The SNCA-Rep1 Polymorphic Locus: Association with the Risk of Parkinson's Disease and SNCA Gene Methylation.

Autor:	Iakovenko EV; Research Center on Neurology, Moscow, 125367 Russia., Abramycheva NY; Research Center on Neurology, Moscow, 125367 Russia., Fedotova EY; Research Center on Neurology, Moscow, 125367 Russia., Illarioshkin SN; Research Center on Neurology, Moscow, 125367 Russia.
Jazyk:	angličtina
Zdroj:	Acta naturae [Acta Naturae] 2020 Apr-Jun; Vol. 12 (2), pp. 105-110.
DOI:	10.32607/actanaturae.10956
Abstrakt:	Neurodegeneration in Parkinson's disease is characterized by the accumulation of alpha-synuclein, a protein encoded by the SNCA gene, in neurons. In addition to mutations, many polymorphisms have been identified in this gene, and one of these is a dinucleotide microsatellite: SNCA -Rep1 . The mechanisms by which specific configurations of SNCA- Rep1 may contribute to the development of this disease have yet to be clarified. In our study, a relationship between long SNCA- Rep1 alleles and Parkinson's was confirmed in the Russian population. Long allelic variants of SNCA -Rep1 were shown to be associated with the hypomethylation of the CpG-sites in intron 1 of the SNCA gene. Long variants of SNCA -Rep1 are supposed to exert their effect through the hypomethylation of a transcriptionally significant region of this gene. Hypomethylation is usually associated with increased expression, which, in turn, contributes to alpha-synuclein accumulation in neuronal cytoplasm, with the latter being the main molecular marker of Parkinson's disease. Further studies are needed to establish a relationship between our finding and SNCA gene expression. (Copyright ® 2020 National Research University Higher School of Economics.)
Databáze:	MEDLINE
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