线粒体肌病和脑肌病患者骨骼肌细胞线粒体DNA缺失分析  

Analysis of mitochondrial DNA deletion in skeletal muscle cells of patients with mitochondrial myopathy and mitochondrial encephalomyopathy

作　　者：高枫[1] 陈清棠[1] 李晓东[1] 

机构地区：[1]北京医科大学第一医院神经内科

出　　处：《中风与神经疾病杂志》1998年第4期216-218,共3页Journal of Apoplexy and Nervous Diseases

基　　金：国家自然科学基金

摘　　要：目的为了检测线粒体肌病和脑肌病患者的骨骼肌细胞的线粒体ＤＮＡ的缺失情况。方法从６例原发性线粒体肌病和１例脑肌病患者的骨骼肌活检标本中，提取总ＤＮＡ，以线粒体ＤＮＡ全长为探针进行分子杂交。结果发现１例ＭＥＲＲＦ患者有５ｋｂ的线粒体ＤＮＡ基因缺失，另１例线粒体肌病患者有１５ｋｂ的线粒体ＤＮＡ基因缺失，剂量分析表明缺失型线粒体ＤＮＡ分别占总线粒体ＤＮＡ的１９．３％和１０．７％。Objective To study the mitochondrial DNA deletion of mitochondrial myopathy and mitochondrial encephalomyopathy.Methods The skeletal muscle from 7 patients with mitochondrial myopathy and encephalomyopathy were studied.By southern hybridization and using total mitochondrial DNAs as probe,we identified the changes on mitochondrial DNAs of two patients.Results A mitochondrial DNA deletion about 5kb in size was found out from a case with MERRF.In the other case with mitochondrial myopathy,a mitochondrial DNA deletion about 15kb was confirmed.The deleted mitochondrial DNAs were 19.3% and 10.7% of total mitochondrial DNA,respectively.Conclusions The mitochondrial DNA deletion is considered to be a important cause of mitochondrial disease.

关 键 词：线粒体肌病 线粒体脑肌病 线粒体DNA 骨骼肌细胞 

分 类 号：R746[医药卫生—神经病学与精神病学]