A TANDEM DUPLICATION IN THE D-LOOP OF HUMAN MITOCHONDRIAL-DNA IS ASSOCIATED WITH DELETIONS IN MITOCHONDRIAL MYOPATHIES
A TANDEM DUPLICATION IN THE D-LOOP OF HUMAN MITOCHONDRIAL-DNA IS ASSOCIATED WITH DELETIONS IN MITOCHONDRIAL MYOPATHIES
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DOI：
10.1038/ng0593-67
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发表时间：
1993-05-01
期刊：
影响因子：
30.8
通讯作者：
HARDING, AE
中科院分区：
文献类型：
--
作者：
BROCKINGTON, M;SWEENEY, MG;HARDING, AE
大约40%的线粒体肌病患者在肌肉中有两个线粒体DNA（mtDNA）群体，其中一个缺失。所有单个mtDNA缺失和神经系统疾病的患者都是散发病例，这表明缺失是作为新的突变事件出现的。我们在58例缺失患者中的18例及其母亲中的5/5中检测到涉及mtDNA置换环的低丰度异质串联重复，而在正常人中未检测到。重复的位置控制线粒体DNA的复制和转录的区域可以解释的功能，表明轻度线粒体功能障碍的肌肉活检的三名患者的母亲，和倾向于删除。
About 40 per cent of patients with mitochondrial myopathies have two populations of mitochondrial DNA (mtDNA) in muscle, one of which is deleted. All patients with single mtDNA deletions and neurological disease are sporadic cases, suggesting that deletions arise as fresh mutational events. We have detected a low abundance heteroplasmic tandem duplication involving the displacement loop of mtDNA in 18 of 58 patients with deletions and 5/5 of their mothers, but not in normal subjects. The location of the duplication to a region that controls both replication and transcription of mtDNA could explain features suggesting mild mitochondrial dysfunction in the muscle biopsies of three patients' mothers, and a predisposition to deletion.