Journal article
Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease
C Sugiana, DJ Pagliarini, M McKenzie, DM Kirby, R Salemi, KK Abu-Amero, HHM Dahl, WM Hutchison, KA Vascotto, SM Smith, RF Newbold, J Christodoulou, S Calvo, VK Mootha, MT Ryan, DR Thorburn
American Journal of Human Genetics | CELL PRESS | Published : 2008
Abstract
Complex I (NADH:ubiquinone oxidoreductase) is the first and largest multimeric complex of the mitochondrial respiratory chain. Human complex I comprises seven subunits encoded by mitochondrial DNA and 38 nuclear-encoded subunits that are assembled together in a process that is only partially understood. To date, mutations causing complex I deficiency have been described in all 14 core subunits, five supernumerary subunits, and four assembly factors. We describe complex I deficiency caused by mutation of the putative complex I assembly factor C20orf7. A candidate region for a lethal neonatal form of complex I deficiency was identified by homozygosity mapping of an Egyptian family with one aff..
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Awarded by National Institute of General Medical Sciences
Funding Acknowledgements
We thank Andrew Cuthbert for advice on monochromosomal transfer. This work was supported by grants (D.R.T. and M.T.R.), postdoctoral fellowships (M.McK. and D.M.K.), and a principal research fellowship (D.R.T.) from the Australian National Health and Medical Research Council and a grant from the Australian Research Council (M.T.R.). C.S. was supported by a University of Melbourne postgraduate research scholarship. Grant funding was also received from the Muscular Dystrophy Association (D.R.T.), the Ramaciotti Foundation (M.McK.), and the National Institutes of Health (GM077465) (V.K.M.).