中华医学杂志（英文版）Issue(7)：985-989,5.
Relationship between mutations of mitochondrial DNA ND1 gene and type 2 diabetes
Relationship between mutations of mitochondrial DNA ND1 gene and type 2 diabetes
于珮 1于德民 1刘德敏 1王琨 2汤新之2
作者信息
- 1. Metabolic Disease Hospital, Tianjin Medical University, Tianjin 300070, China
- 2. Department of Biochemistry, Tianjin Medical University, Tianjin 300070, China
- 折叠
摘要
Abstract
Background Recent studies have indicated that many mutations in mitochondrial (mt)DNA NDI gene region are related to diabetes mellitus. In this study we explored the relationship between various mtDNA ND1 gene mutations and type 2 diabetes mellitus (DM) among Chinese. Methods Using PCR restriction fragment length polymorphism (PCR-RFLP) analysis and gene sequencing, 4 spots of mtDNA (nt3243, nt3316, nt3394, nt3426) were screened in 478 diabetics and 430 non-diabetic subjects.Results In diabetic group, there were 13 carriers (2.72%)of 3316 G→A mutation,12 (2.51%) of 3394 T→C mutation and 2 (0.42%) of 3426A→G mutation. In controls, only 3394 T→C mutation was observed in 2 subjects (0.47%). There was significant difference in the frequency of 3316 and 3394 mutation between two groups (P<0.05, respectively). More subjects with mitochondrial DNA ND1 gene mutations had DM family history and greater tendency of maternal inheritance when compared to those patients without mutation in diabetic group(P<0.01). A 3426 mutation diabetic pedigree was studied, and we found 12 maternal members in the family had the same mutation. Conclusion mtDNA ND1 gene mutations at nt3316 (G→A), nt3394 (T→C) and 3426 (A→G) might contribute to the pathogenesis of DM with other genetic factors and environment factors.关键词
mitochondrial DNA/diabetes mellitus/gene mutationKey words
mitochondrial DNA/diabetes mellitus/gene mutation分类
医药卫生引用本文复制引用
于珮,于德民,刘德敏,王琨,汤新之..Relationship between mutations of mitochondrial DNA ND1 gene and type 2 diabetes[J].中华医学杂志（英文版）,2004,(7):985-989,5.
