Department of Endocrinology and Metabolism, Henan Provincial People's Hospital, Zhengzhou University, Zhengzhou, Henan 450003, China.
Gene. 2013 Dec 1;531(2):472-5. doi: 10.1016/j.gene.2013.09.019. Epub 2013 Sep 19.
Mutations of mitochondrial DNA are associated with diabetes mellitus (DM). The present case-control study aimed to investigate the mutations of mitochondrial DNA in DM patients of Chinese Han ethnicity.
A total of 770 DM patients and 309 healthy control individuals were enrolled. The mitochondrial DNA was extracted from blood cells and analyzed by the polymerase chain reaction-restriction fragment length polymorphism assay. In the diabetes group, there were 13 (1.69%) individuals carrying the mt3243 A → G mutation while none of the healthy control had this mutation. Though the 14709, 3316, 3394, and 12026 mutation variants were identified in 9, 17, 18 and 28 in DM patients respectively, there were no significant differences compared with control group. And the 3256, 8296, 8344, 8363, 3426 and 12258 mutations were not detected in either group. In the diabetes group, two double mutations were identified: A3243G+T3394C and A3243G+A12026G.
Our data suggested that mitochondrial gene tRNA(Leu(UUR)) 3243 A → G mutation may be one risk of prevalence of DM and associated with worse clinical status in Chinese Han population.
线粒体 DNA 突变与糖尿病（DM）有关。本病例对照研究旨在调查中国汉族 DM 患者中线粒体 DNA 的突变。
共纳入 770 例 DM 患者和 309 例健康对照者。从血细胞中提取线粒体 DNA，采用聚合酶链反应-限制性片段长度多态性分析方法进行分析。在糖尿病组中，有 13 例（1.69%）个体携带 mt3243 A→G 突变，而健康对照组中无一例携带该突变。虽然在 DM 患者中分别发现了 9、17、18 和 28 例中的 14709、3316、3394 和 12026 突变变体，但与对照组相比，差异无统计学意义。并且在任何一组中都未检测到 3256、8296、8344、8363、3426 和 12258 突变。在糖尿病组中，发现了两种双重突变：A3243G+T3394C 和 A3243G+A12026G。
我们的数据表明，线粒体基因 tRNA（Leu（UUR））3243 A→G 突变可能是 DM 患病率的一个危险因素，并与中国汉族人群中更差的临床状况有关。
