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

Annals of Neurology
T KobayashiY Mizuno

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.

References

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Citations

Feb 19, 2002·Neurochemistry International·Gary E Gibson, Hui Zhang
Feb 17, 2000·Neurochemistry International·G E GibsonN Y Calingasan
Sep 2, 1999·Neuroscience Letters·F J Jiménez-JiménezC Villanueva
Feb 15, 2000·Annals of the New York Academy of Sciences·K F Sheu, J P Blass
Nov 11, 1999·Current Opinion in Neurology·S D Spacey, N W Wood
Apr 21, 2005·The Journal of Biological Chemistry·Sven W SauerStefan Kölker
Nov 11, 1998·Journal of the American Geriatrics Society·E Gómez-TortosaB T Hyman
Feb 24, 2001·Annals of the New York Academy of Sciences·J P Blass
May 13, 1999·Annals of Neurology·M WangY Mizuno
Aug 26, 2011·Biomedit︠s︡inskai︠a︡ khimii︠a︡·O A Buneeva, A E Medvedev

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