TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
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DOI：
10.1038/ng.246
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发表时间：
2008-11-01
期刊：
影响因子：
30.8
通讯作者：
Kmoch, Stanislav
中科院分区：
文献类型：
--
作者：
Cizkova, Alena;Stranecky, Viktor;Kmoch, Stanislav
我们对分离的线粒体ATP合酶缺乏症患者进行了全基因组纯合性图谱、基因表达分析和DNA测序，并发现了TMEM70的致病突变。这些人的细胞系与野生型TMEM70互补，恢复了酶复合体的生物发生和代谢功能。我们的结果表明，TMEM70参与了高等真核生物线粒体ATP合成酶的生物发生。
We carried out whole-genome homozygosity mapping, gene expression analysis and DNA sequencing in individuals with isolated mitochondrial ATP synthase deficiency and identified disease-causing mutations in TMEM70. Complementation of the cell lines of these individuals with wild-type TMEM70 restored biogenesis and metabolic function of the enzyme complex. Our results show that TMEM70 is involved in mitochondrial ATP synthase biogenesis in higher eukaryotes.