线粒体DNA缺失与心肌病

Mitochondrial DNA deletion and cardiomyopathy

研究线粒体ＤＮＡ（ｍｔＤＮＡ）缺失与心肌病发生的关系。方法用大片段ＤＮＡ体外扩增技术，扩增心肌病患者心肌、骨骼肌血液标本的ｍｔＤＮＡ，并与冠心病患者、正常人的标本对照。结果在１例肥厚型心肌病（ＨＣＭ）患者心肌中发现ｍｔＤＮＡ缺失，缺失片段长度为４００个碱基对（４００ｂｐ），心肌中缺失ｍｔＤＮＡ的相对含量超过５０％。结论ｍｔＤＮＡ缺失可能是心肌病发病的一个重要病因。

Objective To explore the possible role of mitochondrial DNA deletion in the development of cardiomyopathy. Methods Deletions of mtDNA from patients with dilated or hypertrophic cardiomyopathy (HCM) were analysed using the polymerase chain reaction and the results were compared to those from patients with coronary heart disease and normal subjects. Results a 400 bp deletion was found in a patient with HCM.The percentage of deleted mtDNA was found to be over 50%. Conclusion mtDNA deletion might be one of important contributory factors to the genesis of some forms of cardiomyopathy.