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

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.

• Authors: T Kobayashi, H Matsumine, S Matuda, Y Mizuno
• Journal: Annals of neurology (Ann Neurol) Vol. 43 Issue 1 Pg. 120-3 (Jan 1998) ISSN: 0364-5134 [Print] United States
• PMID: 9450778 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Ketoglutarate Dehydrogenase Complex

Topics

• 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