Mitochondrial cytochrome c oxidase assembly in health and human diseases

Research output: Chapter in Book/Report/Conference proceedingChapter

4 Scopus citations


Deficiencies in the mitochondrial cytochrome c oxidase (COX) or complex IV, the last enzyme of the mitochondrial respiratory chain, are a frequent cause of mitochondrial diseases in human. Eukaryotic COX is a multimeric copper-heme a, a <inf>3</inf>-type oxidase, formed by three catalytic core subunits encoded in the mitochondrial genome and ten nuclear-encoded subunits that act as a protective shield of the core. The biogenesis of the catalytic core subunits, the incorporation of their metal prosthetic groups, and their assembly with imported subunits synthesized in the cytoplasm, involves a growing number of nuclear-encoded ancillary factors. Mutations in the structural subunits and in the assembly factors have been recognized over the last 15 years as important causes of human diseases. In this chapter, we review the current knowledge on human COX biogenesis and discuss the molecular basis of human COX deficiencies due to mutations in proteins involved in the COX assembly process.

Original languageEnglish (US)
Title of host publicationMitochondrial Disorders Caused by Nuclear Genes
PublisherSpringer New York
Number of pages21
ISBN (Print)9781461437222, 1461437210, 9781461437215
StatePublished - Mar 1 2014


  • Complex IV
  • Cytochrome c oxidase assembly
  • Mitochondria
  • Mitochondrial diseases

ASJC Scopus subject areas

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


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