Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase
K Tauchmannová,
A Pecinová,
J Houštěk
et al.
Abstract:Disorders of ATP synthase, the key enzyme in mitochondrial energy supply, belong to the most severe metabolic diseases, manifesting as early-onset mitochondrial encephalo-cardiomyopathies. Since ATP synthase subunits are encoded by both mitochondrial and nuclear DNA, pathogenic variants can be found in either genome. In addition, the biogenesis of ATP synthase requires several assembly factors, some of which are also hotspots for pathogenic variants. While variants of MT-ATP6 and TMEM70 represent the most comm… Show more
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