Article
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
Journal of inherited metabolic disease - 1 Sept 2022
Ganapathi Mythily, Friocourt Gaelle, Gueguen Naig, Friederich Marisa W, Le Gac Gerald, Okur Volkan, Loaëc Nadège, Ludwig Thomas, Ka Chandran, Tanji Kurenai, Marcorelles Pascale, Theodorou Evangelos, Lignelli-Dipple Angela, Voisset Cécile, Walker Melissa A, Briere Lauren C, Bourhis Amélie, Blondel Marc, LeDuc Charles, Hagen Jacob, Cooper Cathleen, Muraresku Colleen, Ferec Claude, Garenne Armelle, Lelez-Soquet Servane, Rogers Cassandra A, Shen Yufeng, Strode Dana K, Bizargity Peyman, Iglesias Alejandro, Goldstein Amy, High Frances A, Network Undiagnosed Diseases, Sweetser David A, Ganetzky Rebecca, Van Hove Johan L K, Procaccio Vincent, Le Marechal Cedric, Chung Wendy K
Abstract excerpt
Mitochondrial complex V plays an important role in oxidative phosphorylation by catalyzing the generation of ATP. Most complex V subunits are nuclear encoded and not yet associated with recognized Mendelian disorders. Using exome sequencing, we identified a rare homozygous splice variant (c.87+3A>G) in ATP5PO, the complex V subunit which encodes the oligomycin sensitivity conferring protein, in three individuals...
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