TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
Copyright policy )TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
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.
- First Faculty of Medicine, Charles University in Prague Czech Republic
- Charles University Czech Republic
- Paracelsus Medical University Austria
- Ludwig-Maximilians-Universität München Germany
- Czech Academy of Sciences Czech Republic
DNA, Complementary, Genetic Complementation Test, Infant, Newborn, Membrane Proteins, Mitochondrial Proton-Translocating ATPases, Transfection, Cell Line, Mitochondrial Proteins, Mitochondrial Encephalomyopathies, Mutation, Humans, Cloning, Molecular, Cardiomyopathies
DNA, Complementary, Genetic Complementation Test, Infant, Newborn, Membrane Proteins, Mitochondrial Proton-Translocating ATPases, Transfection, Cell Line, Mitochondrial Proteins, Mitochondrial Encephalomyopathies, Mutation, Humans, Cloning, Molecular, Cardiomyopathies
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