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.
Publication types
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Cardiomyopathies / complications
-
Cardiomyopathies / enzymology*
-
Cardiomyopathies / genetics*
-
Cell Line
-
Cloning, Molecular
-
DNA, Complementary / genetics
-
Genetic Complementation Test
-
Humans
-
Infant, Newborn
-
Membrane Proteins / genetics*
-
Mitochondrial Encephalomyopathies / complications
-
Mitochondrial Encephalomyopathies / enzymology*
-
Mitochondrial Encephalomyopathies / genetics*
-
Mitochondrial Proteins / genetics*
-
Mitochondrial Proton-Translocating ATPases / deficiency*
-
Mutation / genetics*
-
Transfection
Substances
-
DNA, Complementary
-
Membrane Proteins
-
Mitochondrial Proteins
-
TMEM70 protein, human
-
Mitochondrial Proton-Translocating ATPases