Mitochondrial DNA nucleotide changes in non-arteritic ischemic optic neuropathy

Thomas M. Bosley, Khaled K. Abu-Amero, Pinar T. Ozand

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1305-1308
Number of pages4
JournalNeurology
Volume63
Issue number7
DOIs
StatePublished - Oct 12 2004
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology

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