TMEM70 protein — A novel ancillary factor of mammalian ATP synthase |
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Authors: | Josef Hou&scaron těk,Stanislav Kmoch |
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Affiliation: | a Department of Bioenergetics, Institute of Physiology, Academy of Sciences of the Czech Republic, Vídeňská 1083, 142 20 Prague 4-Kr?, Czech Republic b Institute of Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University, Czech Republic c Department of Pediatrics, 1st Faculty of Medicine, Charles University, Prague, Czech Republic |
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Abstract: | An increasing number of patients with nuclear genetic defects of mitochondrial ATP synthase have been identified in recent years. They are characterized by early onset, lactic acidosis, 3-methylglutaconic aciduria, hypertrophic cardiomyopathy and encephalopathy and most cases have a fatal outcome. Patient tissues show isolated defect of the ATP synthase complex and its content decreases to ≥ 30% of normal due to altered enzyme biosynthesis and assembly. Gene mapping and complementation studies have identified mutations in TMEM70 gene encoding a 30kD mitochondrial protein of unknown function as the cause of the disease. An altered synthesis of this new ancillary factor in ATP synthase biogenesis was found in most of the known patients with decreased ATP synthase content. As revealed by phylogenetic analysis, TMEM70 is specific for higher eukaryotes. |
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Keywords: | ATP synthase, FOF1-ATP synthase F1-catalytic part of ATP synthase, FO-membrane sector part of ATP synthase COX, cytochrome c oxidase mtDNA, mitochondrial DNA OXPHOS, oxidative phosphorylation ROS, reactive oxygen species |
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