The genetics and pathology of oxidative phosphorylation

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J Smeitink1, L van den Heuvel, S DiMauro

  • 1Nijmegen Centre for Mitochondrial Disorders, Department of Paediatrics, University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands. j.smeitink@ckskg.azn.nl

Nature Reviews. Genetics
|May 2, 2001
PubMed

Insights

Mitochondrial oxidative phosphorylation (OXPHOS) defects cause severe diseases due to genetic mutations. Advances in genome projects and animal models aid in understanding these complex genetic disorders.

Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • The mitochondrial oxidative phosphorylation (OXPHOS) system generates ATP through five multiprotein complexes.
  • Subunits of OXPHOS complexes are encoded by both mitochondrial and nuclear genomes.
  • OXPHOS dysfunction leads to severe, often multisystem, diseases.

Purpose of the Study:

  • To review recent advances in understanding genetic mutations causing OXPHOS diseases.
  • To highlight the role of genome projects and animal models in this research.

Main Methods:

  • Literature review of genetic studies on OXPHOS disorders.
  • Analysis of progress in genome sequencing and functional genomics.
  • Examination of the utility of animal models in disease research.

Main Results:

  • Numerous genetic mutations in mitochondrial and nuclear genes underlying OXPHOS defects have been identified.
  • Genome projects have accelerated the discovery of disease-causing mutations.
  • Development of relevant animal models has improved the study of OXPHOS disease pathogenesis.

Conclusions:

  • Understanding the genetic basis of OXPHOS diseases is rapidly advancing.
  • Technological progress, particularly in genomics and model systems, is crucial for future discoveries in mitochondrial medicine.

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