2:17 PM - 2:37 PM

[3PS9-5] SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome

〇Alexandre Janer^1,2, Julien Prudent^2,3, Vincent Paupe^1,2, Somayyeh Fahiminiya¹, Jacek Majewski¹, Nicolas Sgarioto², Christine Des Rosiers^4,5, Anick Forest^4,5, Zhen-Yuan Lin⁶, Anne-Claude Gingras^6,7, Grant Mitchell⁸, Heidi McBride^2,3, Eric Shoubridge^1,2 (1.Department of Human Genetics, McGill University, Canada, 2.Montreal Neurological Institute, McGill University, Canada, 3.Department of Neurology and Neurosurgery, McGill University, Canada, 4.Department of Nutrition, Universite de Montreal, Canada, 5.Research Centre, Montreal Heart Institute, Canada, 6.Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Canada, 7.Department of Molecular Genetics, University of Toronto, Canada, 8.Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Universite de Montreal, Canada)

SLC25A46, mitochondrial architecture, phospholipid transfert, cristea maintenance