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

Genomics. 1998 Apr 1;49(1):52-8. doi: 10.1006/geno.1997.5192.


We analyzed the gene encoding the 24-kDa subunit of mitochondrial complex I, which has been implicated in the pathogenesis of Parkinson disease (PD). 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. The subjects comprised 126 patients with PD, and the control group comprised 113 unrelated individuals without neurodegenerative disorders. A novel polymorphism (Ala29Val) in the mitochondrial targeting sequence of NDUFV2 was found in patients with PD. The distribution of the three genotypes was significantly different between the two groups (chi 2 = 7.53, df = 2, P = 0.023). The frequency of homozygotes for the mutation was significantly higher in PD patients (23.8%) than in control subjects (11.5%, Fisher's exact test, P = 0.0099 < 0.01). The risk of developing PD associated with homozygosity for this mutation was calculated as 2.40 (95% CI: 1.18-4.88). NDUFV2 constitutes one genetic risk factor for PD, and the mutation may well be a cause of complex I deficiency in this disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Cattle
  • Disease Susceptibility
  • Genotype
  • Humans
  • Mitochondria
  • Molecular Sequence Data
  • NAD(P)H Dehydrogenase (Quinone) / genetics*
  • Parkinson Disease / enzymology*
  • Parkinson Disease / genetics*
  • Rats
  • Sequence Homology, Amino Acid


  • NAD(P)H Dehydrogenase (Quinone)

Associated data

  • GENBANK/D88542
  • GENBANK/D88543
  • GENBANK/D88544
  • GENBANK/D88545
  • GENBANK/D88546
  • GENBANK/D88547
  • GENBANK/D88548