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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 investigate the deletion of 4977 mitochondrial DNA (mtDNA) 4977 in sudden death of dilated cardiomyopathy (DCM) and its relationship with sudden death. Methods: 11 cases of DCM sudden death and 14 cases of control group and myocardial tissue wax block were selected from the autopsy cases in recent 7 years. The myocardial mtDNA was extracted by routine method. The laser density of the amplified products was determined by PCR and agarose gel electrophoresis. Preliminary quantitative detection of mtDNA4977 deletion rate. Results: 11 cases of sudden death in DCM, 2 cases of minors; 9 cases of adults, both men, aged 22 to 49 (average 38) years. The control group of 14 cases, 1 minors; 13 cases of adult, including 11 males and 2 females, aged 19 to 47 (average 37.23) years of age, the cause of death were mechanical injury and asphyxia in 2 cases, 2 cases of electric shock , Poisoning in 2 cases, non-cardiomyopathy sudden death in 6 cases. DCM11 cases (100%), control group 2 cases (14.28%) detected varying degrees of mtDNA4977 deletion; two groups of patients mtDNA4977 deletion rates were 0.92% and 0.09%, the difference was statistically significant. CONCLUSION: Myocardial mitochondrial DNA (mtDNA4977) is missing in sudden death of DCM patients. The deletion of mtDNA4977 in myocardium is associated with sudden death of DCM.