Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology.

TitleAssembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology.
Publication TypeJournal Article
Year of Publication2012
AuthorsGhezzi, D, Zeviani, M
JournalAdv Exp Med Biol
Volume748
Pagination65-106
Date Published2012
ISSN0065-2598
KeywordsElectron Transport, Electron Transport Complex I, Electron Transport Complex II, Electron Transport Complex III, Electron Transport Complex IV, Humans, Multienzyme Complexes, Oxidative Phosphorylation
Abstract

Mitochondrial disorders are clinical syndromes associated with -abnormalities of the oxidative phosphorylation (OXPHOS) system, the main responsible for the production of energy in the cell. OXPHOS is carried out in the inner mitochondrial membrane by the five enzymatic complexes of the mitochondrial respiratory chain (MRC). The subunits constituting these multimeric complexes have a dual genetic origin, mitochondrial or nuclear. Hence, mitochondrial syndromes can be due to mutations of mitochondrial DNA or to abnormalities in nuclear genes. The biogenesis of the MRC complexes is an intricate and finely tuned process. The recent discovery of several OXPHOS-related human genes, mutated in different clinical syndromes, indicates that the majority of the inherited mitochondrial disorders are due to nuclear genes, and many of them encode proteins necessary for the proper assembly/stability of the MRC complexes. The detailed mechanisms of these processes are not fully understood and the exact function of many such factors remains obscure.We present an overview on the hypothesized assembly processes of the different MRC complexes, focusing on known assembly factors and their clinical importance.

DOI10.1007/978-1-4614-3573-0_4
Alternate JournalAdv. Exp. Med. Biol.
Citation Key10.1007/978-1-4614-3573-0_4
PubMed ID22729855