Mitochondrial DNA nucleotide changes in non-arteritic ischemic optic neuropathy

Neurology. 2004 Oct 12;63(7):1305-8. doi: 10.1212/01.wnl.0000140696.34117.95.


The authors sequenced the entire mitochondrial DNA coding region in a group of 19 patients with non-arteritic anterior ischemic optic neuropathy (NAION) and in 100 controls. Synonymous and nonsynonymous nucleotide changes were more common in NAION patients (p < 0.001). Twelve of these (11 novel) were potentially pathologic, nine of which altered moderately or highly conserved amino acids in the functional domain of the affected protein. Mitochondrial malfunction may be a risk factor for NAION.

MeSH terms

  • Adult
  • Aged
  • Amino Acid Sequence
  • Conserved Sequence
  • DNA, Mitochondrial / chemistry*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Optic Atrophy, Hereditary, Leber / genetics
  • Optic Neuropathy, Ischemic / genetics*
  • Point Mutation


  • DNA, Mitochondrial