5. Identification of SNCA, PARK2, PARK7, LRRK2 mutation in Parkinson’s disease patients
Main Article Content
Abstract
Parkinson’s disease (PD) is the second most common neurodegenerative disease worldwide, imposing significant physical, mental, social, and financial burden on patients and caregivers. PD is characterized by cardinal features of resting tremor, cogwheel rigidity, bradykinesia, and postural instability. 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 identify mutations of the SNCA, PARK2, PARK7, and LRRK2 genes of Parkinson’s patients by sequencing method. 50 Parkinson’s patients were selected for this study. The direct sequencing method was used to identify SNCA, PARK2, PARK7, and LRRK2 mutations. Results: 4.0% of cases had SNCA mutations, 8.0% of cases had PARK2 mutations, 2.0% of cases had PARK7 mutations, 6.0% of cases had LRRK2 mutations, 80.0% of cases did not have mutations. The average age was 52.86 ± 10.06. The ratio of male/female was 1.17.
Article Details
Keywords
Parkinson’s disease, mutation, SNCA, PARK2, PARK7, LRRK2
References
2. Coskuner-Weber O, Uversky VN. Insights into the Molecular Mechanisms of Alzheimer’s and Parkinson’s Diseases with Molecular Simulations: Understanding the Roles of Artificial and Pathological Missense Mutations in Intrinsically Disordered Proteins Related to Pathology. Int J Mol Sci. 2018;19(2):336. doi: 10.3390/ijms19020336.
3. Fleming SM. Mechanisms of Gene-Environment Interactions in Parkinson’s Disease. Curr Environ Health Rep. 2017;4(2):192-199. doi: 10.1007/s40572-017-0143-2.
4. Deng H, Wang P, Jankovic J. The genetics of Parkinson disease. Ageing Res Rev. 2018;42:72-85. doi: 10.1016/j.arr.2017.12.007.
5. Krüger R, Kuhn W, Müller T, et al. Ala30Pro mutation in the gene encoding α-synuclein in Parkinson’s disease. Nat Genet. 1998;18(2):106-108. doi: 10.1038/ng0298-106.
6. Deng H, Dodson MW, Huang H, Guo M. The Parkinson’s disease genes pink1 and parkin promote mitochondrial fission and/or inhibit fusion in Drosophila. Proc Natl Acad Sci U S A. 2008;105(38):14503-14508. doi: 10.1073/pnas.0803998105.
7. Bonifati V, Rizzu P, van Baren MJ, et al. Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism. Science. 2003;299(5604):256-259. doi: 10.1126/science.1077209.
8. Rui Q, Ni H, Li D, Gao R, Chen G. The Role of LRRK2 in Neurodegeneration of Parkinson Disease. Curr Neuropharmacol. 2018;16(9):1348-1357. doi: 10.2174/1570159X16666180222165418.
9. 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.
10. Nguyễn Thanh Bình. Đặc điểm triệu chứng vận động và ngoài vận động của bệnh nhân Parkinson. Tạp Chí Học Thực Hành. 2017;1053(8).
11. Karampetsou M, Ardah M, Semitekolou M, et al. Phosphorylated exogenous alpha-synuclein fibrils exacerbate pathology and induce neuronal dysfunction in mice. Sci Rep. 2017;7. doi: 10.1038/s41598-017-15813-8.
12. Guo Y, Sun Y, Song Z, et al. Genetic Analysis and Literature Review of SNCA Variants in Parkinson’s Disease. Front Aging Neurosci. 2021;13. Accessed April 19, 2022. https://www.frontiersin.org/article/10.3389/fnagi.2021.648151.
13. Sadhukhan T, Biswas A, Das SK, Ray K, Ray J. DJ-1 variants in Indian Parkinson’s disease patients. Dis Markers. 2012;33(3):127-135. doi: 10.1155/2012/467085.
14. Sanz FJ, Solana-Manrique C, Muñoz-Soriano V, Calap-Quintana P, Moltó MD, Paricio N. Identification of potential therapeutic compounds for Parkinson’s disease using Drosophila and human cell models. Free Radic Biol Med. 2017;108:683-691. doi: 10.1016/j.freeradbiomed.2017.04.364.