卡恩斯-塞尔综合征患者克隆培养物中线粒体基因组的异质性。
Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome.
作者信息
Moraes C T, Schon E A, DiMauro S, Miranda A F
机构信息
Department of Genetics and Development, College of Physicians and Surgeons, Columbia University, New York 10032.
出版信息
Biochem Biophys Res Commun. 1989 Apr 28;160(2):765-71. doi: 10.1016/0006-291x(89)92499-6.
We have analyzed heteroplasmy of mitochondrial DNA in clonal cultures from two patients with Kearns-Sayre syndrome, and have found that individual muscle or fibroblast clones contained either a mixed (i.e. heteroplasmic) population of normal and deleted mitochondrial DNAs, or only normal mitochondrial DNAs (i.e. homoplasmic at a level of detection of less than 1% deleted genomes). The heteroplasmic clones grew significantly more slowly than did "homoplasmic" clones, probably due to defects of respiratory chain enzymes containing mtDNA-encoded polypeptides.
我们分析了两名患有卡恩斯-塞尔综合征患者的克隆培养物中线粒体DNA的异质性，发现单个肌肉或成纤维细胞克隆要么包含正常线粒体DNA和缺失线粒体DNA的混合（即异质性）群体，要么仅包含正常线粒体DNA（即在检测到低于1%缺失基因组的水平上为同质性）。异质性克隆的生长速度明显慢于“同质性”克隆，这可能是由于含有线粒体DNA编码多肽的呼吸链酶存在缺陷。
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