Molecular genetic and clinical aspects of mitochondrial disorders in childhood

Mitochondrion. 2007 Jul;7(4):241-52. doi: 10.1016/j.mito.2007.02.002. Epub 2007 Feb 14.


Mitochondrial OXPHOS disorders are caused by mutations in mitochondrial or nuclear genes, which directly or indirectly affect mitochondrial oxidative phosphorylation (OXPHOS). Primary mtDNA abnormalities in children are due to rearrangements (deletions or duplications) and point mutations or insertions. Mutations in the nuclear-encoded polypeptide subunits of OXPHOS result in complex I and II deficiency, whereas mutations in the nuclear proteins involved in the assembly of OXPHOS subunits cause defects in complexes I, III, IV, and V. Here, we review recent progress in the identification of mitochondrial and nuclear gene defects and the associated clinical manifestations of these disorders in childhood.

Publication types

  • Review

MeSH terms

  • Child
  • DNA, Mitochondrial / genetics
  • Humans
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Diseases / pathology*
  • Mitochondrial Diseases / physiopathology
  • Mutation / genetics
  • Nuclear Proteins / genetics
  • Protein Subunits / genetics


  • DNA, Mitochondrial
  • Nuclear Proteins
  • Protein Subunits