线粒体脑肌病患者线粒体DNA突变分析

目的：分析线粒体脑肌病患者骨骼肌细胞线粒体DNA的突变情况,为疾病诊断提供依据.方法：用常规苏木精-伊红（H-E）、酶组织化学染色和电镜检查等方法对线粒体脑肌病进行诊断,用聚合酶链反应（PCR）/限制性内切酶酶切方法对线粒体脑肌病伴高乳酸血症和卒中样发作综合征（MELAS）和肌阵挛性癫痫伴肌红纤维断裂综合征（MERRF）的患者进行线粒体基因分析.结果：3例患者均被确诊为线粒体脑肌病,其中例1和例2 tRNA^leu基因发生A3243G杂合突变,例3发生A8344G杂合突变.结论：线粒体DNA中的tRNA基因突变,是线粒体脑肌病的重要病因之一.

Mitochondrial DNA mutation analysis in patients with mitochondrial encephalomyopathy

Objective:To examine mitochondrial DNA mutations in mitochondrial encephalomyopathy.Methods:Three cases of mitochondrial encephalomyopathy were examined by HE staining,histochemical staining methods and electron microscopy.The mutations in mitochondrial genome were studied by polymerase chain reaction /restriction enzyme digestion. Results: The three cases were diagnosed as mitochondrial encephalomyopathy.The examinations revealed that patient 1 and 2 had a heteroplasmic A3243G mutation in tRNA~(leu) gene,and patient 3 had a heteroplasmic A8344G mutation in tRNA~(lys) gene.Conclusion:tRNA gene mutations of mtDNA might be one of the etiologies of mitochondrial encephalomyopathy.