[Analysis of GBA mutations in patients with Parkinson's disease in the Krasnoyarsk region].

Q3 Medicine

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova Pub Date : 2023-01-01 DOI:10.17116/jnevro2023123041103

T N Subbotina, V G Abramov, A A Shaleva, S V Vereschagina, D V Pokhabov

{"title":"[Analysis of GBA mutations in patients with Parkinson's disease in the Krasnoyarsk region].","authors":"T N Subbotina, V G Abramov, A A Shaleva, S V Vereschagina, D V Pokhabov","doi":"10.17116/jnevro2023123041103","DOIUrl":null,"url":null,"abstract":"Objective: To analyze mutations and polymorphisms in exons 2, 7, 8, 9, 10 and 11 of the glucocerebrosidase (GBA) gene in patients of the Krasnoyarsk region diagnosed with Parkinson's disease (PD).Material and methods: Seventy-five patients with sporadic and familial forms of PD were examined. Genomic DNA was isolated from the whole blood of patients. The above mentioned exons of GBA were analyzed using Sanger sequencing.Results: Various changes in the DNA structure of GBA were detected in 11 patients, thus, the overall frequency of variants was 14.7%, and the frequency of pathologically significant mutations (p.L444P, p.D409H, p.H255Q) was 5.3%.Conclusion: The frequencies of variants in GBA, one of the most common high-risk factors for PD, in patients of the Krasnoyarsk region turned out to be quite high and comparable to that in patients in other populations of the world. Thus, screening for GBA mutations is relevant for PD patients living in the Krasnoyarsk region as part of genetic counseling at present, and in the future it may be necessary for personalized treatment.","PeriodicalId":24030,"journal":{"name":"Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.17116/jnevro2023123041103","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}

引用次数: 0

Abstract

Objective: To analyze mutations and polymorphisms in exons 2, 7, 8, 9, 10 and 11 of the glucocerebrosidase (GBA) gene in patients of the Krasnoyarsk region diagnosed with Parkinson's disease (PD).

Material and methods: Seventy-five patients with sporadic and familial forms of PD were examined. Genomic DNA was isolated from the whole blood of patients. The above mentioned exons of GBA were analyzed using Sanger sequencing.

Results: Various changes in the DNA structure of GBA were detected in 11 patients, thus, the overall frequency of variants was 14.7%, and the frequency of pathologically significant mutations (p.L444P, p.D409H, p.H255Q) was 5.3%.

Conclusion: The frequencies of variants in GBA, one of the most common high-risk factors for PD, in patients of the Krasnoyarsk region turned out to be quite high and comparable to that in patients in other populations of the world. Thus, screening for GBA mutations is relevant for PD patients living in the Krasnoyarsk region as part of genetic counseling at present, and in the future it may be necessary for personalized treatment.

查看原文本刊更多论文

[克拉斯诺亚尔斯克地区帕金森病患者GBA突变分析]。

目的:分析克拉斯诺亚尔斯克地区帕金森病(PD)患者葡萄糖脑苷酶(GBA)基因外显子2、7、8、9、10和11的突变和多态性。材料和方法:对75例散发性和家族性PD患者进行了检查。从患者的全血中分离出基因组DNA。上述GBA外显子采用Sanger测序进行分析。结果:11例患者中检测到GBA DNA结构的各种变化，变异总频率为14.7%，病理显著突变(p.L444P、p.D409H、p.H255Q)频率为5.3%。结论:作为PD最常见的高危因素之一，GBA在克拉斯诺亚尔斯克地区患者中的变异频率相当高，与世界其他人群相当。因此，目前对克拉斯诺亚尔斯克地区PD患者进行GBA突变筛查作为遗传咨询的一部分是有意义的，未来可能需要进行个性化治疗。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova Medicine-Psychiatry and Mental Health

CiteScore

0.80

自引率

0.00%

发文量