The genetics and pathology of oxidative phosphorylation

The mitochondrial oxidative phosphorylation (OXPHOS) system is the final bi ochemical pathway in the production of ATP. The OXPHOS system consists of f ive multiprotein complexes, the individual subunits of which are encoded ei ther by the mitochondrial or by the nuclear genome. Defects in the OXPHOS s ystem result in devastating, mainly multisystem, diseases, and recent years have seen the description of the underlying genetic mutations in mitochond rial and nuclear genes. Advances in this arena have profited from progress in various genome projects, as well as improvements in our ability to creat e relevant animal models.