Assembly factors of human mitochondrial respiratory chain complexes: Physiology and pathophysiology

Daniele Ghezzi, Massimo Zeviani

Research output: Chapter in Book/Report/Conference proceedingChapter


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.

Original languageEnglish
Title of host publicationAdvances in Experimental Medicine and Biology
Number of pages42
Publication statusPublished - 2012

Publication series

NameAdvances in Experimental Medicine and Biology
ISSN (Print)00652598

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)


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