Abstract
LHON is a cause of blindness in otherwise healthy young persons, mainly men. Three mitochondrial DNA (mtDNA) mutations in the positions 11778, 3460, and 14484, are considered primary for this condition. All three lead to an amino acid change in a mitochondrial respiratory chain Complex I subunits. These mutations account for more than ninety percent of LHON cases in Caucasian and Japanese populations. The frequency of these mutations in other ethnic groups is not well studied. Approximately eighty five percent of Chilean individuals with Hispanic last names have Amerindian mtDNA haplotypes.
We studied the presence of these mutations and the mDNA haplotype by RFLP in Chilean patients with LHON.
Fifteen patients were included in the study. Three patients had the 11778 mutation, three had the 14484 mutation. None of the primary mutations was found in the remaining nine patients. All of the patients have Amerindian mtDNA haplotype. These results suggest that these two mutations have originated independently in different mtDNA haplotypes. There are probably different mtDNA mutations that explain the rest of our patients. Funded by Fondecyt 1990514.
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Fadic, R., Lobos, C., Schweitzer, M. et al. Mitochondria, DNA mutations in chilean patients with Leber Hereditary Optic Neuropathy (LHON). Genet Med 2, 104 (2000). https://doi.org/10.1097/00125817-200001000-00194
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DOI: https://doi.org/10.1097/00125817-200001000-00194