论文部分内容阅读
目的 探讨线粒体 DNA(mitochondrial DNA,mt DNA)突变与糖尿病的关系。方法 应用聚合酶链反应 (PCR)和限制性酶切技术 ,检查 10 0例 2型糖尿病和 110名正常对照者外周血白细胞 mt DNA点突变情况。结果 检测到 1种在糖尿病人群中高发的点突变 :NADH脱氢酶亚单位 - 1(NADH dehydro-genase subunit- 1,ND- 1)基因 (nt) 3394T→C转换。受试 10 0例患者中 3394突变阳性者有 6例 (6 % ) ,正常对照仅 1人 (0 .9% )。该位点突变引起线粒体呼吸链 ND- 1亚单位的氨基酸序列改变 ,使一个高度保守的中性酪氨酸错义成亲水性组氨酸 ,从而影响 NADH脱氢酶活性 ,ATP合成减少。结论 该位点突变可增加糖尿病发生的易感性。
Objective To investigate the relationship between mitochondrial DNA (mt DNA) mutation and diabetes mellitus. Methods Polymerase chain reaction (PCR) and restriction enzyme digestion were used to detect the mutation of mt DNA in peripheral blood leukocytes in 100 type 2 diabetic patients and 110 normal controls. Results A single point mutation detected in the diabetic population was detected: NADH dehydro-genase subunit-1 (ND) 1 (nt) 3394T → C translocation. Sixty-three (6%) of the 10,093 patients tested positive for the 3394 mutation, compared with only 1 (0 .9%) in the normal control. This site mutation causes a change in the amino acid sequence of the ND-1 subunit of the mitochondrial respiratory chain, resulting in the missense of a highly conserved neutral tyrosine into a hydrophilic histidine, thereby affecting NADH dehydrogenase activity and decreasing ATP synthesis. Conclusion The site mutation can increase the susceptibility to diabetes.