跨膜蛋白70（TMEM70）突变导致孤立性ATP合酶缺乏症和新生儿线粒体脑心肌病。
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
作者信息
Cízková Alena, Stránecký Viktor, Mayr Johannes A, Tesarová Markéta, Havlícková Vendula, Paul Jan, Ivánek Robert, Kuss Andreas W, Hansíková Hana, Kaplanová Vilma, Vrbacký Marek, Hartmannová Hana, Nosková Lenka, Honzík Tomás, Drahota Zdenek, Magner Martin, Hejzlarová Katerina, Sperl Wolfgang, Zeman Jirí, Houstek Josef, Kmoch Stanislav
机构信息
Institute of Inherited Metabolic Disorders, Charles University of Prague, First Faculty of Medicine, Prague 12808, Czech Republic.
出版信息
Nat Genet. 2008 Nov;40(11):1288-90. doi: 10.1038/ng.246. Epub 2008 Oct 26.
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.
我们对患有孤立性线粒体ATP合酶缺乏症的个体进行了全基因组纯合性图谱分析、基因表达分析和DNA测序，并在TMEM70中鉴定出致病突变。用野生型TMEM70对这些个体的细胞系进行互补，恢复了酶复合物的生物合成和代谢功能。我们的结果表明，TMEM70参与高等真核生物中线粒体ATP合酶的生物合成。
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