Cytochrome c oxidase deficiency: Patients and animal models

Research output: Contribution to journalReview article

78 Scopus citations

Abstract

Cytochrome c oxidase (COX) deficiencies are one of the most common defects of the respiratory chain found in mitochondrial diseases. COX is a multimeric inner mitochondrial membrane enzyme formed by subunits encoded by both the nuclear and the mitochondrial genome. COX biosynthesis requires numerous assembly factors that do not form part of the final complex but participate in prosthetic group synthesis and metal delivery in addition to membrane insertion and maturation of COX subunits. Human diseases associated with COX deficiency including encephalomyopathies, Leigh syndrome, hypertrophic cardiomyopathies, and fatal lactic acidosis are caused by mutations in COX subunits or assembly factors. In the last decade, numerous animal models have been created to understand the pathophysiology of COX deficiencies and the function of assembly factors. These animal models, ranging from invertebrates to mammals, in most cases mimic the pathological features of the human diseases.

Original languageEnglish (US)
Pages (from-to)100-110
Number of pages11
JournalBiochimica et Biophysica Acta - Molecular Basis of Disease
Volume1802
Issue number1
DOIs
StatePublished - Jan 1 2010

Keywords

  • Animal models
  • Complex IV
  • Cytochrome c oxidase
  • Mitochondrial diseases
  • Oxidative phosphorylation

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine

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