IDENTIFICATION OF SNCA AND PARK7 MUTATION IN PARKINSON’S DISEASE

Trần Tín Nghĩa1, Trần Vân Khánh1, Trần Huy Thịnh1,
1 Hanoi Medical University

Main Article Content

Abstract

Parkinson's disease is the second of the most common neurodegenerative disorders in the elderly after Alzheimer's. The disease characterized by the selective degeneration of substantia nigra dopaminergic neuron, leading to a decrease in dopamine content, 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 identify mutations of the SNCA gene and PARK7 gene of Parkinson’s patients by sequencing method. 35 Parkinson’s patients were selected in this study. Direct sequencing method was used to identify SNCA and PARK7 mutations. Results: 5,71% of cases had SNCA mutations, 2,86% of cases had PARK7 mutations, 91,43% of cases did not have mutations. The average age was 56,3±8,7. The ratio of male/female was 1,19.

Article Details

References

1. 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
2. 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
3. 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
4. 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
5. 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).
6. 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
7. 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.
8. 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
9. 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