Disease relevance of NDUFS1

• Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene [1].

High impact information on NDUFS1

• Therefore, caspase cleavage of NDUFS1 is required for several mitochondrial changes associated with apoptosis [2].
• Here, we identify NDUFS1, the 75 kDa subunit of respiratory complex I, as a critical caspase substrate in the mitochondria [2].
• Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency [3].
• In 3/36 patients, we identified, for the first time, five point mutations (del222, D252G, M707V, R241W, and R557X) and one large-scale deletion in the NDUFS1 gene [3].
• The pathogenic mechanism of a G44A nonsense mutation in the NDUFS4 gene and a C1564A mutation in the NDUFS1 gene of respiratory chain complex I was investigated in fibroblasts from human patients [4].

Anatomical context of NDUFS1

• Exposure of the NDUFS1 mutant fibroblasts to dibutyryl-cAMP stimulated the residual NADH-ubiquinone oxidoreductase activity, induced disappearance of ROS, and restored the mitochondrial potential [4].

References