Mitochondrial complex I deficiency of nuclear origin: I. structural genes

H Pagniez-Mammeri, S Loublier, A Legrand… - Molecular genetics and …, 2012 - Elsevier
Complex I (or NADH–ubiquinone oxidoreductase), is by far the largest respiratory chain
complex with 38 subunits nuclearly encoded and 7 subunits encoded by the mitochondrial
genome. Its deficiency is the most frequently encountered in mitochondrial disorders. Here,
we summarize recent data obtained on architecture of complex I, and review the pathogenic
mutations identified to date in nuclear structural complex I genes. The structural NDUFS1,
NDUFS2, NDUFV1, and NDUFS4 genes are mutational hot spot genes for isolated complex …