浙江地区汉族人线粒体DNA ND1基因T3394C突变与老年2型糖尿病

目的 探讨线粒体DNA ND1基因T3394C突变与老年2型糖尿病的关系. 方法 采用聚合酶链反应(PCR)产物直接测序法对340例无血缘关系的2型糖尿病患者(其中老年糖尿病组90例,非老年糖尿病组250例)和265例健康对照者(老年健康对照组130例,非老年健康对照组135例)的血细胞线粒体DNA进行突变位点检测,并用DNASTAR和Antheprot 5.0软件分析突变位点. 结果 老年糖尿病组、老年健康对照组和非老年糖尿病组分别检出5例、1例和2例T3394C突变.T3394C突变在老年糖尿病组和老年健康对照组之间分布差异有统计学意义(P＜0.05),在老年糖尿病组和非老年糖尿病组之间分布差异也有统计学意义(P＜0.05).蛋白质结构预测显示T3394C突变引起ND1蛋白二级结构改变. 结论 线粒体DNA ND1基因T3394C突变可能与老年2型糖尿病的发生有关.

Relationship between the T3394C mutation of the mitochondrial DNA ND1 gene and type 2 diabetes mellitns in the elderly Chinese Han people in Zhejiang

Objective To explore the relationship between the T3394C mutation of the mitoehondrial DNA ND1 gene and type 2 diabetes mellitus (T2DM) in the elderly. Methods Direct sequencing of PCR product was applied to study the T3394C mutation of mitochondrial DNA in 340 unrelated individuals in T2DM patients (90 cases of elderly patients, 250 cases of non-elderly patients) and 265 normal controls (130 cases of elderly controls, 135 cases of non-elderly controls) from Zhejiang province. The mutation was analyzed by DNASTAR and Antheprot 5.0 softwares. Results The T3394C mutation of mitochondrial DNA was found in 5 of 90 elderly T2DM patients (5.6%),1 of 130 elderly controls(0.8%), and 2 of 250 non-elderly T2DM patients (0.8%). The incidence of the mutation was significantly different between the elderly T2DM patients and elderly controls(P＜0.05), as well as between the elderly T2DM patients and non-elderly T2DM patients(P＜0.05). The T3394C mutation caused the change of the ND1 protein secondary structure. Conclusions The T3394C mutation of the mitochondrial DNA ND1 gene may contribute to the pathogenesis of T2DM in the elderly with other genetic and environment factors.