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

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 mechanis...

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Autores principales: Iakovenko, E. V., Abramycheva, N. Yu., Fedotova, E. Yu., Illarioshkin, S. N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: A.I. Gordeyev 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7385090/
https://www.ncbi.nlm.nih.gov/pubmed/32742734
http://dx.doi.org/10.32607/actanaturae.10956
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author Iakovenko, E. V.
Abramycheva, N. Yu.
Fedotova, E. Yu.
Illarioshkin, S. N.
author_facet Iakovenko, E. V.
Abramycheva, N. Yu.
Fedotova, E. Yu.
Illarioshkin, S. N.
author_sort Iakovenko, E. V.
collection PubMed
description 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.
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spelling pubmed-73850902020-07-31 The SNCA-Rep1 Polymorphic Locus: Association with the Risk of Parkinson’s Disease and SNCA Gene Methylation Iakovenko, E. V. Abramycheva, N. Yu. Fedotova, E. Yu. Illarioshkin, S. N. Acta Naturae Research Article 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. A.I. Gordeyev 2020 /pmc/articles/PMC7385090/ /pubmed/32742734 http://dx.doi.org/10.32607/actanaturae.10956 Text en Copyright ® 2020 National Research University Higher School of Economics. http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Iakovenko, E. V.
Abramycheva, N. Yu.
Fedotova, E. Yu.
Illarioshkin, S. N.
The SNCA-Rep1 Polymorphic Locus: Association with the Risk of Parkinson’s Disease and SNCA Gene Methylation
title The SNCA-Rep1 Polymorphic Locus: Association with the Risk of Parkinson’s Disease and SNCA Gene Methylation
title_full The SNCA-Rep1 Polymorphic Locus: Association with the Risk of Parkinson’s Disease and SNCA Gene Methylation
title_fullStr The SNCA-Rep1 Polymorphic Locus: Association with the Risk of Parkinson’s Disease and SNCA Gene Methylation
title_full_unstemmed The SNCA-Rep1 Polymorphic Locus: Association with the Risk of Parkinson’s Disease and SNCA Gene Methylation
title_short The SNCA-Rep1 Polymorphic Locus: Association with the Risk of Parkinson’s Disease and SNCA Gene Methylation
title_sort snca-rep1 polymorphic locus: association with the risk of parkinson’s disease and snca gene methylation
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7385090/
https://www.ncbi.nlm.nih.gov/pubmed/32742734
http://dx.doi.org/10.32607/actanaturae.10956
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