原发性心肌病猝死心肌mtDNA~(4977)缺失变化

目的探讨原发性心肌病(PCM)猝死者心肌线粒体DNA(m tDNA4977)缺失情况及其与猝死的关系。方法对18例PCM猝死和28例对照组病例心肌组织蜡块,用常规方法提取心肌m tDNA,以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m tDNA4977缺失率。结果PCM猝死18例中,检见13例m tDNA4977缺失,占72.44%。对照组28例中,检见3例m tDNA4977缺失,占10.71%;两组病例m tDNA4977缺失率均值分别为0.5795和0.0744,差异有非常显著性意义。结论多数PCM,特别是扩张型心肌病猝死者心肌可检见m tDNA4977缺失;提示其心肌m tDNA4977缺失变化与PCM猝死的发生可能有一定关系。

A Study on myocardial mitochondrial DNA4977 deletion in the cases of sudden death due to primary cardiomyopathy

Objective To study the myocardial mitochondrial DNA(mtDNA) deletion in the cases of sudden death due to primary cardiomyopathy(PCM) and its relationship with sudden death.Methods Myocardial mtDNA was extracted from the paraffin-embedded cardiac tissues in 18 cases of sudden death caused by PCM and 28 cases of control group autopsied in our faculty with common method and laser density of the product was detected with PCR ultraviolet ray imaging technique,and then the rates of myocardial mtDNA~(4977) deletion were tested quantitatively.Results Myocardial DNA~(4977) deletion had been detected in 13 cases(72.44%) of 18 cases of sudden death due to PCM,but only 3 cases(10.71%) of control group.The average values of myocardial mtDNA~(4977) deletion rates in two groups were 0.579 5 and 0.074 4 respectively,and the difference had statistically significance.Conclusion Myocardial mtDNA~(4977) deletion can be detected in the most cases of sudden death due to PCM,especially in the dilated cardiomyopathy and it suggests that the myocardial mtDNA~(4977) deletion has probably relation to sudden death due to PCM.