AUTHOR=Dautant Alain , Meier Thomas , Hahn Alexander , Tribouillard-Tanvier Déborah , di Rago Jean-Paul , Kucharczyk Roza 

TITLE=ATP Synthase Diseases of Mitochondrial Genetic Origin

JOURNAL=Frontiers in Physiology

VOLUME=9

YEAR=2018

URL=https://www.frontiersin.org/journals/physiology/articles/10.3389/fphys.2018.00329

DOI=10.3389/fphys.2018.00329

ISSN=1664-042X

ABSTRACT=<p>Devastating human neuromuscular disorders have been associated to defects in the ATP synthase. This enzyme is found in the inner mitochondrial membrane and catalyzes the last step in oxidative phosphorylation, which provides aerobic eukaryotes with ATP. With the advent of structures of complete ATP synthases, and the availability of genetically approachable systems such as the yeast <italic>Saccharomyces cerevisiae</italic>, we can begin to understand these molecular machines and their associated defects at the molecular level. In this review, we describe what is known about the clinical syndromes induced by 58 different mutations found in the mitochondrial genes encoding membrane subunits <italic>8</italic> and <italic>a</italic> of ATP synthase, and evaluate their functional consequences with respect to recently described cryo-EM structures.</p>