Article Sidebar

PDF (Tiếng Việt)
Published: 2024-09-11
Abstract Views: 127
Views PDF (Tiếng Việt): 82
DOI: https://doi.org/10.52852/tcncyh.v180i7.2466
Issue
Vol. 180 No. 7 (2024)
Section
Các bài báo
How to Cite
Chinh, V. T. ., Tuấn, P. L. A. ., Hải, L. H. L. ., Việt, N. H. ., Hằng, T. N. T. ., Thịnh, T. H. ., & Khánh, T. V. . (2024). 2. Identfication mutations in EIF4G1 gene with Parkinson’s disease patients. Journal of Medical Research, 180(7), 10-18. https://doi.org/10.52852/tcncyh.v180i7.2466

2. Identfication mutations in EIF4G1 gene with Parkinson’s disease patients

Vu Thi Chinh, Pham Le Anh Tuan, Le Ha Long Hai, Nguyen Hoang Viet, Tran Nguyen Thanh Hang, Tran Huy Thinh, Tran Van Khanh

Main Article Content

Abstract

Parkinson disease is the second most common neurodegenerative disorder after Alzheimers’s disease, affecting the patient’s ability to control muscles, balance, and movement. With the rapid growth of recent studies, genetic factors play a crucial role in the progression of Parkinson’s disease. In there, the EIF4G1 gene was facilitating the recruitment of mRNA to the ribosome, which is the rate-limiting step for protein synthesis under normal conditions, found to be associated with autosomal dominant inheritance late-onset Parkinson’s disease. The study aimed to identify mutations in the EIF4G1 gene in Parkinson’s patients by Sanger sequencing was performed in 30 Parkinson’s patients with an average age of 53.97 ± 7.35 years old, male/female ratio is 1.31. The research team detected point mutations on the EIF4G1 gene with the rate of 16.66%, corresponding to 5/30 patients carrying 5 different mutations. The research proved to be significant to not only patients and their families but also the database of Parkinson disease in Vietnam. 

Article Details

Keywords

Parkinson’s disease, mutation, Sanger, EIF4G1, PARK18

References

1. Rui Q, Ni H, Li D, et al. The Role of LRRK2 in Neurodegeneration of Parkinson Disease. Curr Neuropharmacol. 2018;16(9):1348-1357. doi:10.2174/1570159X16666180222165418
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. Tysnes OB, Storstein A. Epidemiology of Parkinson’s disease. J Neural Transm (Vienna). 2017;124(8):901-905. doi:10.1007/s00702-017-1686-y
4. Funayama M, Nishioka K, Li Y, et al. Molecular genetics of Parkinson’s disease: Contributions and global trends. J Hum Genet. 2023;68(3):125-130. doi:10.1038/s10038-022-01058-5
5. Deng H, Wu Y, Jankovic J. The EIF4G1 gene and Parkinson’s disease. Acta Neurol Scand. 2015;132(2):73-78. doi:10.1111/ane.12397
6. Fahn S. The history of dopamine and levodopa in the treatment of Parkinson’s disease. Mov Disord. 2008;23 Suppl 3:S497-508. doi:10.1002/mds.22028
7. Huttenlocher J, Krüger R, Capetian P, et al. EIF4G1 is neither a strong nor a common risk factor for Parkinson’s disease: evidence from large European cohorts: Table1. J Med Genet. 2015;52(1):37-41. doi:10.1136/jmedgenet-2014-102570
8. Nishioka K, Funayama M, Vilariño-Güell C, et al. EIF4G1 gene mutations are not a common cause of Parkinson’s disease in the Japanese population. Parkinsonism & Related Disorders. 2014;20(6):659-661. doi:10.1016/j.parkreldis.2014.03.004
9. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424. doi:10.1038/gim.2015.30