TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

被引：158

作者：

Cizkova, Alena ^{[1
,2
]}

Stranecky, Viktor ^{[2
]}

Mayr, Johannes A. ^{[3
]}

Tesarova, Marketa ^{[4
]}

Havlickova, Vendula ^{[1
]}

Paul, Jan ^{[1
]}

Ivanek, Robert ^{[2
]}

Kuss, Andreas W. ^{[5
]}

Hansikova, Hana ^{[4
]}

Kaplanova, Vilma ^{[1
]}

Vrbacky, Marek ^{[1
]}

Hartmannova, Hana ^{[2
]}

Noskova, Lenka ^{[2
]}

Honzik, Tomas ^{[4
]}

Drahota, Zdenek ^{[1
]}

Magner, Martin ^{[4
]}

Hejzlarova, Katerina ^{[1
]}

Sperl, Wolfgang ^{[3
]}

Zeman, Jiri ^{[4
]}

Houstek, Josef ^{[1
]}

Kmoch, Stanislav ^{[2
]}

机构：

[1] Acad Sci Czech Republ, Inst Physiol, Dept Bioenerget, CR-14220 Prague, Czech Republic

[2] Charles Univ Prague, Fac Med 1, Inst Inherited Metab Disorders, Prague 12808, Czech Republic

[3] Paracelsus Med Univ, Dept Pediat, A-5020 Salzburg, Austria

[4] Charles Univ Prague, Fac Med 1, Dept Pediat, Prague 12808, Czech Republic

[5] Max Planck Inst Mol Genet, D-14195 Berlin, Germany

来源：

NATURE GENETICS | 2008年 / 40卷 / 11期

关键词：

D O I：

10.1038/ng.246

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：1288 / 1290

页数：3

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