SPECTRUM OF LRRK2 VARIANTS IN EARLY-ONSET PARKINSON’S DISEASE IDENTIFIED FROM EXOME SEQUENCING DATA

Ma Thị Huyền Thương; Hoàng Thị Dung; Vũ Phương Nhung; Trần Thị Bích Ngọc; Lê Thành Nam; Lê Ngọc Minh; Lê Vũ Bảo Trang; Trần Ngọc Tài; Nguyễn Đức Thuận; Nguyễn Đăng Tôn

doi:10.34238/tnu-jst.13162

SPECTRUM OF LRRK2 VARIANTS IN EARLY-ONSET PARKINSON’S DISEASE IDENTIFIED FROM EXOME SEQUENCING DATA

About this article

Received: 02/07/25 Revised: 30/10/25 Published: 31/10/25

Authors

1. Ma Thi Huyen Thuong, Institute of Biology - Vietnam Academy of Science and Technology
2. Hoang Thi Dung, 103 Military Hospital - Vietnam Military Medical University
3. Vu Phuong Nhung, Institute of Biology - Vietnam Academy of Science and Technology
4. Tran Thi Bich Ngoc, Institute of Biology - Vietnam Academy of Science and Technology
5. Le Thanh Nam, Institute of Biology - Vietnam Academy of Science and Technology
6. Le Ngoc Minh, Institute of Biology - Vietnam Academy of Science and Technology
7. Le Vu Bao Trang, University of Science and Technology of Hanoi
8. Tran Ngoc Tai, University Medical Center HCMC - University of Medicine and Pharmacy at HCMC
9. Nguyen Duc Thuan, 103 Military Hospital - Vietnam Military Medical University
10. Nguyen Dang Ton , Institute of Biology - Vietnam Academy of Science and Technology

Abstract

The LRRK2 gene (leucine-rich repeat kinase 2) is one of the most common and most intensively studied genes in genetic research related to Parkinson’s disease. Variants in LRRK2 have been implicated not only as causative mutations in monogenic forms of PD but also as risk-modifying factors influencing disease susceptibility. In this study, LRRK2 variants were screened and evaluated from available exome data of 97 Vietnamese patients with early-onset Parkinson’s disease. Results indicated that none of LRRK2 pathogenic variants were identified in this cohort. Instead, several risk-associated or protective variants reported in Asian populations were observed, including G2385R, R1628P, S1647T, A419V, R1398H, and N551K. Notably, one individual was found to carry both the risk variant R1628P and a potentially protective haplotype of N551K-R1398H-K1423K. In conclusion, this study provides a comprehensive overview of the LRRK2 variant spectrum in Vietnamese patients with early-onset Parkinson’s disease, contributing to the variant database and forming a general picture of possible molecular contributors to disease susceptibility.

Keywords

LRRK2; Parkinson; Early-onset Parkison’s disease; Rick variant; Protective variant

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DOI: https://doi.org/10.34238/tnu-jst.13162

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