Study on the gene mutation of ARVC desmosomal protein in the population of Yunnan sudden unexplained death
10.3760/cma.j.cn231583-20240703-00189
- VernacularTitle:云南不明原因猝死病区人群ARVC桥粒蛋白基因突变研究
- Author:
Biao PAN
1
;
Huizuo ZHAO
;
Lin MA
;
Yanmei XI
;
Xue TANG
;
Meifen SHEN
;
Mengyao SUN
;
Yongpeng YANG
;
Yuebing WANG
Author Information
1. 昆明医科大学公共卫生学院，昆明 650500
- Publication Type:Journal Article
- Keywords:
Heart;
Yunnan sudden unexplained death;
Arrhythmogenic right ventricular cardiomyopathy;
Desmosomal proteins;
Gene mutation
- From:
Chinese Journal of Endemiology
2025;44(6):445-450
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To study the etiological relationship between Yunnan sudden unexplained death (hereinafter referred to as YNSUD) and the desmosomal protein gene mutation of arrhythmogenic right ventricular cardiomyopathy (ARVC).Methods:From September 2019 to August 2020, a cross-sectional survey method was used to select 9 key counties (cities) of YNSUD in Yunnan Province as survey sites. Autopsy cardiac blood samples of YNSUD cases ( n = 11) were collected, and peripheral venous blood samples of co-occurring case ( n = 1), case relatives ( n = 128), and control population ( n = 60) were collected. Genomic DNA from blood was extracted. After PCR amplification, 97 exons of 5 ARVC desmosomal protein genes, including plakophilin-2 (PKP2), desmoglein-2 (DSG2), desmocollin-2 (DSC2), desmoplakin (DSP), and junction plakoglobin (JUP) were sequenced by Sanger method, and the gene mutation was analyzed. Results:Compared with the control population, YNSUD cases, co-occurring case and case relatives carried 52 gene mutation sites in 36 exons of the ARVC desmosomal protein gene, with a total mutation rate of 37.11% (36/97). Among them, there were 21 in DSP gene, 10 in DSG2 gene, 8 in PKP2 gene, 8 in DSC2 gene, and 5 in JUP gene. YNSUD cases, co-occurring case and case relatives carried two same gene mutation sites: DSG2 gene exon 15 c.3321 T>C synonymous mutation and JUP gene exon 3 c.213 T>C synonymous mutation.Conclusions:The mutation rate of ARVC desmosomal protein gene is relatively high in the population of YNSUD. The two same gene mutation sites (DSG2 gene c.3321 T>C and JUP gene c.213 T>C) carried by YNSUD cases, co-occurring case and case relatives may be associated with the pathogenesis of YNSUD.
