology and Biotechnology “L. Spallanzani”, University of Pavia, 27100 Pavia, Italy; ³Medical University of Innsbruck, 6020 Innsbruck, Austria; ⁴Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN 38163, USA; ⁵Medical University of Innsbruck, 6020 Innsbruck, Austria; ⁶Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, 40139 Bologna, Italy; ⁷IRCCS Institute of Neurological Sciences of Bologna; ⁸Forensic Science Program, The Pennsylvania State University, University Park, PA, USA

Negative selection of mitochondrial DNA mutations in the blood

Imogen Grace Franklin^1,5, Paul Milne^2,5, Jordan Childs¹, Isabel Barrow^1,3, Róisín M Boggan¹, Andrew M Schaefer^1,3, Catherine Feeney^1,3, Rhys H Thomas^1,3, Gráinne S Gorman^1,3, Conor Lawless¹, Yi Shiau Ng^1,3, Matthew Collin^2,4, Oliver M Russell^1,4, Sarah J Pickett^1,4

¹Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle-upon-Tyne; ²The Human Dendritic Cell Lab, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne; ³NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne; ⁴Equal Contributions; ⁵Equal Contributions

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