Mitochondrial DNA nucleotide changes in non-arteritic ischemic optic neuropathy.
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.
Neuro-ophthalmology Division, King Faisal Specialist Hospital, Riyadh, Saudi Arabia. tmbosley@bosleynet.net
Thomas M
TM
Bosley
Khaled K
KK
Abu-Amero
Pinar T
PT
Ozand
D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D017124:Conserved Sequence; D004272:DNA, Mitochondrial / Q000737:chemistry*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics; D018917:Optic Neuropathy, Ischemic / Q000235:genetics*; D017354:Point Mutation
D004272:DNA, Mitochondrial