Please use this identifier to cite or link to this item: https://repositorio.unifesp.br/handle/11600/35276
Title: The mutations m.5628T > C and m18348A > G in single muscle fibers of a patient with chronic progressive external ophthalmoplegia
Authors: Gamba, Juliana [UNIFESP]
Kiyomoto, Beatriz Hitomi [UNIFESP]
Oliveira, Acary Souza Bulle [UNIFESP]
Gabbai, Alberto Alain [UNIFESP]
Schmidt, Beny [UNIFESP]
Tengan, Celia Harumi [UNIFESP]
Universidade Federal de São Paulo (UNIFESP)
Keywords: mtDNA
tRNA
CPEO
Mitochondria
Mitochondrial diseases
Mutation
Polymorphism
Issue Date: 15-Sep-2012
Publisher: Elsevier B.V.
Citation: Journal of the Neurological Sciences. Amsterdam: Elsevier B.V., v. 320, n. 1-2, p. 131-135, 2012.
Abstract: We identified a double mutation in a patient with chronic progressive external ophthalmoplegia, located in the tRNA(Ala) (m.5628T > C) and tRNA(LYs) (m.8348A > G) genes. Both mutations were previously described separately and considered pathogenic, however the same mutations were also reported as polymorphisms or phenotype modulator. We analyzed the proportion of each mutation in isolated muscle fibers by single fiber-polymerase chain reaction to investigate the contribution of each mutation to mitochondrial deficiency. Our findings demonstrated that the mutations were heteroplasmic in skeletal muscle and both mutations were present in all single muscle fibers. the proportions of the m.5628T > C mutation were not significantly different between normal and cytochrome-c-oxidase (COX) deficient fibers. However, a significant higher proportion of the m.8348A > G mutation was observed in COX deficient fibers. Homoplasmic m.8348A > G was only observed in COX negative fibers. in conclusion, we provide a piece of evidence toward the pathogenicity of the m.8348A > G mutation and suggest that m.5628T > C is probably a neutral polymorphism. (c) 2012 Elsevier B.V. All rights reserved.
URI: http://repositorio.unifesp.br/handle/11600/35276
ISSN: 0022-510X
Other Identifiers: http://dx.doi.org/10.1016/j.jns.2012.05.037
Appears in Collections:Em verificação - Geral

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