Nuclear genes in mitochondrial disorders

Curr Opin Genet Dev. 2003 Jun;13(3):262-70. doi: 10.1016/s0959-437x(03)00052-2.


Nuclear genes encode hundreds of proteins involved in mitochondrial biogenesis and oxidative phosphorylation (OXPHOS). Nevertheless, the identification of nuclear genes responsible for OXPHOS-related disorders has proceeded at a much slower pace, compared with the discovery and characterization of mtDNA mutations. Reasons for such a gap include rarity of syndromes, genetic heterogeneity, and ignorance on this nuclear gene repertoire in humans. This scenario is changing rapidly, thanks to the discovery of several OXPHOS-related human genes, and to the identification in some of them of disease-associated mutations. In addition, new strategies - based on transcriptome and proteome analysis, and functional complementation assays - have been applied successfully to mitochondrial medicine.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cell Nucleus / genetics*
  • Humans
  • Mitochondrial Diseases / genetics*
  • Oxidative Phosphorylation*
  • Saccharomyces cerevisiae / genetics
  • Saccharomyces cerevisiae / metabolism
  • Ubiquinone / deficiency


  • Ubiquinone