郑州地区线粒体基因突变与2型糖尿病相关性分析

Correlation analysis on mitochondrial DNA gene mutation in type 2 diabetes mellitus in Zhengzhou

探讨线粒体t RNALeu(UUR)基因3243位点和NADH脱氢酶亚单位1(ND1)3394位点突变在河南省郑州地区2型糖尿病(type 2 diabetes mellitus,T2DM)人群中的发生率及其临床特征。随机抽取无血缘关系的T2DM患者295例及正常对照250名,采用聚合酶链反应—限制性片段长度多态性(PCR-RFLP)技术进行线粒体t RNALeu(UUR)基因3243位点及3394位点突变检测,比较线粒体基因突变在两组间分布的差异,并对样本的相关生化指标进行测定,从而得出河南省郑州地区2型糖尿病与线粒体基因点突变的相关性。2型糖尿病组中mt DNA 3243突变率为0.68%,mt DNA 3394突变率1.36%,在正常对照组未检出mt DNA 3243位点突变,mt DNA 3394突变率0.80%,组间基因型差异用χ2检验,各位点突变率差异均无统计学意义(p>0.05)。胰岛素水平和线粒体呼吸链酶复合物Ⅰ活性指标在有无突变组之间有明显差别(p<0.05)。线粒体t RNALeu(UUR)基因3243和ND1区3394位点突变不是河南省郑州地区2型糖尿病的主要病因,仅为人群中线粒体DNA的基因多态性。但此位点突变能引起空腹胰岛素水平和线粒体呼吸链酶复合物Ⅰ活性的下降,推测其对2型糖尿病的发生的其他因素有协同作用。

To investigate the prevalence and the clinical characteristics of mitochondrial DNA （mtDNA） dot mutation at po- sition t RNALeu（UUR） 3243 and NADH dehydronase subunt 3394 in patients with type 2 diabetes mellitus in Zhengzhou area. Meth- ods 295 cases of T2DM patients in Zhengzhou area were selected randomly and 250 individuals were healthy controls. The pres- ence of mtDNA 3243 and mtDNA 3394 mutations was determined by PLC-RFLP technique. To compare the differences in the distribution of mitochondrial mutation between the two groups, and to determine the biochemical parameters of the samples, so as to obtain the correlation between type 2 diabetes mellitus and mitochondrial gene point mutations in Zhengzhou area, Henan province. The frequency of mtDNA 3243A mutation was 0.68% in T2DM group and 0 in healthy control group, and the frequency of mtDNA 3394 mutation was 1.36% in T2DM group and 0.80% in healthy control group. No statistical differences in the frequency of the two mutations were found between these two groups. Insulin levels and mitochondrial respiratory chain enzyme complex I activity indexes were significantly different between the groups with and without mutation. Mutations of mitochondri- al gene tRNALeu （UUR） 3243 and ND1 region 3394 are not the main causes of type 2 diabetes mellitus in Zhengzhou area of Henan Province, and only the genetic polymorphism of mitochondrial DNA in the population. But the mutations can cause the decrease of fasting insulin level and mitochondrial respiratory chain enzyme complex I activity, it is speculated that they have a synergistic effect on the other factors of type 2 diabetes.