线粒体DNA ND4 12026基因突变与糖尿病

目的 研究线粒体DNADN412026位点在中国上海地区非肥胖2型糖尿病患者中的突变情况。并探讨该位点突变的临床特征。方法 采用PCR-SSCP、PCR-RFLP及PCR产物直接测序等技术检测线粒体DNAND4片段的突变情况。结果 发现286例糖尿病患者血样中有12例患者mtDNAND4基因上12026位点存在AtoG的点突变，导致异亮氨酸错义突变成缬氨酸，而在242例非糖尿病对照组个体中仅1例存在同样突变，对该位点突变的临床分析发现起病年龄低。58%有家族史，需要胰岛素治疗。结论 12026位点AtoG的突变可能与糖尿病的发生有关，并有一定的临床特征。

The DNA ND4 12026 A to G mutation of mitochondria and type 2 diabetes

Objective To investigate the prevalence of mutation at position 12026 of mitochondrial ND4 gene in Chinese diabetes and analyze the clinical characteristics of these patients. Methods Using PCR SSCP, PCR RFLP and PCR product direct sequencing technique, we analyzed the mutation of mitochondrial DNA(mtDNA) ND4 gene. Results A to G mutation at position 12026 of mitochondrial DNA ND4 were found in 12 diabetics (12/286) and one in the control subjects, which was resulted from misplacement of isoleucine by valine. The patients with mutation exhibited characteristics of early onset, more family histories(58%) and needed insulin therapy more frequently than the patients without the mutation.Conclusion We infer that the mutation at position 12026 is related to the development of diabetes.