Screening for mutations in the GBA1 and LRRK2 genes in schizophrenia in the Northwestern region of Russia
https://doi.org/10.52667/2712-9179-2026-6-2-56-60
Abstract
Schizophrenia (SCZ) is a severe mental disorder which exact pathogenesis remains unknown. The disorder has been linked to disturbances in lipid metabolism and lysosomal function. A link between this disorder and Parkinson's disease (PD) is suggested. Pathogenic mutations in the GBA1 gene, which lead to dysfunction of the lysosomal enzyme glucocerebrosidase, are a highrisk factor of PD. Meanwhile, mutations in the LRRK2 gene are the most common cause of hereditary forms of PD and may indirectly affect the activity of this enzyme. GBA1and LRRK2related PD are the most prevalent forms of the disease known today. Materials and Methods: In this study, we used PCR-RFLP and real-time PCR allelic discrimination to assess the frequency of mutations in the LRRK2 (G2019S) and GBA1 (N370S, L444P, E326K) genes among 161 SCZ patients and 434 control individuals residing in the Northwestern region of Russia. Results: The study found no association between the investigated mutations and the risk of SCZ. Among SCZ patients, no carriers of the N370S mutation in the GBA1 gene or the G2019S mutation in the LRRK2 gene were identified. The frequency of GBA1 mutations (L444P+N370S+E326K) among SCZ patients was found to be 3.2%. Conclusions: Thus, this study demonstrated that mutations in the GBA1 gene are not associated with the risk of SCZ.
Supporting agencies: The research was carried out within the state assignment of Ministry of Science and Higher Education of the Russian Federation (theme №1023031500037-7-1.6.8;1.6.1;1.6.2;1.6.3).
About the Authors
Olesya V. Syryeva
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute»
Russian Federation
Russian Federation
Gatchina
Anna O. Lavrinova
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute»;
Pavlov First Saint Petersburg State Medical University
Russian Federation
Russian Federation
Gatchina
Saint Petersburg
Evgenia A. Demidova
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute»
Russian Federation
Russian Federation
Gatchina
Victoria N. Pidyurchina
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute»
Russian Federation
Russian Federation
Gatchina
Tatyana S. Usenko
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute»;
Pavlov First Saint Petersburg State Medical University
Russian Federation
Russian Federation
Gatchina
Saint Petersburg
Anna K. Krapova
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute»
Russian Federation
Russian Federation
Gatchina
Alexandra O. Moshkovskaya
V.M. Bekhterev National Medical Research Centre for Psychiatry and Neurology
Russian Federation
Russian Federation
Saint Petersburg
Natalia M. Zalutskaya
V.M. Bekhterev National Medical Research Centre for Psychiatry and Neurology
Russian Federation
Russian Federation
Saint Petersburg
Regina F. Nasyrova
V.M. Bekhterev National Medical Research Centre for Psychiatry and Neurology
Russian Federation
Russian Federation
Saint Petersburg
Nikolay G. Neznanov
V.M. Bekhterev National Medical Research Centre for Psychiatry and Neurology
Russian Federation
Russian Federation
Saint Petersburg
Sofya N. Pchelina
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute»;
Pavlov First Saint Petersburg State Medical University
Russian Federation
Russian Federation
Gatchina
Saint Petersburg
Anton K. Emelyanov
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute»;
Pavlov First Saint Petersburg State Medical University
Russian Federation
Russian Federation
Tel.: +7 (81371) 4-60-93
Gatchina
Saint Petersburg
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Review
For citations:
Syryeva O.V., Lavrinova A.O., Demidova E.A., Pidyurchina V.N., Usenko T.S., Krapova A.K., Moshkovskaya A.O., Zalutskaya N.M., Nasyrova R.F., Neznanov N.G., Pchelina S.N., Emelyanov A.K. Screening for mutations in the GBA1 and LRRK2 genes in schizophrenia in the Northwestern region of Russia. Personalized Psychiatry and Neurology. 2026;6(2):56-60. https://doi.org/10.52667/2712-9179-2026-6-2-56-60
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