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TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.

Abstract：

: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.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Cízková A,Stránecký V,Mayr JA,Tesarová M,Havlícková V,Paul J,Ivánek R,Kuss AW,Hansíková H,Kaplanová V,Vrbacký M,Hartmannová H,Nosková L,Honzík T,Drahota Z,Magner M,Hejzlarová K,Sperl W,Zeman J,Houstek J,Kmoch S

doi

10.1038/ng.246

subject

Has Abstract

pub_date

2008-11-01 00:00:00

pages

1288-90

issue

11

eissn

1061-4036

issn

1546-1718

pii

ng.246

journal_volume

40

pub_type

杂志文章

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