心肌mtDNA^(4977)缺失与扩张型心肌病猝死的关系

A study on relationship between the myocardial mitochondrial DNA deletion in the cases of dilated cardiomyopathy and sudden death

目的:探讨扩张型心肌病(DCM)猝死者心肌线粒体DNA(mtDNA)4977缺失情况及其与猝死的关 系。方法:从近7年尸检案例中挑选11例DCM猝死和14例对照组病例及心肌组织蜡块,按常规方法提取心肌 mtDNA,用PCR、琼脂糖紫外凝胶成像技术确定扩增产物激光密度,初步定量检测mtDNA4977缺失率。结果: DCM猝死11例中,未成年人2例;成人9例,均为男性,年龄22～49(平均38)岁。对照组14例中,未成年人1 例;成人13例,其中男11例,女2例,年龄19～47(平均37.23)岁,死因为机械性损伤和窒息各2例,电击死2例, 中毒2例,非心肌病猝死6例。DCM11例(占100%)、对照组2例(占14.28%)检见不同程度的mtDNA4977缺失; 两组病例mtDNA4977缺失率均值分别为0.92%和0.09%,差异有统计学意义。结论:DCM猝死者心肌可检见 mtDNA4977缺失;其心肌mtDNA4977缺失突变与DCM猝死有关。

Objective:To study the myocardial mitochondrial DNA (mt DNA) deletion in the cases of sudden death due to dilated cardiomyopathy and its relationship with sudden death. Method:To extract myocardial mtDNA from the cases of sudden death due to dilated cardiomyopathy and the control group autopsied in our department with common method and to detect laser density of the production with PCR ultraviolet ray imaging technique, and then the rate of myocardial mtDNA 4977 deletion were tested quantitatively. Result:In 11 cases of sudden death due to dilated cardiomyopathy, the mtDNA 4977 deletion had been detected in all cases(100%). In 14 cases of control group, the mtDNA 4977 deletion had been detected in only 2 cases ( 14.28%).The average value of myocardial mtDNA 4977 deletion rate in two groups were 0.92% and 0.09% respectively and their difference had statistically significance. Conclusion: Myocardial mtDNA 4977 deletion can be detected in all cases of sudden death due to dilated cardiomyopathy and the mutation of myocardial mtDNA 4977 deletion is related to sudden death.