Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.

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 affected child and two affected pregnancies predicted by enzyme-based prenatal diagnosis. The region wa

SUBMITTER: Sugiana C 

PROVIDER: S-EPMC2561934 | biostudies-literature | 2008 Oct

REPOSITORIES: biostudies-literature