Mutations in respiratory chain complexes and human diseases

Literary evidence for a link between mutations in genes encoding respiratory chain components and human disorders is reviewed with particular emphasis on defects in respiratory complexes III and IV and their assembly factors. To date, mutations in genes encoding cytochrome band QP-C structural subunits of cytochrome bc1 complex; the BCS1L assembly factor for the bc1 complex; structural subunits I-III of cytochrome c oxidase; as well as the SURF-1, COX10, SCO1, and SCO2 assembly factors for cytochrome c oxidase, have been reported. These mutations are responsible for different neuromuscular and non-neuromuscular human diseases.