Article Sidebar

PDF (Tiếng Việt)
Published: 2023-03-31
Abstract Views: 174
Views PDF (Tiếng Việt): 209
DOI: https://doi.org/10.52852/tcncyh.v164i3.1477
Issue
Vol. 164 No. 3 (2023)
Section
Các bài báo
How to Cite
Nghĩa, T. T. ., Thịnh, T. H. ., Việt, N. H. ., Tuấn, P. L. A. ., & Khánh, T. V. . (2023). 4. Application next generation sequencing in mutation identification in Parkinson’s disease patients. Journal of Medical Research, 164(3), 25-32. https://doi.org/10.52852/tcncyh.v164i3.1477

4. Application next generation sequencing in mutation identification in Parkinson’s disease patients

Tran Tin Nghia, Tran Huy Thinh, Nguyen Hoang Viet, Pham Le Anh Tuan, Tran Van Khanh

Main Article Content

Abstract

Parkinson's disease is the second most common neurodegenerative disorder in the elderly after Alzheimer's. The disease is characterized by the progressive degeneration of substantia nigra dopaminergic neurons, leading to a decrease in dopamine content and affecting the transmission of nerve signals to ensure the normal process of muscle contraction. With the rapid growth of recent studies, genetic factors play a crucial role in the progression of Parkinson’s disease. The purpose of the research is to apply next generation sequencing to identify mutations in genes that are related to Parkinson’s disease. DNA extracted from peripheral blood samples of 40 Parkinson’s patients was sequenced using the whole-exome next generation sequencing method. Mutations were detected in 29 patients (72.5%). 18.0% of cases had GBA mutations and 16.0% of cases had ElF4G1 mutations. The average age was 53.33 ± 6.68. The ratio of male/female was 1.22

Article Details

Keywords

Parkinson’s disease, Next Generation Sequencing, mutation

References

1. Shi MM, Shi CH, Xu YM. Rab GTPases: The Key Players in the Molecular Pathway of Parkinson’s Disease. Front Cell Neurosci. 2017;11. doi: 10.3389/FNCEL.2017.00081.
2. Shulman JM, De Jager PL, Feany MB. Parkinson’s Disease: Genetics and Pathogenesis. Annu Rev Pathol Mech Dis. 2011;6(1):193-222. doi: 10.1146/annurev-pathol-011110-130242.
3. Lunati A, Lesage S, Brice A. The genetic landscape of Parkinson’s disease. Rev Neurol (Paris). 2018;174(9):628-643. doi: 10.1016/j.neurol.2018.08.004.
4. Balestrino R, Schapira AHV. Parkinson disease. Eur J Neurol. 2020;27(1):27-42. doi: 10.1111/ene.14108.
5. Bonifati V. Genetics of Parkinson’s disease--state of the art, 2013. Parkinsonism Relat Disord. 2014;20(1):S23-28. doi: 10.1016/S1353-8020(13)70009-9.
6. Nhữ Đình Sơn. Nghiên cứu đặc điểm lâm sàng và một số yếu tố nguy cơ của bệnh Parkinson. Tạp chí Y Dược học Quân sự. 2012.
7. Nguyễn Thị N, Phạm Lê Anh T, Trần Vân K, Trần Huy T. Xác định đột biến gen LRRK2 ở bệnh nhân Parkinson. Tạp chí Nghiên cứu Y học. 2022;151(3):18-25.
8. Bộ Y tế. Nghiên cứu đặc điểm lâm sàng bệnh Parkinson ở người cao tuổi và tác dụng của Piribedil trong giai đoạn sớm. Accessed November 12, 2022. http://lienthuvien.yte.gov.vn/tai-lieu/benh-hoc-noi-khoa/nghien-cuu-dac-diem-lam-sang-benh-parkinson-o-nguoi-cao-tuoi-va-tac-dung-cua-piribedil-trong-giai-doan-som
9. Hruska KS, LaMarca ME, Scott CR, Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat. 2008;29(5):567-583. doi: 10.1002/humu.20676.
10. Behl T, Kaur G, Fratila O, et al. Cross-talks among GBA mutations, glucocerebrosidase, and α-synuclein in GBA-associated Parkinson’s disease and their targeted therapeutic approaches: a comprehensive review. Transl Neurodegener. 2021;10(1):4. doi: 10.1186/s40035-020-00226-x.
11. Sidransky E, Lopez G. The link between the GBA gene and parkinsonism. Lancet Neurol. 2012;11(11):986-998. doi: 10.1016/S1474-4422(12)70190-4.
12. Jia F, Fellner A, Kumar KR. Monogenic Parkinson’s Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing. Genes. 2022;13(3):471. doi: 10.3390/genes13030471.