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Published: 2023-06-20
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DOI: https://doi.org/10.52852/tcncyh.v167i6.1546
Issue
Vol. 167 No. 6 (2023)
Section
Các bài báo
How to Cite
Lâm, N. T., Tuấn, P. L. A., Nghĩa, T. T., Phương, L. T., Việt, N. H., Nhi, B. T. T., Thịnh, T. H., & Khánh, T. V. (2023). 1. Park2 gene mutation in parkinson patients. Journal of Medical Research, 167(6), 1-8. https://doi.org/10.52852/tcncyh.v167i6.1546

1. Park2 gene mutation in parkinson patients

Nguyen Tien Lam, Pham Le Anh Tuan, Tran Tin Nghia, Le Thi Phuong, Nguyen Hoang Viet, Bui Tran Tuyet Nhi, Tran Huy Thinh, Tran Van Khanh

Main Article Content

Abstract

PARK2 gene encodes parkin protein, functions as an E3 ubiquitin ligase. PARK2 mutations are among the main causes of familial chromosomal Parkinson's disease, characterized by early onset (before 50 years of age). Mutations in the PARK2 gene segment account for about 9.5% - 14% of patients with early onset. This study aims to identify deletion mutations on the PARK2 gene in Parkinson's patients and family members. In a study conducted on 30 Parkinson's patients with an average age of 51.47 ± 11.91 years old, male/female ratio of 1.3, we found that 4/30 patients (13.3%) carried mutations in the PARK2 gene segment differentiated by MLPA technique. This study shows practical implications for patients and contributes to the Parkinson's disease database as well as genetic consultation for family members.

Article Details

Keywords

Parkinson’s disease, gene mutation, MLPA, PARK2

References

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