Association between the gene encoding the E2 subunit of the alpha-ketoglutarate dehydrogenase complex and Parkinson's disease

Ann Neurol. 1998 Jan;43(1):120-3. doi: 10.1002/ana.410430121.

Abstract

Dihydrolipoamide succinyltransferase (E2, EC 2.3.1.61, chromosome 14q24.2-3) is a specific subunit of human alpha-ketoglutarate dehydrogenase complex (KGDHC). A biallelic intragenic polymorphism was identified in E2 gene of KGDHC. It was a single nucleotide substitution between G (in allele 1) and A (in allele 2) at the position that does not change amino acid code. Using this intragenic polymorphism as a marker, we investigated the association between this gene and Parkinson's disease. Frequencies of the genotypes that carry allele 2 were significantly higher in the Parkinson's disease group than in the control group. The results indicated that a genetic variant of the E2 gene itself or in close proximity to the gene constitutes one of the genetic risk factors for Parkinson's disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Distribution
  • Aged
  • Alleles
  • Female
  • Gene Frequency
  • Genotype
  • Humans
  • Ketoglutarate Dehydrogenase Complex / genetics*
  • Male
  • Middle Aged
  • Parkinson Disease / genetics*
  • Polymorphism, Genetic / genetics
  • Polymorphism, Single-Stranded Conformational

Substances

  • Ketoglutarate Dehydrogenase Complex