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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 chan ges were more common in NAION patients (P < 0.001). Twelve of these (11 novel) were potentially pathologic, nine of which altered moderately or highly conserv ed amino acids in the functional domain of the affected protein. Mitochondrial m alfunction may be a risk factor for NAION.
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 chan ges were more common in NAION patients (P <0.001). Twelve of These (11 novel) were potentially pathologic, nine of which altered moderately or highly conserv ed amino acids in the functional domain of the affected protein. Mitochondrial m alfunction may be a risk factor for NAION.