Journal of Siberian Federal University. Biology / An Analysis of Prevailing Pathogenic Variants in the LRRK2 Gene within a Sample of Patients with Parkinson’s Disease in Krasnoyarsk Krai

Full text (.pdf)
Issue
Journal of Siberian Federal University. Biology. 2026 19 (2)
Authors
Shalyova, Aleksandra A.; Subbotina, Tatiana N.; Abramov, Vladislav G.; Pokhabov, Denis D.; Pokhabov, Dmitry V.
Contact information
Shalyova, Aleksandra A.: Siberian Federal University (Krasnoyarsk, Russian Federation); Federal Siberian Research and Clinical Center of the Federal Medical and Biological Agency of Russia (Krasnoyarsk, Russian Federation); ; ORCID: 0000-0002-2505-5978; Subbotina, Tatiana N. : Siberian Federal University (Krasnoyarsk, Russian Federation); Federal Siberian Research and Clinical Center of the Federal Medical and Biological Agency of Russia (Krasnoyarsk, Russian Federation); ORCID: 0000-0001-7790-5033; Abramov, Vladislav G.: Federal Siberian Research Clinical Center under FMBA of Russia (Krasnoyarsk, Russian Federation); ORCID: 0000-0002-4063-4951; Pokhabov, Denis D.: Federal Siberian Research and Clinical Center of the Federal Medical and Biological Agency of Russia (Krasnoyarsk, Russian Federation); Voino-Yasenetsky Krasnoyarsk State Medical University (Krasnoyarsk, Russian Federation); ORCID: 0000-0001-6970-1436; Pokhabov, Dmitry V.: Federal Siberian Research and Clinical Center of the Federal Medical and Biological Agency of Russia (Krasnoyarsk, Russian Federation); Voino-Yasenetsky Krasnoyarsk State Medical University (Krasnoyarsk, Russian Federation); ORCID: 0000-0003-3355-6278
Keywords
LRRK2; p.G2019S; p.R1441C; p.R1441G; Parkinson’s disease; LRRK2; p.G2019S; p.R1441C; p.R1441G
Abstract

The LRRK2 gene and its pathogenic germline variants are among the most common genetic causes of Parkinson’s disease. The prevalence of these variants in the gene remains poorly studied in Russian PD patients, particularly in those in Krasnoyarsk Krai. The study aimed to assess the prevalence of the LRRK2 gene p.G2019S, p.R1441C and p.R1441G variants among PD patients in Krasnoyarsk Krai. The sample included a total of 70 patients: 66 patients with sporadic PD and 4 patients with familial PD. Additionally, three daughters of a familial PD patient who carried the p.G2019S variant in the LRRK2 gene were examined. The screening for p.G2019S, p.R1441C and p.R1441G variants in the LRRK2 gene was conducted using allele-specific real-time PCR, with variant confirmation performed via Sanger sequencing. The study identified the p.G2019S variant in only one familial PD patient and in one of the three daughters of that patient. The p.R1441C and p.R1441G variants were not detected within this sample. The observed prevalence of p.G2019S variant was 1.4 %, aligning with existing literature data. This analysis is clinically relevant for genetic counselling in PD patients

Pages
385–394
EDN
XJKMSA
Paper at repository of SibFU
https://elib.sfu-kras.ru/handle/2311/159253

Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC 4.0).