线粒体DNA变异与老年2型糖尿病患者易感性的相关性

目的 研究湖北地区老年2型糖尿病(T2DM)患者中线粒体基因突变的发生率及其相关性.方法 采用PCR-RFLP、基因测序技术,对175例老年T2DM患者和200例糖耐量正常的健康老年对照组进行检测.结果 MIND1 3316(G→A)、MTTL1 3243(A→G)、MIND13394( T→C)、MIND14216(T→C) MIND14164(A→G)和MIND2 5178( T→C)变异率分别为3.26％、2.72％、1.71％、4％、34.9％；对照组检出3316(G→A)突变2例(0.99％)、4164 5例(0.99％)、5718(T→C)变异64例(32.3％),未检出3394、4216的点突变；两组间3394(T→C)变异率差别有统计学意义(P＜0.05)；且T2DM组5178A基因型血清TC水平低于5178C基因型(P＜0.05),但TG、LDL-C、HDL-C、apoA、apoB、Lp(a)水平两组无统计学意义.结论 3394( T→C)与老年T2DM患者的易感性有一定关联,5178(T→C)变异与湖北地区老年汉族人T2DM的脂代谢相关.

Association of mitochondrial DNA variation with type 2 diabetes mellitus

Objective To explore the prevalence of mitochondrial DNA(mtDNA) mutations in patients with type 2 diabetes mellitus(T2DM) in Hubei.Methods 175 cases with T2DM and 200 matched healthy controls with normal glucose tolerance were recruited.PCR-RFLP analysis and DNA sequencing were used to detect the variant of mtDNA,including MIND13316(G→A),MIND13394(T→C),MTTL1 3243(A→G),MIND14216(T→C),MIND14164(A→G) and MIND2 5178(T→C).Results The mutation rate of mtDNA G3316A,T3394C,A14693G was 3.26%,2.72% and 1.71% respectively in T2DM group,while in the control group,the point mutations of T3394C and A4216G were not detected but two subjects with 3316(G→A) were found(0.99%).There were significant differences between two groups in mutation rate of 3394 T→C(P<0.05).The prevalence of 5 178 variant among T2DM was significantly higher than that of controls(36.9% vs 26.6%,P=0.03).Moreover,the T2DM patients with 5178 variant showed lower cholesterin level compared with those without 16 189 variant.Conclusions The mutations of T3394C may contribute to genetic predisposition to T2DM.The T16189C variant is associated with insulin resistance and risk factor of diabetes.