Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function

• Published in: Disease models & mechanisms Vol. 11; no. 12
• Main Authors: Findlay, Amy S, Carter, Roderick N, Starbuck, Becky, McKie, Lisa, Nováková, Klára, Budd, Peter S, Keighren, Margaret A, Marsh, Joseph A, Cross, Sally H, Simon, Michelle M, Potter, Paul K, Morton, Nicholas M, Jackson, Ian J
• Format: Journal Article
• Language: English
• Published: England The Company of Biologists Ltd 01.12.2018; The Company of Biologists
• Subjects: Age; Animals; Dehydrogenases; Disease; Fibroblasts - metabolism; Genes; Genotype; Genotype & phenotype; Isocitrate Dehydrogenase - genetics; Isocitrate Dehydrogenase - metabolism; Krebs cycle; Loss of Function Mutation - genetics; Mice; Mitochondria; Mitochondria - pathology; Mouse model; Mutation; Mutation - genetics; Mutation, Missense - genetics; Patients; Phenotype; Photoreceptor Cells, Vertebrate - metabolism; Photoreceptor Cells, Vertebrate - pathology; Proteins; Retina; Retina - pathology; Retina - physiopathology; Retinal Degeneration - genetics; Retinal Degeneration - physiopathology; Retinitis pigmentosa; Tumors; Retinitis pigmentosa; Mouse model; Krebs cycle

Isocitrate dehydrogenase (IDH) is an enzyme required for the production of α-ketoglutarate from isocitrate. IDH3 generates the NADH used in the mitochondria for ATP production, and is a tetramer made up of two α, one β and one γ subunit. Loss-of-function and missense mutations in both and have previ...