Disease relevance of NDUFV2

• Genotype in the 24-kDa subunit gene (NDUFV2) of mitochondrial complex I and susceptibility to Parkinson disease [1].

Psychiatry related information on NDUFV2

• Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder in Japanese and the National Institute of Mental Health pedigrees [2].

High impact information on NDUFV2

• More importantly, Ca(2+)-induced inhibition of Complex I of the electron transport chain was blocked by calpain inhibitors and two Complex I proteins were identified as targets of mitochondrial calpain 10, NDUFV2, and ND6 [3].
• Two novel substitutions were found: a synonymous replacement 201A>T in NDUFV2 and a non-synonymous base exchange 52C>T in NDUFS8 [4].
• Refined mapping of both NDUFV2 genes by FISH resulted in an assignment of the NDUFV2 gene to 18p11.2-p11.31 and of the NDUFV2P1 gene to 19q13.3-qter [5].
• The NDUFV2 gene spans approximately 20 kb and contains 8 exons [5].
• A small deletion in the second intron of human NDUFV2 (IVS2+5_+8delGTAA) has been shown to cause hypertrophic cardiomyopathy and encephalomyopathy [Bénit, P., Beugnot, R., Chretien, D., Giurgea, I., de Lonlay-Debeney, P., Issartel, J.P., Kerscher, S., Rustin, P., Rötig, A. & Munnich, A. (2003) Human Mutat.21, 582-586] [6].

Chemical compound and disease context of NDUFV2

• Because mitochondrial dysfunction has been suggested in bipolar disorder, NDUFV2 at 18p11, encoding a subunit of the complex I, reduced nicotinamide adenine dinucleotide (NADH)ubiquinone oxidoreductase, is a candidate gene for this disorder [2].

Biological context of NDUFV2

• Molecular cloning and characterization of the active human mitochondrial NADH:ubiquinone oxidoreductase 24-kDa gene (NDUFV2) and its pseudogene [5].
• CONCLUSION: Together these findings indicate that the polymorphisms in the promoter region of NDUFV2 are a genetic risk factor for bipolar disorder by affecting promoter activity [2].
• We set out to identify a polymorphism in the 24-kDa subunit gene (NDUFV2) in patients with PD and determine whether genetic polymorphism of this gene is associated with a higher risk of PD [1].
• We also found that the haplotype frequencies of the four polymorphisms in the upstream region of NDUFV2 were significantly different between bipolar disorders and controls (P = 0.0001) [7].
• We performed the real-time quantitative reverse transcription polymerase chain reaction (RT-PCR) for NDUFV2 mRNA expression in lymphoblastoid cell lines derived from patients with bipolar disorder and healthy controls [7].

Associations of NDUFV2 with chemical compounds

• Since mitochondrial dysfunction has been suggested in both of these disorders, NDUFV2 at 18p11, encoding a subunit of the complex I, NADH ubiquinone oxidoreductase, is a candidate gene for these diseases [8].

Physical interactions of NDUFV2

• Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy [9].

Other interactions of NDUFV2

• We evaluated four complex I-relevant gene polymorphisms alternatively reported to associate and not associate with PD (tRNA(Gln) T4336C, ND1 T4216C, ND2 G5460A, and the NDUFV2 exon 2 C182T transition) [10].

References