Article Sidebar

PDF (Tiếng Việt)
Published: 2023-10-31
Abstract Views: 380
Views PDF (Tiếng Việt): 287
DOI: https://doi.org/10.52852/tcncyh.v170i9.1900
Issue
Vol. 170 No. 9 (2023)
Section
Các bài báo
How to Cite
Tư, N. T., Việt, N. H., Tuấn, P. L. A., Nghĩa, T. T., Thịnh, T. H., & Khánh, T. V. (2023). 2. Determination of the GIGYF2 mutation in Parkinson patients. Journal of Medical Research, 170(9), 10-16. https://doi.org/10.52852/tcncyh.v170i9.1900

2. Determination of the GIGYF2 mutation in Parkinson patients

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

Main Article Content

Abstract

GIGYF2 (GRB10 Interacting GYF Protein 2) gene encodes a protein deeply involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson, mutations in the gene are directly related to Parkinson disease type 11. Thus, the identification of GIGYF2 gene mutations is important in determining the disease status as well as the basis for clinicians to make prognosis and genetic counseling. This study was conducted on 50 Parkinson's patients with an average age of 53.6 ± 8.9 years old, male/female ratio of 1.63. Using Sanger sequencing, the study detected 4/50 patients carrying mutations in the GIGYF2 gene (accounting for 8%), mutations are heterozygous.

Article Details

Keywords

Parkinson’s disease, mutation, GIGYF2

References

1. Juárez Olguín H, Calderón Guzmán D, Hernández García E, Barragán Mejía G. The Role of Dopamine and Its Dysfunction as a Consequence of Oxidative Stress. Oxidative medicine and cellular longevity. 2016; 2016: 9730467. doi:10.1155/2016/9730467.
2. Gene- NCBI - https://www.ncbi.nlm.nih.gov/gene/ GIGYF2 GRB10 interacting GYF protein 2 [ Homo sapiens (human).
3. J Hum Genet (2015). GIGYF2 mutation in late-onset Parkinson’s disease with cognitive impairment, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4624020/#SMtitle, truy cập ngày 02/07/2015.Mutations in the GIGYF2 (TNRC15) Gene at the PARK11 Locus in Familial Parkinson Disease.
4. Nhữ Đình Sơn. Nghiên cứu đặc điểm lâm sàng và một số yếu tố nguy cơ của bệnh PD. Tạp chí Y dược học quân sự 2004; (2).
5. Roohani M, Ali Shahidi G, Miri S.Demographic study of PD’s disease.
6. Roohani M, Ali Shahidi G, Miri S.Demographic study of PD’s disease in Iran: Data on 1656 cases. Iran J Neurol. 2011; 10(1-2):19-21.
7. Giovannone B, Lee E, Laviola L, Giorgino F, Cleveland KA and Smith RJ: Two novel proteins that are linked to insulin-like growth factor (IGF-I) receptors by the Grb10 adapter and modulate IGF-I signaling. J Biol Chem 278: 31564-31573, 2003.
8. Offen, D., Shtaif, B., Hadad, D., Weizman, A., Melamed, E., and Gil-Ad, I. (2001). Protective effect of insulin-like-growthfactor-1 against dopamine-induced neurotoxicity in human and rodent neuronal cultures: possible implications for Parkinson’s disease. Neurosci. Lett. 316, 129–132
9. Lei Wang et al.Novel GIGYF2 gene variants in patients with PD's disease in Chinese population. Neurosci Lett. 2010 Apr 5;473(2):131-135.