Conference Agenda

Improving the diagnosis of mitochondrial disease with public funding for whole genome sequencing

Carolyn M Sue

Neuroscience Research Australia

SLC25A38 is Necessary for Mitochondrial Pyridoxal 5’-Phosphate (PLP) Accumulation

Izabella A. Pena^1,2, Jeffrey S. Shi^1,2, Sarah M. Chang^3,4,5, Samuel Block^3,4, Jason Yang^4,6, Charles H. Adelmann^4,6,7,8, Heather R. Keys⁶, Preston Ge^1,2,5, Isabella Witham^1,2, Grzegorz Sienski⁶, David M. Sabatini⁹, Caroline A. Lewis⁶, Nora Kory¹⁰, Matthew G. Vander Heiden^3,4,11, Myriam Heiman^1,2

¹Picower Institute for Learning and Memory, MIT, Cambridge, MA, USA; ²Department of Brain and Cognitive Sciences, MIT, Cambridge, MA, USA; ³David H. Koch Institute for Integrative Cancer Research, MIT, Cambridge, MA, USA; ⁴Department of Biology, MIT, Cambridge, MA, USA; ⁵Harvard-MIT MD/PhD Program, Boston, MA, USA; ⁶Whitehead Institute for Biomedical Research, Cambridge, MA, USA; ⁷Cancer Research, Massachusetts General Hospital, Boston MA, USA; ⁸Cutaneous Biology Research Center, Massachusetts General Hospital Department of Dermatology, Harvard Medical School, Boston, MA; ⁹Unafilliated; ¹⁰Harvard T.H. Chan School of Public Health, Boston, MA, USA; ¹¹Dana-Farber Cancer Institute, Boston, MA, USA

The transcriptional effects of thyroid hormone T3 on mitochondrial metabolism during neurodevelopment

Chiara Santanatoglia¹, Francesca Ciarpella¹, Giulia Pedrotti¹, Benedetta Lucidi¹, Eros Rossi¹, Elisa De Tomi², Raluca Georgiana Zamfir¹, Giovanni Malerba², Giorgio Malpeli³, Ilaria Decimo¹, Emanuela Bottani¹

¹Section of Pharmacology, Department of Diagnostics and Public Health, University of Verona, Verona, Italy; ²Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy; ³Department of Surgery, Dentistry, Paediatrics and Gynaecology, University of Verona, Verona, Italy

Transplanting ipsc-derived mitochondria: a promising approach for treating mitochondrial optic neuropathies

Jasmine Harley, Jeremy Pang, Queenie Tan, Alexander Han, Winanto Ng, Cheryl Lee, Zheng Shan Chong, Cheryl Lee, Su Xinyi, Boon Seng Soh, Shi-Yan Ng

Institute of Molecular and Cell Biology, A*STAR Research Entities, Singapore 138673, Singapore

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

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

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

Host-microbiome co-adaptation to severe nutritional challenge

Subhajit Singha¹, Maxim Itkin², Sergey Malitsky², Yoav Soen¹

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

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

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

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

Nuclear genetic control of mtDNA homeostasis revealed from >250,000 human genomes

Rahul Gupta

Broad Institute; Mass Gen Hospital, Harvard Medical School