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Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy
PURPOSE: There are many similarities in the clinical presentation of Leber hereditary optic neuropathy (LHON) and in patients who have optic neuropathy and a history of heavy tobacco and alcohol consumption. The main objective of this study is to investigate the frequency of primary and secondary mi...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Molecular Vision
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244475/ https://www.ncbi.nlm.nih.gov/pubmed/22194643 |
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author | Amaral-Fernandes, Marcela Scabello Marcondes, Ana Maria Miranda, Paulo Maurício do Amor Divino Maciel-Guerra, Andréa Trevas Sartorato, Edi Lúcia |
author_facet | Amaral-Fernandes, Marcela Scabello Marcondes, Ana Maria Miranda, Paulo Maurício do Amor Divino Maciel-Guerra, Andréa Trevas Sartorato, Edi Lúcia |
author_sort | Amaral-Fernandes, Marcela Scabello |
collection | PubMed |
description | PURPOSE: There are many similarities in the clinical presentation of Leber hereditary optic neuropathy (LHON) and in patients who have optic neuropathy and a history of heavy tobacco and alcohol consumption. The main objective of this study is to investigate the frequency of primary and secondary mitochondrial DNA (mtDNA) mutations for LHON in patients diagnosed as having alcohol and tobacco optic neuropathy (ATON). 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. |
format | Online Article Text |
id | pubmed-3244475 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Molecular Vision |
record_format | MEDLINE/PubMed |
spelling | pubmed-32444752011-12-22 Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy Amaral-Fernandes, Marcela Scabello Marcondes, Ana Maria Miranda, Paulo Maurício do Amor Divino Maciel-Guerra, Andréa Trevas Sartorato, Edi Lúcia Mol Vis Research Article PURPOSE: There are many similarities in the clinical presentation of Leber hereditary optic neuropathy (LHON) and in patients who have optic neuropathy and a history of heavy tobacco and alcohol consumption. The main objective of this study is to investigate the frequency of primary and secondary mitochondrial DNA (mtDNA) mutations for LHON in patients diagnosed as having alcohol and tobacco optic neuropathy (ATON). 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. Molecular Vision 2011-12-07 /pmc/articles/PMC3244475/ /pubmed/22194643 Text en Copyright © 2011 Molecular Vision. http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Amaral-Fernandes, Marcela Scabello Marcondes, Ana Maria Miranda, Paulo Maurício do Amor Divino Maciel-Guerra, Andréa Trevas Sartorato, Edi Lúcia Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy |
title | Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy |
title_full | Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy |
title_fullStr | Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy |
title_full_unstemmed | Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy |
title_short | Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy |
title_sort | mutations for leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244475/ https://www.ncbi.nlm.nih.gov/pubmed/22194643 |
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