Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: an example of phenotypic mimicry?
Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: an example of phenotypic mimicry?
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患有卡恩斯-塞尔综合征和洛伊综合征的女孩的线粒体 DNA 缺失：表型拟态的一个例子？
DOI：
10.1002/ajmg.1320410308
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发表时间：
1991
期刊：
影响因子：
--
通讯作者：
DiMauro,S
中科院分区：
文献类型：
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作者：
Moraes,CT;Zeviani,M;Schon,EA;Hickman,RO;Vlcek,BW;DiMauro,S
Lowe眼脑肾综合征是一种X连锁隐性遗传病，其基因定位于Xp25。然而，一些关于没有明显染色体异常的受影响女性的报告表明LOWE表型的遗传异质性。虽然典型Lowe综合征的生化缺陷尚不清楚，但有证据表明线粒体代谢可能受损。我们研究了一名女孩，她出现了眼脑肾综合征，但后来出现了线粒体脑肌病的症状和体征。肌肉线粒体DNA的分子遗传学分析表明，存在一个部分缺失的线粒体DNA群体(异质性)。该片段全长7803个碱基，包含几个编码呼吸链酶亚基的基因。我们的结果表明，线粒体DNA缺失可能与LOWE表型的几个症状相似，并强化了线粒体代谢缺陷可能参与X连锁疾病发病机制的概念。
Lowe oculocerebrorenal syndrome is an X‐linked recessive disease whose locus has been assigned to Xp25. However, several reports of affected females without obvious chromosomal abnormalities suggest genetic heterogeneity of the Lowe phenotype. Although the biochemical defect in typical Lowe syndrome is not known, there is evidence suggesting that mitochondrial metabolism may be impaired. We have studied a girl who presented with an oculocerebrorenal syndrome, but later developed symptoms and signs of mitochondrial encephalomyopathy. Molecular genetic analysis of muscle mitochondrial DNA showed the presence of a population of partially deleted mtDNAs (heteroplasmy). The deletion was 7803 bp long and encompassed several genes encoding subunits of the respiratory chain enzymes. Our results suggest that mitochondrial DNA deletions may mimic several symptoms of the Lowe phenotype and reinforce the concept that a defect of mitochondrial metabolism could be involved in the pathogenesis of the X‐linked disease.