Abstract | PURPOSE: METHODS: Twenty-six patients who had a history of heavy alcohol and tobacco consumption and who developed bilateral optic neuropathy were tested for primary mutations (G11778A, T14484C, and G3460A) by restriction analysis, and 14 secondary mutations in the genes mitochondrially encoded NADH dehydrogenase 1 (MT-ND1), mitochondrially encoded NADH dehydrogenase 4 (MT-ND4), mitochondrially encoded NADH dehydrogenase 4L (MT-ND4L), mitochondrially encoded NADH dehydrogenase 5 (MT-ND5), mitochondrially encoded NADH dehydrogenase 6 (MT-ND6), and mitochondrially encoded cytochrome B (MT-CYB) by direct sequencing. RESULTS: Four (15.4%) of 26 patients tested positive for LHON primary mutations, two for the G11778A mutation, and two for the T14484C mutation. No patient tested positive for any of the 14 secondary mutations. Familial recurrence was present in four patients, and only three of these patients have presented the LHON mutation. CONCLUSIONS: The diagnosis of LHON should be considered in all patients diagnosed as having optic neuropathy, particularly those with familial recurrence of vision loss.
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Authors | Marcela Scabello Amaral-Fernandes, Ana Maria Marcondes, Paulo Maurício do Amor Divino Miranda, Andréa Trevas Maciel-Guerra, Edi Lúcia Sartorato |
Journal | Molecular vision
(Mol Vis)
Vol. 17
Pg. 3175-9
( 2011)
ISSN: 1090-0535 [Electronic] United States |
PMID | 22194643
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- DNA, Mitochondrial
- Isoenzymes
- NADH Dehydrogenase
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Topics |
- Adolescent
- Adult
- Alcohol Drinking
- DNA Mutational Analysis
- DNA, Mitochondrial
- Female
- Genes, Mitochondrial
- Humans
- Isoenzymes
(genetics, metabolism)
- Male
- Middle Aged
- Mitochondria
(enzymology, genetics)
- Mutation
- NADH Dehydrogenase
(genetics, metabolism)
- Optic Atrophy, Hereditary, Leber
(enzymology, genetics)
- Polymerase Chain Reaction
- Smoking
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