title: Ð­ÐºÑÐ¿ÑÐµÑÑÐ¸Ñ Ð³ÐµÐ½Ð¾Ð² Ð¼ÐµÐ¼Ð±ÑÐ°Ð½Ð½ÑÑ Ð±ÐµÐ»ÐºÐ¾Ð² Ð¸ ÑÐµÑÐ¼ÐµÐ½ÑÐ¾Ð² Ð»Ð¸Ð·Ð¾ÑÐ¾Ð¼ Ð² Ð¿Ð°ÑÐ¾Ð³ÐµÐ½ÐµÐ·Ðµ Ð±Ð¾Ð»ÐµÐ·Ð½Ð¸ ÐÐ°ÑÐºÐ¸Ð½ÑÐ¾Ð½Ð°, Ð°ÑÑÐ¾ÑÐ¸Ð¸ÑÐ¾Ð²Ð°Ð½Ð½Ð¾Ð¹ Ñ Ð¼ÑÑÐ°ÑÐ¸ÑÐ¼Ð¸ Ð² Ð³ÐµÐ½Ðµ GBA
title: Ð²ÑÐ¿ÑÑÐºÐ½Ð°Ñ ÐºÐ²Ð°Ð»Ð¸ÑÐ¸ÐºÐ°ÑÐ¸Ð¾Ð½Ð½Ð°Ñ ÑÐ°Ð±Ð¾ÑÐ° Ð¼Ð°Ð³Ð¸ÑÑÑÐ°
titleType: Subtitle
title: Expression profile of genes encoding membrane proteins and enzymes of lysosomes in pathogenesis of GBA-associated Parkinsonâs disease
Creators: name: ÐÐµÐ·ÑÑÐºÐ¾Ð²Ð°, ÐÐ½Ð°ÑÑÐ°Ñ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: 2020
Subjects: Ð±Ð¾Ð»ÐµÐ·Ð½Ñ ÐÐ°ÑÐºÐ¸Ð½ÑÐ¾Ð½Ð°
GBA
LAMP2
LAMP2A
GLA
GALNS
Ð°Ð»ÑÑÐ°-ÑÐ¸Ð½ÑÐºÐ»ÐµÐ¸Ð½
CD45+ ÐºÐ»ÐµÑÐºÐ¸ ÐºÑÐ¾Ð²Ð¸
Parkinson's disease
alpha-synuclein
CD45+ blood cells

description: ÐÐ°Ð³Ð¸ÑÑÐµÑÑÐºÐ°Ñ Ð´Ð¸ÑÑÐµÑÑÐ°ÑÐ¸Ñ Â«Ð­ÐºÑÐ¿ÑÐµÑÑÐ¸Ñ Ð³ÐµÐ½Ð¾Ð² Ð¼ÐµÐ¼Ð±ÑÐ°Ð½Ð½ÑÑ Ð±ÐµÐ»ÐºÐ¾Ð² Ð¸ ÑÐµÑÂ¬Ð¼ÐµÐ½ÑÐ¾Ð² Ð»Ð¸Ð·Ð¾ÑÐ¾Ð¼ Ð² Ð¿Ð°ÑÐ¾Ð³ÐµÐ½ÐµÐ·Ðµ Ð±Ð¾Ð»ÐµÐ·Ð½Ð¸ ÐÐ°ÑÐºÐ¸Ð½ÑÐ¾Ð½Ð°, Ð°ÑÑÐ¾ÑÐ¸Ð¸ÑÐ¾Ð²Ð°Ð½Ð½Ð¾Ð¹ Ñ Ð¼ÑÑÐ°ÑÐ¸Â¬ÑÐ¼Ð¸ Ð² Ð³ÐµÐ½Ðµ GBAÂ» Ð¿Ð¾ÑÐ²ÑÑÐµÐ½Ð° Ð¾ÑÐµÐ½ÐºÐµ ÑÐ¾Ð»Ð¸ Ð³ÐµÐ½Ð¾Ð² Ð¼ÐµÐ¼Ð±ÑÐ°Ð½Ð½ÑÑ Ð±ÐµÐ»ÐºÐ¾Ð² Ð¸ ÑÐµÑÐ¼ÐµÐ½Â¬ÑÐ¾Ð² Ð»Ð¸Ð·Ð¾ÑÐ¾Ð¼ Ñ Ð±Ð¾Ð»ÐµÐ·Ð½ÑÑ ÐÐ°ÑÐºÐ¸Ð½ÑÐ¾Ð½Ð° (ÐÐ), Ð°ÑÑÐ¾ÑÐ¸Ð¸ÑÐ¾Ð²Ð°Ð½Ð½Ð¾Ð¹ Ñ Ð¼ÑÑÐ°ÑÐ¸ÑÐ¼Ð¸ Ð² Ð³ÐµÐ½Ðµ GBA (GBA-ÐÐ). Ð ÑÐ¾Ð´Ðµ ÑÐ°Ð±Ð¾ÑÑ Ð±ÑÐ» ÑÐ¾Ð±ÑÐ°Ð½ Ð±Ð°Ð½Ðº CD45+ ÐºÐ»ÐµÑÐ¾Ðº Ð¿ÐµÑÐ¸ÑÐµÑÐ¸ÑÐµÑÐºÐ¾Ð¹ ÐºÑÐ¾Ð²Ð¸ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐ¾Ð² Ñ ÐÐ, GBA-ÐÐ, Ð±ÐµÑÑÐ¸Ð¼Ð¿ÑÐ¾Ð¼Ð½ÑÑ Ð½Ð¾ÑÐ¸ÑÐµÐ»ÐµÐ¹ Ð¼ÑÑÐ°ÑÐ¸Ð¹ Ð² Ð³ÐµÐ½Ðµ GBA (GBA-Ð½Ð¾ÑÐ¸ÑÐµÐ»Ð¸) Ð¸ ÐºÐ¾Ð½ÑÑÐ¾Ð»Ñ Ñ Ð¿Ð¾ÑÐ»ÐµÐ´ÑÑÑÐµÐ¹ Ð¾ÑÐµÐ½ÐºÐ¾Ð¹ ÑÐºÑÐ¿ÑÐµÑÑÐ¸Ð¸ Ð³ÐµÐ½Ð¾Ð² LAMP2, LAMP2A, GLA, GALNS, Ð° ÑÐ°ÐºÐ¶Ðµ ÑÑÐ¾Ð²Ð½Ñ Ð¼Ð ÐÐ Ð¸ Ð±ÐµÐ»ÐºÐ° Ð³ÐµÐ½Ð° Ð°Ð»ÑÑÐ°-ÑÐ¸Ð½ÑÐºÐ»ÐµÐ¸Ð½Ð° (Î±-ÑÐ¸Ð½ÑÐºÐ»ÐµÐ¸Ð½) Ð² Ð¸ÑÑÐ»ÐµÐ´ÑÐµÐ¼ÑÑ Ð³ÑÑÐ¿Ð¿Ð°Ñ Ñ Ð¿Ð¾ÑÐ»ÐµÐ´ÑÑÑÐµÐ¹ Ð¾ÑÐµÐ½ÐºÐ¾Ð¹ Ð°ÑÂ¬ÑÐ¾ÑÐ¸Ð°ÑÐ¸Ð¸ Ð²ÑÐµÑ Ð¸ÑÑÐ»ÐµÐ´ÑÐµÐ¼ÑÑ Ð¿Ð°ÑÐ°Ð¼ÐµÑÑÐ¾Ð² Ñ ÑÐ°Ð·Ð²Ð¸ÑÐ¸ÐµÐ¼ ÐÐ Ñ Ð½Ð¾ÑÐ¸ÑÐµÐ»ÐµÐ¹ Ð¼ÑÑÐ°ÑÐ¸Ð¹ Ð² Ð³ÐµÐ½Ðµ GBA. ÐÐ°Ð³Ð¸ÑÑÐµÑÑÐºÐ°Ñ Ð´Ð¸ÑÑÐµÑÑÐ°ÑÐ¸Ñ Ð²ÑÐ¿Ð¾Ð»Ð½ÐµÐ½Ð° Ð½Ð° Ð±Ð°Ð·Ðµ Ð»Ð°Ð±Ð¾ÑÐ°ÑÐ¾ÑÐ¸Ð¸ Ð¼Ð¾Ð»ÐµÐºÑÐ»ÑÑÐ½Ð¾Ð¹ Ð³ÐµÐ½ÐµÑÐ¸ÐºÐ¸ ÑÐµÐ»Ð¾Ð²ÐµÐºÐ° ÐÐÐ¦ Â«ÐÑÑÑÐ°ÑÐ¾Ð²ÑÐºÐ¸Ð¹ Ð¸Ð½ÑÑÐ¸ÑÑÑÂ» - ÐÐÐ¯Ð¤. ÐÐ¿ÐµÑÐ²ÑÐµ Ð¿Ð¾ÐºÐ°Ð·Ð°Ð½Ð¾, ÑÑÐ¾ Ð½Ð¾ÑÐ¸ÑÐµÐ»ÑÑÑÐ²Ð¾ Ð¼ÑÑÐ°ÑÐ¸Ð¹ Ð² Ð³ÐµÐ½Ðµ GBA Ð°ÑÑÐ¾ÑÐ¸Ð¸ÑÐ¾Ð²Ð°Ð½Ð¾ Ñ Ð¿Ð¾Ð²ÑÑÐµÐ½Ð½Ð¾Ð¹ ÑÐºÑÐ¿ÑÐµÑÑÐ¸Â¬ÐµÐ¹ Ð³ÐµÐ½Ð° Î±-ÑÐ¸Ð½ÑÐºÐ»ÐµÐ¸Ð½Ð° Ð² CD45+ ÐºÐ»ÐµÑÐºÐ°Ñ ÐºÑÐ¾Ð²Ð¸, Ð¿ÑÐ¸ ÑÑÐ¾Ð¼ ÑÐ¾Ð»ÑÐºÐ¾ GBA-Ð½Ð¾ÑÐ¸ÑÐµÐ»Ð¸ ÑÐ°ÑÐ°ÐºÑÐµÑÐ¸Ð·ÑÑÑÑÑ Ð¿Ð¾Ð²ÑÑÐµÐ½Ð½ÑÐ¼ ÑÑÐ¾Ð²Ð½ÐµÐ¼ Ð±ÐµÐ»ÐºÐ° Ð³ÐµÐ½Ð° Î±-ÑÐ¸Ð½ÑÐºÐ»ÐµÐ¸Ð½Ð°. ÐÑÑÐ²Ð»ÐµÐ½Ð¾ ÑÐ½Ð¸Ð¶ÐµÐ½Ð¸Ðµ ÑÐºÑÐ¿ÑÐµÑÑÐ¸Ð¸ Ð³ÐµÐ½Ð° LAMP2 Ð² CD45+ ÐºÐ»ÐµÑÐºÐ°Ñ ÐºÑÐ¾Ð²Ð¸ Ñ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐ¾Ð² GBA-ÐÐ Ð¿Ð¾ ÑÑÐ°Ð²Ð½ÐµÐ½Ð¸Ñ Ñ GBA-Ð½Ð¾ÑÐ¸ÑÐµÐ»ÑÐ¼Ð¸, ÑÑÐ¾ Ð¿Ð¾Ð·Ð²Ð¾Ð»ÑÐµÑ Ð¿ÑÐµÐ´Ð¿Ð¾Ð»Ð¾Ð¶Ð¸ÑÑ, ÑÑÐ¾ Ð³ÐµÐ½ LAMP2 Ð¼Ð¾Ð¶ÐµÑ ÑÐ²Ð»ÑÑÑÑÑ ÑÑÐ¸Ð³Ð³ÐµÑÐ¾Ð¼ GBA-ÐÐ. Ð ÑÐ¾Ð¶Ðµ Ð²ÑÐµÐ¼Ñ Ð²ÑÑÐ²Ð»ÐµÐ½Ð½Ð¾Ðµ ÑÐ²ÐµÐ»Ð¸ÑÐµÐ½Ð¸Ðµ ÑÐºÑÂ¬Ð¿ÑÐµÑÑÐ¸Ð¸ Ð³ÐµÐ½Ð¾Ð² GALNS, LAMP2A Ð² CD45+ ÐºÐ»ÐµÑÐºÐ°Ñ ÐºÑÐ¾Ð²Ð¸ Ñ GBA-Ð½Ð¾ÑÐ¸ÑÐµÐ»ÐµÐ¹ Ð¿Ð¾ ÑÑÐ°Ð²Ð½ÐµÐ½Ð¸Ñ Ñ ÐºÐ¾Ð½ÑÑÐ¾Ð»ÐµÐ¼ Ð¼Ð¾Ð¶ÐµÑ ÑÐ²Ð¸Ð´ÐµÑÐµÐ»ÑÑÑÐ²Ð¾Ð²Ð°ÑÑ Ð¾ Ð²Ð¾Ð²Ð»ÐµÑÐµÐ½Ð½Ð¾ÑÑÐ¸ ÑÑÐ¸Ñ Ð³ÐµÐ½Ð¾Ð² Ð² ÐºÐ¾Ð¼Ð¿ÐµÐ½ÑÐ°Â¬ÑÐ¾ÑÐ½ÑÐ¹ Ð¼ÐµÑÐ°Ð½Ð¸Ð·Ð¼. ÐÑÐ¸ Ð²ÑÐ¿Ð¾Ð»Ð½ÐµÐ½Ð¸Ð¸ Ð¼Ð°Ð³Ð¸ÑÑÐµÑÑÐºÐ¾Ð¹ Ð´Ð¸ÑÑÐµÑÑÐ°ÑÐ¸Ð¸ Ð±ÑÐ»Ð¸ Ð¿ÑÐ¾Ð²ÐµÐ´ÐµÐ½Ñ ÑÐ»ÐµÐ´ÑÑÑÐ¸Ðµ ÑÐºÑÐ¿ÐµÑÐ¸Ð¼ÐµÐ½ÑÑ: Ð²ÑÐ´ÐµÐ»ÐµÐ½Ð¸Ðµ CD45+ ÐºÐ»ÐµÑÐ¾Ðº Ð¸Ð· ÑÐµÐ»ÑÐ½Ð¾Ð¹ Ð²ÐµÐ½Ð¾Ð·Ð½Ð¾Ð¹ ÐºÑÐ¾Ð²Ð¸, Ð²ÑÐ´ÐµÐ»ÐµÐ½Ð¸Ðµ ÑÐ¾ÑÐ°Ð»ÑÐ½Ð¾Ð¹ Ð ÐÐ, ÑÐ¸Ð½ÑÐµÐ· ÐºÐÐÐ, ÐÐ¦Ð  Ð² ÑÐµÐ¶Ð¸Ð¼Ðµ ÑÐµÐ°Ð»ÑÐ½Ð¾Ð³Ð¾ Ð²ÑÐµÐ¼ÐµÐ½Ð¸, Ð¸Ð¼Ð¼ÑÐ½Ð½Ð¾-ÑÐµÑÐ¼ÐµÐ½ÑÐ½ÑÐ¹ Ð°Ð½Ð°Ð»Ð¸Ð·, ÑÑÐ°ÑÐ¸ÑÑÐ¸ÑÐµÑÐºÐ°Ñ Ð¾Ð±ÑÐ°Ð±Ð¾ÑÐºÐ° Ð´Ð°Ð½Ð½ÑÑ.
description: The master's work Â«Expression profile of genes encoding membrane proteins and enzymes of lysosomes in pathogenesis of GBA-associated Parkinsonâs diseaseÂ» is devoted to studying of the involvement genes encoding membrane proteins and lyÂ¬sosome enzymes in the pathogenesis of GBA-associated Parkinsonâs disease (PD). CD45+ blood cell bank were generated from patients with GBA-associated ParkinÂ¬sonâs disease (GBA-PD), non-manifesting GBA carriers (GBA-carriers), PD patients and control. LAMP2, LAMP2A, GLA, GALNS expression and mRNA and protein levÂ¬els of alpha-synuclein (Î±- synuclein) were estimated in all groups with evaluation of association of all estimated parameters with development of GBA-PD. The master's work based on the Laboratory of Human Molecular Genetics NRC âKurchatov Instituteâ â PNPI. Increased Î±-synuclein mRNA level in CD45+ blood cells of GBA-PD patients and GBA-carriers was shown while only GBA-carriers were characterized increased Î±-synuclein protein level in CD45+ blood cells comÂ¬pared to all groups. LAMP2 expression in CD45+ blood cells was decreased in GBA-PD patients compared to GBA-carriers that may suggest the role of the LAMP2 gene as trigger of GBA-PD. Also GALNS, LAMP2A expression levels in CD45+ blood cells were increased in GBA-carriers compared to control. It might be suggested of involvement of these genes in compensatory mechanism protecting against of GBA-PD developÂ¬ment. In the course of master's work sequence of primers and probes were designed by Primer3. The following experiments were carried out: extraction CD45+ blood cells, total RNA extraction, cDNA synthesis, real-time PCR to assess gene expression, enÂ¬zyme-linked immunosorbent assay to assess protein level, statistical analysis.