The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines

Hum Mutat. 2002 Mar;19(3):234-9. doi: 10.1002/humu.10050.


Transmitochondrial cybrid cell lines homoplasmic for the A8296G mtDNA transition, a mutation associated with several mitochondrial diseases, have a normal oxidative phosphorylation function, as shown by oxygen consumption, lactate production, respiratory enzyme activities, and growth using galactose as the only source of energy. The synthesis of mitochondrial proteins is also similar in mutant and wild-type cybrids. Our results suggest that the A8296G mutation is a polymorphism and reinforce the necessity of performing functional studies to assess the pathogenicity of mtDNA mutations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenine*
  • Cell Fusion
  • Cell Line
  • DNA, Mitochondrial / genetics*
  • Female
  • Fibroblasts / metabolism
  • Fibroblasts / pathology
  • Guanine*
  • Humans
  • Hybrid Cells
  • MERRF Syndrome / genetics
  • Male
  • Mitochondria / genetics*
  • Mitochondria / physiology*
  • Mitochondrial Diseases / genetics*
  • Mutation / genetics*


  • DNA, Mitochondrial
  • Guanine
  • Adenine