扩张型心肌病患儿线粒体DNA缺失的研究

Study of mitochondrial DNA mutations in children with dilated cardiomiopathy

采用 PCR法检测了 15例扩张型心肌病 (DCM)、13例急性心肌炎 (病程 <3个月 )患儿和 10例正常儿童外周血淋巴细胞中线粒体 DNA(m t DNA)的缺失情况 ,以研究 mt DNA突变在 DCM发病中的作用。结果显示 ,被检者线粒体均存在 5 Kb和 7.4Kb的 mt DNA缺失 ,但 DCM患儿的缺失率显著高于心肌炎患儿和正常儿童 (缺失率分别为 7.97± 3.5 1% ,2 .5± 1.6 4%和 2 .2 8± 1.76 % ,P<0 .0 5 )。提示 mt DNA缺失与部分 DCM的发病有关。

PCR was used to detect 5Kb and 7.4Kb mitochondrial DNA(mtDNA) deletions in 15 child patients with dilated cardiomyopathy(DCM),13 cases with acute myocarditis(disease course less than 3 months) and healthy chldren in order to determine the role of mtDNA deletions in the etiology of DCM.All chilhdren detected had 5Kb and 7.4Kb mtDNA deletions,but the amount of deleted mtDNA in DCM patients were higher than those of myocarditis patients and healthy children(7.97%±3.51%,2.5%±1.64%and 2.28%±1.76%,respectively,P<0.05).The result indicate that mtDNA deletions are associated with part of DCM.