Disease relevance of NDUFV1

• The lactic acidosis induced by the NDUFV1 mutations could be partially corrected with the vitamins riboflavin and thiamine or with sodium dichloroacetate, an activator of the pyruvate dehydrogenase complex, resulting in significant increases in animal fitness [1].
• Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3'UTR with the 5'UTR of the gamma-interferon inducible protein (IP-30) precursor: is this a link between mitochondrial myopathy and inflammation [2]?
• Early-Onset Ophthalmoplegia in Leigh-Like Syndrome Due to NDUFV1 Mutations [3].

High impact information on NDUFV1

• Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy [4].
• Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency [5].
• Missense mutations in the human NDUFV1 gene, which encodes the 51 kDa active site subunit of the NADH-ubiquinone oxidoreductase or complex I, can lead to severe neurological disorders [1].
• Human cDNA fragments of the 51-kDa protein were generated by polymerase chain reaction and used to localize the gene (NDUFV1) for this subunit to 11q13 by two separate techniques [6].
• The NDUFV1 gene consists of 10 exons [7].

Biological context of NDUFV1

• The genomic organization of the human 51-kDa subunit gene (NDUFV1) on human Chromosome (Chr) 11q13 was determined [7].
• Northern blotting analysis showed that the NDUFV1 gene expression varies widely among tissues and that in testis a unique mRNA species is present [7].
• Complex I deficiency was demonstrated in muscle, and two pathogenic missense mutations were present in the NDUFV1 gene [3].

References