Session Information
Date: Monday, September 23, 2019
Session Title: Genetics
Session Time: 1:45pm-3:15pm
Location: Les Muses Terrace, Level 3
Objective: To study methylation status of SNCA gene in patients with Parkinson disease in Russian population
Background: The genetic background of Parkinson disease (PD) has not yet been fully understood. Genetic causes of monogenic forms can explain about 10-15% of all PD cases. For the rest the genetic causes are not identified, and this is a problem called “missing hereditability”. Epigenetic mechanisms, in particular, DNA methylation may help to explain this “missing hereditability”. We have chosen SNCA gene to study DNA methylation in Parkinson disease because this gene plays the main role in the pathogenesis of this disease.
Method: We studied 20 patients with PD (mean age 54.1±10.4 years, 7 males, 13 females). We analyzed DNA methylation level by performing bisulfate sequence analysis of intron 1 region of SNCA gene. This chosen region contained 16 CpG sites near exon 2. In each sample and in each CpG site we calculated a percent of methylation – (C/C+T)*100. The analysis of SNCA methylation was also performed in healthy age- and sex-matched control samples (n=20).
Results: At 5’-end of the analyzed region CpG sites were almost non-methylated and at 3’-end of the region most CpG sites were with a high methylation level in both PD and control groups. Among all sites only one CpG at the 3’-end showed hypomethylation in PD cases (37.5%) in comparison with the control group (42.2%; p(U)=0.034). The methylation level did not depend on age or gender. In PD group we observed the lowest levels of methylation in a case with SNCA duplication and in a heterozygous carrier of a “long” SNCA-Rep1-265 allele, whereas the highest levels of methylation was observed in 2 homozygous cases with “short” SNCA-Rep1-259 allele.
Conclusion: This is the first data on the analysis of methylation of SNCA in Parkinson disease in Russian population. We suggest that SNCA hypomethylation could play a role in the PD pathogenesis, and the level of methylation could be associated with genetic variants and PD mutations. Although further studies are necessary to confirm these preliminary results.
To cite this abstract in AMA style:
E. Iakovenko, N. Abramycheva, S. Illarioshkin, E. Fedotova. Methylation status of SNCA gene in patients with Parkinson disease in Russian population [abstract]. Mov Disord. 2019; 34 (suppl 2). https://www.mdsabstracts.org/abstract/methylation-status-of-snca-gene-in-patients-with-parkinson-disease-in-russian-population/. Accessed May 9, 2025.« Back to 2019 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/methylation-status-of-snca-gene-in-patients-with-parkinson-disease-in-russian-population/