title: ÐÐ»Ð¸ÑÐ½Ð¸Ðµ Ð²Ð°ÑÐ¸Ð°Ð½ÑÐ¾Ð² Ð³ÐµÐ½Ð° SNCA (rs3756063, rs356219, rs11931074, rs356168) Ð½Ð° ÑÑÐ¾Ð²ÐµÐ½Ñ Ð¼Ð ÐÐ ÐµÐ³Ð¾ ÑÐ¿Ð»Ð°Ð¹ÑÐ¸Ð½Ð³-Ð¸Ð·Ð¾ÑÐ¾ÑÐ¼ Ð¿ÑÐ¸ ÑÐ¸Ð½ÑÐºÐ»ÐµÐ¸Ð½Ð¾Ð¿Ð°ÑÐ¸ÑÑ
title: Ð²ÑÐ¿ÑÑÐºÐ½Ð°Ñ ÐºÐ²Ð°Ð»Ð¸ÑÐ¸ÐºÐ°ÑÐ¸Ð¾Ð½Ð½Ð°Ñ ÑÐ°Ð±Ð¾ÑÐ° Ð±Ð°ÐºÐ°Ð»Ð°Ð²ÑÐ°
titleType: Subtitle
title: The effect of the SNCA gene variants (rs3756063, rs356219, rs11931074, rs356168) on the mRNA level of its splicing isoforms in synucleinopathies
Creators: name: ÐÐ¸Ð´ÑÑÑÐ¸Ð½Ð°, ÐÐ¸ÐºÑÐ¾ÑÐ¸Ñ
Publisher: name: Ð¡Ð°Ð½ÐºÑ-ÐÐµÑÐµÑÐ±ÑÑÐ³ÑÐºÐ¸Ð¹ Ð¿Ð¾Ð»Ð¸ÑÐµÑÐ½Ð¸ÑÐµÑÐºÐ¸Ð¹ ÑÐ½Ð¸Ð²ÐµÑÑÐ¸ÑÐµÑ ÐÐµÑÑÐ° ÐÐµÐ»Ð¸ÐºÐ¾Ð³Ð¾
Year: 2024
Subjects: ÑÐ¸Ð½ÑÐºÐ»ÐµÐ¸Ð½Ð¾Ð¿Ð°ÑÐ¸Ð¸
Ð°Ð»ÑÑÐ°-ÑÐ¸Ð½ÑÐºÐ»ÐµÐ¸Ð½
Ð¾Ð´Ð½Ð¾Ð½Ð¾ÑÐºÐ»ÐµÐ¾ÑÐ¸Ð´Ð½ÑÐµ Ð²Ð°ÑÐ¸Ð°Ð½ÑÑ
ÑÐ¿Ð»Ð°Ð¹ÑÐ¸Ð½Ð³-Ð¸Ð·Ð¾ÑÐ¾ÑÐ¼Ñ
Ð¼ÑÐ»ÑÑÐ¸ÑÐ¸ÑÑÐµÐ¼Ð½Ð°Ñ Ð°ÑÑÐ¾ÑÐ¸Ñ
Ð´ÐµÐ¼ÐµÐ½ÑÐ¸Ñ Ñ ÑÐµÐ»ÑÑÐ°Ð¼Ð¸ ÐÐµÐ²Ð¸
Ð±Ð¾Ð»ÐµÐ·Ð½Ñ ÐÐ°ÑÐºÐ¸Ð½ÑÐ¾Ð½Ð°
Ð±Ð¾Ð»ÐµÐ·Ð½Ñ ÐÐ°ÑÐºÐ¸Ð½ÑÐ¾Ð½Ð° Ñ Ð´ÐµÐ¼ÐµÐ½ÑÐ¸ÐµÐ¹
synucleinopathies
alpha-synuclein
single
single-nucleotide polymorphisms
splicing isoforms
multiple system atrophy
dementia with Lewy bodies
Parkinsons disease
Parkinsons disease dementia

description: ÐÐ°Ð½Ð½Ð°Ñ ÑÐ°Ð±Ð¾ÑÐ° Ð¿Ð¾ÑÐ²ÑÑÐµÐ½Ð° Ð¾ÑÐµÐ½ÐºÐµ Ð²Ð»Ð¸ÑÐ½Ð¸Ñ Ð¾Ð´Ð½Ð¾Ð½ÑÐºÐ»ÐµÐ¾ÑÐ¸Ð´Ð½ÑÑ Ð²Ð°ÑÐ¸Ð°Ð½ÑÐ¾Ð² (ÐÐÐ) rs3756063(Ð¡/G), rs356219(A/G), rs11931074 (G/T), rs356168(A/G) Ð»Ð¾ÐºÑÑÐ° Ð³ÐµÐ½Ð° SNCA Ð½Ð° ÑÑÐ¾Ð²ÐµÐ½Ñ Ð¼Ð ÐÐ ÐµÐ³Ð¾ ÑÐ¿Ð»Ð°Ð¹ÑÐ¸Ð½Ð³-Ð¸Ð·Ð¾ÑÐ¾ÑÐ¼ (SNCA140, SNCA126, SNCA112) Ð² Ð»Ð¸Ð¼ÑÐ¾ÑÐ¸ÑÐ°Ñ Ð¿ÐµÑÐ¸ÑÐµÑÐ¸ÑÐµÑÐºÐ¾Ð¹ ÐºÑÐ¾Ð²Ð¸ (ÐÐÐ) Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐ¾Ð² Ñ ÑÐ¸Ð½ÑÐºÐ»ÐµÐ¸Ð½Ð¾Ð¿Ð°ÑÐ¸ÑÐ¼Ð¸ (ÐÐ¡Ð, ÐÐ¢Ð, ÐÐ, ÐÐÐ) Ð¸ Ð¸Ð½Ð´Ð¸Ð²Ð¸Ð´ÑÑÐ¼Ð¾Ð² ÐºÐ¾Ð½ÑÑÐ¾Ð»ÑÐ½Ð¾Ð¹ Ð³ÑÑÐ¿Ð¿Ñ. ÐÑÐµÐ½Ð¸Ð»Ð¸ Ð°ÑÑÐ¾ÑÐ¸Ð°ÑÐ¸Ñ ÐÐÐ Ð»Ð¾ÐºÑÑÐ° Ð³ÐµÐ½Ð° SNCA Ñ ÑÐ¸ÑÐºÐ¾Ð¼ ÑÐ°Ð·Ð²Ð¸ÑÐ¸Ñ ÑÐ¸Ð½ÑÐºÐ»ÐµÐ¸Ð½Ð¾Ð¿Ð°ÑÐ¸Ð¹ Ð² Ð¡ÐµÐ²ÐµÑÐ¾-ÐÐ°Ð¿Ð°Ð´Ð½Ð¾Ð¼ ÑÐµÐ³Ð¸Ð¾Ð½Ðµ Ð Ð¾ÑÑÐ¸Ð¸. ÐÑÐµÐ½Ð¸Ð»Ð¸ ÑÑÐ¾Ð²ÐµÐ½Ñ Ð¼Ð ÐÐ ÑÐ¿Ð»Ð°Ð¹ÑÐ¸Ð½Ð³-Ð¸Ð·Ð¾ÑÐ¾ÑÐ¼ Ð³ÐµÐ½Ð° SNCA Ð² ÐÐÐ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐ¾Ð² Ñ ÑÐ¸Ð½ÑÐºÐ»ÐµÐ¸Ð½Ð¾Ð¿Ð°ÑÐ¸ÑÐ¼Ð¸ Ð¸ Ð¸Ð½Ð´Ð¸Ð²Ð¸Ð´ÑÑÐ¼Ð¾Ð² ÐºÐ¾Ð½ÑÑÐ¾Ð»ÑÐ½Ð¾Ð¹ Ð³ÑÑÐ¿Ð¿Ñ. ÐÑÐµÐ½Ð¸Ð»Ð¸ Ð²Ð»Ð¸ÑÐ½Ð¸Ðµ ÐÐÐ Ð»Ð¾ÐºÑÑÐ° Ð³ÐµÐ½Ð° SNCA Ð½Ð° ÑÑÐ¾Ð²ÐµÐ½Ñ Ð¼Ð ÐÐ ÐµÐ³Ð¾ ÑÐ¿Ð»Ð°Ð¹ÑÐ¸Ð½Ð³-Ð¸Ð·Ð¾ÑÐ¾ÑÐ¼ Ð² ÐÐÐ Ñ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐ¾Ð² Ñ ÑÐ¸Ð½ÑÐºÐ»ÐµÐ¸Ð½Ð¾Ð¿Ð°ÑÐ¸ÑÐ¼Ð¸ Ð¸ Ð¸Ð½Ð´Ð¸Ð²Ð¸Ð´ÑÑÐ¼Ð¾Ð² ÐºÐ¾Ð½ÑÑÐ¾Ð»ÑÐ½Ð¾Ð¹ Ð³ÑÑÐ¿Ð¿Ñ. Ð¡ÐºÑÐ¸Ð½Ð¸Ð½Ð³ ÐÐÐ Ð¾ÑÑÑÐµÑÑÐ²Ð¸Ð»Ð¸ Ð¼ÐµÑÐ¾Ð´Ð¾Ð¼ ÐÐ¦Ð  Ñ Ð¿Ð¾ÑÐ»ÐµÐ´ÑÑÑÐ¸Ð¼ ÑÐµÑÑÑÐ¸ÐºÑÐ¸Ð¾Ð½Ð½ÑÐ¼ Ð°Ð½Ð°Ð»Ð¸Ð·Ð¾Ð¼. Ð£ÑÐ¾Ð²ÐµÐ½Ñ Ð¼Ð ÐÐ ÑÐ¿Ð»Ð°Ð¹ÑÐ¸Ð½Ð³-Ð¸Ð·Ð¾ÑÐ¾ÑÐ¼ Ð³ÐµÐ½Ð° SNCA Ð² ÐÐÐ Ð¾ÑÐµÐ½Ð¸Ð»Ð¸ Ð¼ÐµÑÐ¾Ð´Ð¾Ð¼ ÐºÐ¾Ð»Ð¸ÑÐµÑÑÐ²ÐµÐ½Ð½Ð¾Ð¹ ÐÐ¦Ð  Ð² ÑÐµÐ¶Ð¸Ð¼Ðµ ÑÐµÐ°Ð»ÑÐ½Ð¾Ð³Ð¾ Ð²ÑÐµÐ¼ÐµÐ½Ð¸. ÐÐÐ rs3756063, rs356219, rs356168, rs11931074 Ð°ÑÑÐ¾ÑÐ¸Ð¸ÑÐ¾Ð²Ð°Ð½Ñ Ñ ÑÐ¸ÑÐºÐ¾Ð¼ ÑÐ°Ð·Ð²Ð¸ÑÐ¸Ñ ÑÐ¸Ð½ÑÐºÐ»ÐµÐ¸Ð½Ð¾Ð¿Ð°ÑÐ¸Ð¹. Ð¡Ð¸Ð½ÑÐºÐ»ÐµÐ¸Ð½Ð¾Ð¿Ð°ÑÐ¸Ð¸ ÑÐ°ÑÐ°ÐºÑÐµÑÐ¸Ð·ÑÑÑÑÑ Ð¿Ð¾Ð½Ð¸Ð¶ÐµÐ½Ð½ÑÐ¼ ÑÑÐ¾Ð²Ð½ÐµÐ¼ Ð¼Ð ÐÐ ÑÐ¿Ð»Ð°Ð¹ÑÐ¸Ð½Ð³-Ð¸Ð·Ð¾ÑÐ¾ÑÐ¼Ñ SNCA140 Ð² ÐÐÐ. ÐÑÐ¸ ÐÐ¡Ð Ð½Ð°Ð±Ð»ÑÐ´Ð°ÐµÑÑÑ Ð¿Ð¾Ð²ÑÑÐµÐ½Ð¸Ðµ ÑÐ¾Ð¾ÑÐ½Ð¾ÑÐµÐ½Ð¸Ñ ÑÑÐ¾Ð²Ð½ÐµÐ¹ Ð¼Ð ÐÐ ÑÐ¿Ð»Ð°Ð¹ÑÐ¸Ð½Ð³-Ð¸Ð·Ð¾ÑÐ¾ÑÐ¼ SNCA112/SNCA140 Ð¸ SNCA112/SNCA126 Ð² ÐÐÐ. ÐÐÐ rs356219 Ð°ÑÑÐ¾ÑÐ¸Ð¸ÑÐ¾Ð²Ð°Ð½ Ñ Ð¿Ð¾Ð²ÑÑÐµÐ½Ð¸ÐµÐ¼ ÑÑÐ¾Ð²Ð½Ñ Ð¼Ð ÐÐ ÑÐ¿Ð»Ð°Ð¹ÑÐ¸Ð½Ð³-Ð¸Ð·Ð¾ÑÐ¾ÑÐ¼Ñ SNCA112 Ð² ÐÐÐ Ð¿ÑÐ¸ ÑÐ¸Ð½ÑÐºÐ»ÐµÐ¸Ð½Ð¾Ð¿Ð°ÑÐ¸ÑÑ.
description: The given work is devoted to the effect of the SNCA gene single-nucleotide polymorphisms (SNPs) rs3756063(Ð¡/G), rs356219(A/G), rs11931074 (G/T), rs356168(A/G)Â  on the mRNA level of its splicing isoforms (SNCA140, SNCA126, SNCA112) in peripheral blood lymphocytes (PBL) of patients with synucleinopathies (MSA, DLB, PD, PDD) and individuals of the control group. We evaluated the association of the SNCA gene SNPs with the risk of synucleinopathies in the Northwestern region of Russia. We assessed the level of mRNA of the splicing isoforms of the SNCA gene in PBL of patients with synucleinopathies and individuals of the control group. The influence of variants of the SNCA gene locus on the mRNA level of its splicing isoforms in PBL in patients with synucleinopathies and individuals of the control group was evaluated. SNPs rs3756063, rs356219, rs356168, rs11931074 are associated with synucleinopathies.Â  Synucleinopathies are characterized by a reduced level of mRNA of the splicing isoform SNCA140 in PBL.Â  In case of MSA, the ratio of mRNA levels of splicing isoforms SNCA112/SNCA140 and SNCA112/SNCA126 is increased in PBL. SNP rs356219 is associated with an increase in the mRNA level of the splicing isoform SNCA112 in PBL.