Leber's hereditary optic neuropathy: Clinical and molecular profile of a Brazilian sample

Autor(es)

Maciel-Guerra, Andrea Trevas ^[1] ; Zanchetta, Luciene Maria ^[1] ; Amaral Fernandes, Marcela Scabello ^[2] ; Andrade, Paula Baloni ^[3] ; do Amor Divino Miranda, Paulo Mauricio ^[3] ; Sartorato, Edi Lucia ^[3]

Afiliação do(s) autor(es)

^[1] Univ Estadual Campinas, Dept Med Genet, Fac Ciencias Med, Sao Paulo - Brazil

^[2] Univ Estadual Campinas, Dept Oftalmol & Otorrinolaringol, Fac Ciencias Med, Sao Paulo - Brazil

^[3] Univ Estadual Campinas, Ctr Biol Mol & Engn Genet, Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: OPHTHALMIC GENETICS; v. 31, n. 3, p. 126-128, SEP 2010.
• Citações Web of Science: 4

Resumo

Purpose: 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). Methods: 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. Results: 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. Conclusions: The contribution of Amerindians and Africans to the Brazilian mtDNA pool may account for differences in the type and frequency of primary LHON mutations. (AU)

• Processo FAPESP: 04/16074-4 - Estudo molecular da neuropatia optica hereditaria de leber em familias brasileiras.
• Beneficiário: Andrea Trevas Maciel Guerra
• Modalidade de apoio: Auxílio à Pesquisa - Regular