Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects.

TitleAssembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects.
Publication TypeJournal Article
Year of Publication2009
AuthorsFernandez-Vizarra, E, Tiranti, V, Zeviani, M
JournalBiochim Biophys Acta
Volume1793
Issue1
Pagination200-11
Date Published2009 Jan
ISSN0006-3002
KeywordsDNA, Mitochondrial, Electron Transport, Electron Transport Chain Complex Proteins, Electron Transport Complex I, Electron Transport Complex III, Electron Transport Complex IV, Humans, Mitochondrial Diseases, Models, Biological, Molecular Chaperones, Mutation, Oxidative Phosphorylation
Abstract

Assembly of the oxidative phosphorylation (OXPHOS) system in the mitochondrial inner membrane is an intricate process in which many factors must interact. The OXPHOS system is composed of four respiratory chain complexes, which are responsible for electron transport and generation of the proton gradient in the mitochondrial intermembrane space, and of the ATP synthase that uses this proton gradient to produce ATP. Mitochondrial human disorders are caused by dysfunction of the OXPHOS system, and many of them are associated with altered assembly of one or more components of the OXPHOS system. The study of assembly defects in patients has been useful in unraveling and/or gaining a complete understanding of the processes by which these large multimeric complexes are formed. We review here current knowledge of the biogenesis of OXPHOS complexes based on investigation of the corresponding disorders.

DOI10.1016/j.bbamcr.2008.05.028
Alternate JournalBiochim. Biophys. Acta
Citation Key10.1016/j.bbamcr.2008.05.028
PubMed ID18620006
Grant ListGGP07019 / / Telethon / Italy