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

¹The Children's Hospital of Philadelphia, PA USA; ²Perelman 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

¹Research Group on Neuromuscular and Mitochondrial Diseases, Vall d’Hebron Research Institute, Universitat Autònoma de Barcelona, Spain; ²Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; ³Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; ⁴Institut 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; ⁵Mitochondrial and Neuromuscular Disorders Group, '12 de Octubre’ Hospital Research Institute (imas12), Madrid, Spain; ⁶Pediatric Neurology Department, Badajoz Hospital Complex, Badajoz, Spain; ⁷Pediatric Neurology Department, Donostia University Hospital, San Sebastian, Spain; ⁸Neurology 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; ⁹Centro de Investigación en Red de Enfermedades Neurodegenerativas, CIBERNED (CIBER), Instituto Carlos III, Madrid, Spain; ¹⁰Children Neuromuscular Diseases Unit, Pediatrics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain; ¹¹Department of Neurology, Neuromuscular Diseases Unit, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain; ¹²Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, Barcelona, Spain; ¹³Division of Clinical Microbiology, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden; ¹⁴Department of Clinical Movement Neurosciences, Royal Free Campus, University College of London, Queen Square Institute of Neurology, London, UK; ¹⁵Neuromuscular Unit, Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona, Spain; ¹⁶Neuropediatra, Neurolinkia & Hospital Viamed Santa Ángela De la Cruz, Sevilla, Spain; ¹⁷Neuromuscular 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

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

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

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