TY  - JOUR
T1  - Molecular Insights into Proprotein Convertase Subtilisin/Kexin Type 9 Mutations in Vietnamese Hypercholesterolemia Cases
A1  - Phuong Dong Tran Nguyen
A1  - Nang Hoang Pham
A1  - Phuong Kim Truong
JF  - Journal of Medical Sciences and Interdisciplinary Research
JO  - J Med Sci Interdiscip Res
SN  - 3108-4826
Y1  - 2021
VL  - 1
IS  - 1
DO  - 10.51847/6i6m1kRzNL
SP  - 21
EP  - 27
N2  - Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a crucial enzyme involved in the regulation of circulating low-density lipoprotein cholesterol (LDL-C). Variations in the PCSK9 gene can have significant effects on LDL receptor degradation—gain-of-function mutations accelerate receptor breakdown and contribute to familial hypercholesterolemia (FH), while loss-of-function mutations increase receptor availability, lower LDL-C levels, and reduce the risk of coronary heart disease. The genetic variants of PCSK9 in the Vietnamese population remain unknown. Therefore, this study aimed to investigate the molecular characteristics of the PCSK9 gene in Vietnamese patients diagnosed with hypercholesterolemia. Peripheral blood samples were collected from 26 patients at a local hospital, and the PCSK9 gene was analyzed using PCR-sequencing. The identified variants were compared to the reference sequence (NG_009061) for screening. A total of 60 variants were identified in 14 out of 26 patients (53.85%). Among them, 50 variants (83.33%) were novel, including 24 predicted to be damaging, 11 classified as benign, and 15 classified as variants of uncertain significance. The functional impact of the novel variants was assessed using PolyPhen-2 and FSPLICE. This study provides insight into the spectrum of PCSK9 variants in Vietnamese hypercholesterolemia patients and emphasizes the relevance of genetic diagnosis for the management of FH.
UR  - https://smerpub.com/article/molecular-insights-into-proprotein-convertase-subtilisinkexin-type-9-mutations-in-vietnamese-hyperc-rrfybqy5mtmflth
ER  -