title: ÐÐ»Ð¸ÑÐ½Ð¸Ðµ Ð¼ÑÑÐ°ÑÐ¸Ð¹ Ð³ÐµÐ½Ð¾Ð² Ð»Ð¸Ð·Ð¾ÑÐ¾Ð¼Ð½ÑÑ Ð±Ð¾Ð»ÐµÐ·Ð½ÐµÐ¹ Ð½Ð°ÐºÐ¾Ð¿Ð»ÐµÐ½Ð¸Ñ Ð½Ð° ÑÐ¸ÑÐº ÑÐ°Ð·Ð²Ð¸ÑÐ¸Ñ Ð±Ð¾Ð»ÐµÐ·Ð½Ð¸ ÐÐ°ÑÐºÐ¸Ð½ÑÐ¾Ð½Ð°
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: Influence of mutations of genes of lysosomal storage diseases at the risk of the development of Parkinson's disease
Creators: name: ÐÐ¾Ð¶Ð¸Ñ, ÐÐ°ÑÐº
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: 2020
Subjects: Ð±Ð¾Ð»ÐµÐ·Ð½Ñ ÐÐ°ÑÐºÐ¸Ð½ÑÐ¾Ð½Ð°
ÑÐµÑÐ½Ð°Ñ ÑÑÐ±ÑÑÐ°Ð½ÑÐ¸Ñ
Ð´Ð¾ÑÐ°Ð¼Ð¸Ð½ÐµÑÐ³Ð¸ÑÐµÐºÑÐ¸Ðµ Ð½ÐµÐ¹ÑÐ¾Ð½Ñ
Ð»Ð¸Ð·Ð¾ÑÐ¾Ð¼Ð½ÑÐµ Ð±Ð¾Ð»ÐµÐ·Ð½Ð¸ Ð½Ð°ÐºÐ¾Ð¿Ð»ÐµÐ½Ð¸Ñ
GBA
TPP1
CLN3
Ð-ÐÐÐ¤Ð
Parkinson's disease
substantia nigra
dopaminergic neurons
lysosomal storage diseases
CNL3
L-DOPA

description: ÐÐ¾Ð»ÐµÐ·Ð½Ñ ÐÐ°ÑÐºÐ¸Ð½ÑÐ¾Ð½Ð° âÑÐ°ÑÐ¿ÑÐ¾ÑÑÑÐ°Ð½ÐµÐ½Ð½Ð¾Ðµ Ð½ÐµÐ¹ÑÐ¾Ð´ÐµÐ³ÐµÐ½ÐµÑÐ°ÑÐ¸Ð²Ð½Ð¾Ðµ Ð·Ð°Ð±Ð¾Ð»ÐµÐ²Ð°Ð½Ð¸Ðµ, Ð¾ÑÐ½Ð¾Ð²Ð° Ð¿Ð°ÑÐ¾Ð³ÐµÐ½ÐµÐ·Ð° ÐºÐ¾ÑÐ¾ÑÐ¾Ð³Ð¾ Ð·Ð°ÐºÐ»ÑÑÐ°ÐµÑÑÑ Ð² Ð°Ð³ÑÐµÐ³Ð°ÑÐ¸Ð¸ Ð±ÐµÐ»ÐºÐ° Ð°Ð»ÑÑÐ°-ÑÐ¸Ð½ÑÐºÐ»ÐµÐ¸Ð½Ð°. ÐÐ°Ð¸Ð±Ð¾Ð»ÐµÐµ ÑÐ°ÑÑÐ¾ Ð²ÑÑÑÐµÑÐ°ÐµÐ¼ÑÐ¼ Ð³ÐµÐ½ÐµÑÐ¸ÑÐµÑÐºÐ¸Ð¼ ÑÐ°ÐºÑÐ¾ÑÐ¾Ð¼ Ð²ÑÑÐ¾ÐºÐ¾Ð³Ð¾ ÑÐ¸ÑÐºÐ° ÑÐ°Ð·Ð²Ð¸ÑÐ¸Ñ Ð±Ð¾Ð»ÐµÐ·Ð½Ð¸ ÐÐ°ÑÐºÐ¸Ð½ÑÐ¾Ð½Ð° ÑÐ²Ð»ÑÑÑÑÑ Ð¼ÑÑÐ°ÑÐ¸Ð¸ Ð²Ð³ÐµÐ½Ðµ Ð³Ð»ÑÐºÐ¾ÑÐµÑÐµÐ±ÑÐ¾Ð·Ð¸Ð´Ð°Ð·Ñ. Ð¦ÐµÐ»ÑÑ Ð½Ð°ÑÑÐ¾ÑÑÐµÐ³Ð¾ Ð¸ÑÑÐ»ÐµÐ´Ð¾Ð²Ð°Ð½Ð¸Ñ Ð¾ÑÐµÐ½ÐºÐ° ÑÐ°ÑÑÐ¾ÑÑ Ð¼ÑÑÐ°ÑÐ¸Ð¹ Ð² Ð³ÐµÐ½Ð°Ñ ÐÐÐ ÑÑÐµÐ´Ð¸ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐ¾Ð² Ñ ÐÐ Ð¸ Ð»Ð¸Ñ ÐºÐ¾Ð½ÑÑÐ¾Ð»ÑÐ½Ð¾Ð¹ Ð³ÑÑÐ¿Ð¿Ñ, Ð° ÑÐ°ÐºÐ¶Ðµ Ð¸Ñ Ð°ÑÑÐ¾ÑÐ¸Ð°ÑÐ¸Ð¸ Ñ ÑÐ¸ÑÐºÐ¾Ð¼ ÑÐ°Ð·Ð²Ð¸ÑÐ¸Ñ Ð·Ð°Ð±Ð¾Ð»ÐµÐ²Ð°Ð½Ð¸Ñ Ð² Ð¡ÐµÐ²ÐµÑÐ¾-ÐÐ°Ð¿Ð°Ð´Ð½Ð¾Ð¼ ÑÐµÐ³Ð¸Ð¾Ð½Ðµ Ð Ð¤. Ð¡ÐºÑÐ¸Ð½Ð¸Ð½Ð³ Ð¼ÑÑÐ°ÑÐ¸Ð¹ S62L (C185T) Ð³ÐµÐ½Ð° TPP1Ð¸ N370S Ð³ÐµÐ½Ð° GBA Ð±ÑÐ» Ð¿ÑÐ¾Ð²ÐµÐ´ÐµÐ½ Ð¼ÐµÑÐ¾Ð´Ð¾Ð¼ Ð°Ð»Ð»ÐµÐ»ÑÐ½Ð¾Ð¹ Ð´Ð¸ÑÐºÑÐ¸Ð¼Ð¸Ð½Ð°ÑÐ¸Ð¸, Ð¼ÑÑÐ°ÑÐ¸Ð¹ H404N (C1210A) Ð³ÐµÐ½Ð° CLN3Ð¸ L444P Ð³ÐµÐ½Ð° GBAÐ±ÑÐ» Ð¿ÑÐ¾Ð²ÐµÐ´ÐµÐ½ 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Ð¿Ð¾Ð»Ð½ÐµÐ½Ð° Ð¾ÑÐµÐ½ÐºÐ° ÑÐ°ÑÑÐ¾ÑÑ Ð²ÑÑÑÐµÑÐ°ÐµÐ¼Ð¾ÑÑÐ¸ Ð¼ÑÑÐ°ÑÐ¸Ð¹ Ð³ÐµÐ½Ð¾Ð² ÐÐÐ Ð¸ Ð¸Ñ Ð²Ð»Ð¸ÑÐ½Ð¸Ðµ Ð½Ð° Ð¾ÑÐ½Ð¾ÑÐ¸ÑÐµÐ»ÑÐ½ÑÐ¹ ÑÐ°Ð½Ñ ÑÐ°Ð·Ð²Ð¸ÑÐ¸Ñ Ð·Ð°Ð±Ð¾Ð»ÐµÐ²Ð°Ð½Ð¸Ñ, Ð²ÐºÐ»ÑÑÐ°Ñ ÑÐ°Ð½Ð½ÑÑ ÑÐ¾ÑÐ¼Ñ ÐÐ, ÑÑÐµÐ´Ð¸ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐ¾Ð² Ñ ÐÐ Ð¸ Ð² ÐºÐ¾Ð½ÑÑÐ¾Ð»ÑÐ½Ð¾Ð¹ Ð³ÑÑÐ¿Ð¿Ðµ. ÐÑÐ» Ð¿ÑÐ¾Ð²ÐµÐ´ÐµÐ½ ÑÑÐ°Ð²Ð½Ð¸ÑÐµÐ»ÑÐ½ÑÐ¹ Ð°Ð½Ð°Ð»Ð¸Ð· ÑÑÐµÐ´Ð½ÐµÐ¹ ÑÐºÐ²Ð¸Ð²Ð°Ð»ÐµÐ½ÑÐ½Ð¾Ð¹ Ð´Ð¾Ð·Ñ Ð-ÐÐÐ¤Ð Ð¿ÑÐµÐ¿Ð°ÑÐ°ÑÐ¾Ð², Ð¿ÑÐ¸Ð¼ÐµÐ½ÑÐµÐ¼ÑÑ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐ°Ð¼Ð¸ Ñ GBA-Ð°ÑÑÐ¾ÑÐ¸Ð¸ÑÐ¾Ð²Ð°Ð½Ð½Ð¾Ð¹ ÐÐ Ð¸ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐ°Ð¼Ð¸ ÑÐ¾ ÑÐ¿Ð¾ÑÐ°Ð´Ð¸ÑÐµÑÐºÐ¾Ð¹ ÑÐ¾ÑÐ¼Ð¾Ð¹ Ð·Ð°Ð±Ð¾Ð»ÐµÐ²Ð°Ð½Ð¸Ñ.Ð§Ð°ÑÑÐ¾ÑÐ° Ð¼ÑÑÐ°ÑÐ¸Ð¹ L444P (T1448C) Ð¸ N370S (A1226G) Ð³ÐµÐ½Ð° GBA, H404N (C1210A) Ð² Ð³ÐµÐ½Ðµ CLN3ÑÑÐµÐ´Ð¸ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐ¾Ð² Ñ ÐÐ Ð² Ð¡ÐµÐ²ÐµÑÐ¾-ÐÐ°Ð¿Ð°Ð´Ð½Ð¾Ð¼ ÑÐµÐ³Ð¸Ð¾Ð½Ðµ Ð Ð¤ ÑÐ¾ÑÑÐ°Ð²Ð¸Ð»Ð¸ 0.87%, 0.56% Ð¸ 0.032%. ÑÐ¾Ð¾ÑÐ²ÐµÑÑÑÐ²ÐµÐ½Ð½Ð¾.Ð Ð¡ÐµÐ²ÐµÑÐ¾-ÐÐ°Ð¿Ð°Ð´Ð½Ð¾Ð¼ ÑÐµÐ³Ð¸Ð¾Ð½Ðµ Ð Ð¤ Ñ Ð½Ð¾ÑÐ¸ÑÐµÐ»ÐµÐ¹ Ð¼ÑÑÐ°ÑÐ¸Ð¸ L444P (T1448C) Ð³ÐµÐ½Ð° GBA Ð±ÑÐ» Ð²ÑÑÐ²Ð»ÐµÐ½ Ð¿Ð¾Ð²ÑÑÐµÐ½Ð½ÑÐ¹ ÑÐ¸ÑÐº ÑÐ°Ð·Ð²Ð¸ÑÐ¸Ñ ÑÐ°Ð½Ð½ÐµÐ¹ ÑÐ¾ÑÐ¼Ñ ÐÐ Ð² 9.49 ÑÐ°Ð·.
description: Parkinsonâs disease(PD)âcommon neurodegenerative disease, in which neu-ronal death is associated with alpha-synuclein protein aggregation.The most common genetic risk factor for developing Parkinson's disease are mutations in the gluco-cerebrosidase gene.The aim of this study is to assess the frequency of mutations in the Lysosomal storagediseases (LSD)genes among patients with PD and control group individuals, as well as their association with the risk of developing the disease in the North-West region of the Russian Federation.The mutations S62L (C185T) of the TPP1and N370S gene of the GBAgene were screened for method of allelic discrimination, the H404N (C1210A) mutations of the CLN3and L444P gene of the GBAgene were PCR followed by restriction analysis. Assessing the frequency of occurrence of mutations in LSDgenes and their effect on the relative chance of developing diseases, including the early form of PD, among pa-tients with PD and in the control group. A comparative analysis of the average equiv-alent dose of L-DOPA preparations used by patients with GB-associated PD and pa-tients with a sporadic form of the disease was carried out.The mutation frequency of L444P (T1448C) and N370S (A1226G) gene GBA, H404N (C1210A) in the CLN3gene among patients with PD in the North-West region of the Russian Federation amounted to 0.87%, 0.56% and 0.032%. respectively.In the Northwest region of the Russian Federation, carriers of the L444P (T1448C) mutation of the GBAgene were found to have an increased risk of develop-ing an early form of PD by 9.49 times.