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Predictive efficiency of transcriptome analysis for identifying modifier genes in Parkinson’s disease associated with GBA1 mutations
https://doi.org/10.25557/2073-7998.2025.10.52-54
Abstract
Not all GBA1-carriers develop Parkinson’s disease (PD) during their lifetime. Previously, we identified alterations in gene expression profile of the PI3K/AKT/mTOR signaling pathway in the brain cells of mouse model of parkinsonism with GCase dysfunction by transcriptome analysis. In the current study orthogonal validation of transcriptome data revealed increased DDIT4 gene expression in peripheral blood mononuclear cells from GBA1-Carriers compared to GBA1-associated PD patients, that may be considered as a potential modifier of PD among carriers of mutations in the GBA1 gene.
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
A. I. Bezrukova
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute» ; First Pavlov State Medical University of St. Petersburg
Russian Federation
Russian Federation
1, mkr. Orlova roshcha, Gatchina, 188350
6-8, L’va Tolstogo st., Saint Petersburg, 197022
K. S. Basharova
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute» ; First Pavlov State Medical University of St. Petersburg
Russian Federation
Russian Federation
1, mkr. Orlova roshcha, Gatchina, 188350
6-8, L’va Tolstogo st., Saint Petersburg, 197022
I. V. Miliukhina
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute» ; Institute of the Human Brain RAS
Russian Federation
Russian Federation
1, mkr. Orlova roshcha, Gatchina, 188350
9, acad. Pavlova st., Saint Petersburg, 197022
S. N. Pchelina
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute» ;First Pavlov State Medical University of St. Petersburg
Russian Federation
Russian Federation
1, mkr. Orlova roshcha, Gatchina, 188350
6-8, L’va Tolstogo st., Saint Petersburg, 197022
T. S. Usenko
Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute» ; First Pavlov State Medical University of St. Petersburg
Russian Federation
Russian Federation
1, mkr. Orlova roshcha, Gatchina, 188350
6-8, L’va Tolstogo st., Saint Petersburg, 197022
References
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Review
For citations:
Bezrukova A.I., Basharova K.S., Miliukhina I.V., Pchelina S.N., Usenko T.S. Predictive efficiency of transcriptome analysis for identifying modifier genes in Parkinson’s disease associated with GBA1 mutations. Medical Genetics. 2025;24(10):52-54. (In Russ.) https://doi.org/10.25557/2073-7998.2025.10.52-54
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