ABSTRACT
Introduction .......................................................................... 508 Structure of F1F0 ATP Synthase......................................... 509 Mechanism of ATP Synthesis.............................................. 511 Genetic Disease and F1F0 ATP Synthase........................... 514 Mutations Affecting the a Subunit ..................................... 517 Implications for Human Complex V................................... 520 Mutations Affecting the b Subunit ..................................... 523 The Future............................................................................ 529 References............................................................................. 529
INTRODUCTION
F1F0 adenosine triphosphate (ATP) synthase (complex V) catalyzes the terminal step in oxidative phosphorylation. The carriers of the electron transport chain (complexes I to IV) establish an electrochemical gradient of protons across a membrane. The energy of ion translocation down the gradient is used by F1F0 ATP synthases in the phosphorylation of ADP. In view of the central metabolic importance of ATP, it is not surprising that members of the F1F0 ATP synthase family are almost ubiquitously distributed throughout biology. With the exceptions of a few organisms, the F1F0 ATP synthases are located in the inner mitochondrial membranes of eukaryotes and the cytoplasmic membranes of prokaryotes. In the case of plants, a second F1F0 ATP synthase is located in the thylakoid membrane to make use of the proton gradient established via the photosynthetic reaction centers.
