Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/327292
Type: Artigo
Title: Multiplex Maldi-tof Ms Detection Of Mitochondrial Variants In Brazilian Patients With Hereditary Optic Neuropathy
Author: do Amor Divino Miranda
Paulo Mauricio; da Silva-Costa
Sueli Matilde; Balieiro
Juliane Cristina; Amaral Fernandes
Marcela Scabello; Alves
Rogerio Marins; Maciel Guerra
Andrea Trevas; Marcondes
Ana Maria; Sartorato
Edi Lucia
Abstract: Leber hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by bilateral vision loss. More than 95% of LHON cases are associated with one of the three main mtDNA mutations: G11778A, T14484C, and G3460A. The other 5% of cases are due to other rare mutations related to the disease. The aim of this study was to identify the prevalence and spectrum of LHON mtDNA mutations, including the haplogroup, in a cohort of Brazilian patients with optic neuropathy and to evaluate the usefulness of iPLEX Gold/matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS) technology in detecting LHON mutations. Methods: We analyzed a total of 101 patients; 67 had a clinical diagnosis of LHON and 34 had optic neuropathy of unknown etiology. Direct sequencing and iPLEX Gold/MALDI-TOF MS were used to screen for the most common pathogenic point mutations in LHON, together with the rare mutations G3733A, C4171A, T10663C, G14459A, C14482G, A14495G, C14568T, and C14482A. Results: We identified mutations in 36 patients, of whom 83.3% carried the G11778A mutation and 16.7% carried the T14484C mutation. In individuals with mutations, the haplogroups found were L1/L2, L3, C, R, U, D, and H. Rare mutations were not detected in any of the patients analyzed. Conclusions: The frequencies of the main LHON mutations were similar to those previously reported for Latin America. A different frequency was found only for the A3460G mutation. The most frequent haplogroups identified were of African origin. The iPLEX Gold/MALDI-TOF MS technology proved to be highly accurate and efficient for screening mutations and identifying the haplogroups related to LHON. The MassArray platform, combined with other techniques, enabled definitive diagnosis of LHON in 36% (36/101) of the cases studied.
Subject: Han Chinese Subjects
Dna Mutation
Mtdna Mutations
Clinical-features
Nd6 Gene
Expression
Pedigrees
Families
Identification
Populations
Editor: Molecular Vision
Atlanta
Rights: fechado
Address: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4982480/
Date Issue: 2016
Appears in Collections:Unicamp - Artigos e Outros Documentos

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