中华医学杂志（英文版）2008，Vol.121Issue(8)：682-686,5.
Mitochondrial gene mutations and type 2 diabetes in Chinese families
Mitochondrial gene mutations and type 2 diabetes in Chinese families
LI Ming-zhen 1YU De-min 1YU Pei 1LIU De-min 1WANG Kun 2TANG Xin-zhi2
作者信息
- 1. Department of Endocrinology,Health Ministry Key Laboratory of Hormones and Development,Metabolic Disease Hospital of Tianjin Medical University,Tianjin 300070,China
- 2. Department of Biochemistry,Tianjin Medical University,Tianjin,300070,China
- 折叠
摘要
Abstract
Background Numerous mitochondrial DNA mutations are significantly correlated with development of diabetes. This study investigated mitochondrial gene, point mutations in patients with type 2 diabetes and their families. Methods Unrelated patients with type 2 diabetes(n=826)were randomly recruited; unrelated and nondiabetic subjects (n=637)served as controls. The clinical and biochemical data of the participants were collected. Total genome was extracted from peripheral leucocytes. Polymerase chain reaction, restriction fragment length polymorphism (PCR-RFLP)and clonig techniques were used to screen mitochondrial genes including np3316,np3394 and np3426 in the ND1 region and np3243 in the tRNALeu (UUR). Results In 39 diabetics with one or more mitochondrial gene point mutations, the prevalence(4.7%,39/826)of mtDNA mutations was higher than that(0.7%,5/637)in the controls. The identical mutation was found in 23 of 43 tested members from three pedigrees. Affected family members presented with variable clinical features ranging from normal glucose tolerance to impaired glucose tolerance (IGT)(n=2),impaired fasting glucose(IFG)(n=1)to type 2 diabetes (n=13)with 3 family members suffering from hearing loss. Conclusions Type 2 diabetes in China is associated with several mitochondrial gene mutations. Aged patients with diabetic family history had a higher prevalence of mutation and various clinical pictures. Mitochondrial gene mutation might be one of the genetic factors contributing to diabetic familial clustering.关键词
mitochondrial DNA/gene mutation/type 2 diabetesKey words
mitochondrial DNA/gene mutation/type 2 diabetes分类
医药卫生引用本文复制引用
LI Ming-zhen,YU De-min,YU Pei,LIU De-min,WANG Kun,TANG Xin-zhi..Mitochondrial gene mutations and type 2 diabetes in Chinese families[J].中华医学杂志（英文版）,2008,121(8):682-686,5.
