NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.

ABSTRACT: complex I deficiency, the most common respiratory chain defect, is genetically heterogeneous: mutations in 8 nuclear and 7 mitochondrial DNA genes encoding complex I subunits have been described. However, these genes account for disease in only a minority of complex I-deficient patients. We investigated whether there may be an unknown common gene by performing functional complementation analysis of cell lines from 10 unrelated patients. Two of the patients were found to have mitochondrial DNA mutations. The other 8 represented 7 different (nuclear) complementation groups, all but 1 of which showed abnormalities of complex I assembly. It is thus unlikely that any one unknown gene accounts for a large proportion of complex I cases. The 2 patients sharing a nuclear complementation group had a

SUBMITTER: Kirby DM 

PROVIDER: S-EPMC516258 | biostudies-literature | 2004 Sep

REPOSITORIES: biostudies-literature