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

Autor:	Subbotina TN; Siberian federal university, Krasnoyarsk, Russia.; Federal Siberian Research and Clinical Center, Krasnoyarsk, Russia., Abramov VG; Federal Siberian Research and Clinical Center, Krasnoyarsk, Russia., Shaleva AA; Siberian federal university, Krasnoyarsk, Russia.; Federal Siberian Research and Clinical Center, Krasnoyarsk, Russia., Vereschagina SV; Federal Siberian Research and Clinical Center, Krasnoyarsk, Russia., Pokhabov DV; Federal Siberian Research and Clinical Center, Krasnoyarsk, Russia.; Voino-Yasenetsky Krasnoyarsk State Medical University, Krasnoyarsk, Russia.
Jazyk:	ruština
Zdroj:	Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova [Zh Nevrol Psikhiatr Im S S Korsakova] 2023; Vol. 123 (4), pp. 103-108.
DOI:	10.17116/jnevro2023123041103
Abstrakt:	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.
Databáze:	MEDLINE
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