An Introduction: Oxidative Phosphorylation Diseases

ABSTRACT

Oxidative phosphorylation (OXPHOS) is responsible for producing much of the adenosine triphosphate that is required by cells. The OXPHOS pathway incorporates over 100 polypeptides whose genes are located in either the nuclear DNA or the mitochondrial DNA (mtDNA). The expression of these genes and the assembly of the five OXPHOS enzyme complexes (complexes I to V) is a highly ordered and coordinated process. A broad array of human diseases result from mutations in either the nuclear or mtDNA genes or even in the systems that coordinate their interactions. Consequently, OXPHOS diseases can have complex inheritance patterns and a wide spectrum of clinical presentations.

KEYWORD

Mitochondrial disease - oxidative phosphorylation - autosomal dominant mitochondrial disease - autosomal recessive mitochondrial disease - mitochondrial DNA mutations - mitochondrial DNA

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