Роль полиморфны х вариантов гена СОМТ в патогенезе болезни паркинсона и леводопа-индуцированных дискинезий

Abstract

Parkinson's disease (PD) is one of the most serious and widespread neurodegenerative diseases. Genetic susceptibility plays a significant role in the development of PD. The aim of our study was to investigate associations between single nucleotide polymorphisms (SNPs) of COMT gene coding dopamine catabolism enzyme and the Parkinson's disease and levodopa-induced dyskinesias. In this study seven SNPs (rs4680, rs6269, rs4633, rs4818, rs769224, rs165774, rs174696) within COMT have been genotyped in 232 patients with PD and 127 healthy individuals in Russian population of Siberia region. A significant association of the rs165774 polymorphism with PD and significant association of the rs4680 with levodopa-induced dyskinesia have been found. Our study confirms that the polymorphisms of COMT gene may play an important role in the pathophysiology of Parkinson's disease and levodopa-induced dyskinesias.