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Type: Artigo de periódico
Title: Leber's Hereditary Optic Neuropathy: Clinical And Molecular Profile Of A Brazilian Sample.
Author: Maciel-Guerra, Andréa Trevas
Zanchetta, Luciene Maria
Amaral Fernandes, Marcela Scabello
Andrade, Paula Baloni
do Amor Divino Miranda, Paulo Maurício
Sartorato, Edi Lúcia
Abstract: The aim of this study was to describe clinical features and search for primary mitochondrial DNA (mtDNA) mutations in 13 unrelated Brazilian patients with Leber's hereditary optic neuropathy (LHON). Analysis of the G11778A, G3460A, and T14484C mutations was done by polymerase chain reaction and restriction fragment length polymorphism, and mutations were confirmed by direct sequencing. Mean age of onset was 24.5 years and all cases were bilateral. Sex ratio (12M:1F) and frequency of simultaneous involvement (9/13) were higher than in other studies. In nine cases there was familial recurrence: 24 male and two female relatives. Ten patients had a mutation: G11778A in six, T14484C in three and one G3460A. The frequency of patients bearing a primary mutation was lower than that described in multicentric studies but similar to that observed among Asians. A higher frequency of the T14484C mutation was detected. The contribution of Amerindians and Africans to the Brazilian mtDNA pool may account for differences in the type and frequency of primary LHON mutations.
Subject: Adolescent
Age Of Onset
Dna, Mitochondrial
Middle Aged
Optic Atrophy, Hereditary, Leber
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Sex Ratio
Young Adult
Citation: Ophthalmic Genetics. v. 31, n. 3, p. 126-8, 2010-Sep.
Rights: fechado
Identifier DOI: 10.3109/13816810.2010.483721
Date Issue: 2010
Appears in Collections:Unicamp - Artigos e Outros Documentos

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