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Published: 2022-06-01
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DOI: https://doi.org/10.52852/tcncyh.v153i5.930
Issue
Vol. 153 No. 5 (2022)
Section
Các bài báo
How to Cite
Oanh, N. T. K. ., Tuấn, P. L. A. ., Việt, N. H. ., Thịnh, T. H. ., & Khánh, T. V. . (2022). 1. Indentifying mutation in GBA gene in Parkinson’s patients. Journal of Medical Research, 153(5), 1-9. https://doi.org/10.52852/tcncyh.v153i5.930

1. Indentifying mutation in GBA gene in Parkinson’s patients

Nguyen Thi Kieu Oanh, Pham Le Anh Tuan, Nguyen Hoang Viet, Tran Huy Thinh, Tran Van Khanh

Main Article Content

Abstract

GBA gene, which encodes the lysosome enzyme Gcase, is located on chromosome 1q21 including 11 exons and 10 introns. In patients with reduced Gcase activity, α-synuclein cellular level is significantly decreased and lysosome function is damaged, leading to cell death of dopaminergic neurons and expression of typical phenotypes in Parkinson's disease. GBA gene mutation accounts for 2-30% of Parkinson's disease patients, based on many researches with different ethnicities and geologic regions. GBA gene mutation search on Parkinson's disease patient holds great importance in finding disease condition as well as serves as a basis for clinical doctors to make prognosis and give consultation. This study was performed on a cohort of 30 patients diagnosed with Parkinson's disease at the National Geriatric Hospital. Mean age of participants is 55.6 ±8.79, ratio of male to female patients is 1.3. Using Sanger sequencing, this study found that 5/30 patients carry GBA gene mutation (taking up 16.7%) with 5 different types of mutation. All variables 5 are mutant zygotes, nucleotide substitutions.

Article Details

Keywords

Parkinson’s disease, mutation, GBA gene

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