Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/199719
Type: Artigo de periódico
Title: Mutations For Leber Hereditary Optic Neuropathy In Patients With Alcohol And Tobacco Optic Neuropathy.
Author: Amaral-Fernandes, Marcela Scabello
Marcondes, Ana Maria
Miranda, Paulo Maurício do Amor Divino
Maciel-Guerra, Andréa Trevas
Sartorato, Edi Lúcia
Abstract: 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). 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. 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. The diagnosis of LHON should be considered in all patients diagnosed as having optic neuropathy, particularly those with familial recurrence of vision loss.
Subject: Adolescent
Adult
Alcohol Drinking
Dna Mutational Analysis
Dna, Mitochondrial
Female
Genes, Mitochondrial
Humans
Isoenzymes
Male
Middle Aged
Mitochondria
Mutation
Nadh Dehydrogenase
Optic Atrophy, Hereditary, Leber
Polymerase Chain Reaction
Smoking
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/22194643
Date Issue: 2011
Appears in Collections:Unicamp - Artigos e Outros Documentos

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