The mutations m.5628T > C and m18348A > G in single muscle fibers of a patient with chronic progressive external ophthalmoplegia

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dc.contributor.authorGamba, Juliana [UNIFESP]
dc.contributor.authorKiyomoto, Beatriz Hitomi [UNIFESP]
dc.contributor.authorOliveira, Acary Souza Bulle [UNIFESP]
dc.contributor.authorGabbai, Alberto Alain [UNIFESP]
dc.contributor.authorSchmidt, Beny [UNIFESP]
dc.contributor.authorTengan, Celia Harumi [UNIFESP]
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.date.accessioned2016-01-24T14:27:42Z
dc.date.available2016-01-24T14:27:42Z
dc.date.issued2012-09-15
dc.description.abstractWe 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.en
dc.description.affiliationUniversidade Federal de São Paulo, Dept Neurol & Neurosurg, Escola Paulista Med, BR-04039032 São Paulo, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, Dept Pathol, Escola Paulista Med, BR-04039032 São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Neurol & Neurosurg, Escola Paulista Med, BR-04039032 São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Pathol, Escola Paulista Med, BR-04039032 São Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorshipCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
dc.format.extent131-135
dc.identifierhttp://dx.doi.org/10.1016/j.jns.2012.05.037
dc.identifier.citationJournal of the Neurological Sciences. Amsterdam: Elsevier B.V., v. 320, n. 1-2, p. 131-135, 2012.
dc.identifier.doi10.1016/j.jns.2012.05.037
dc.identifier.issn0022-510X
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/35276
dc.identifier.wosWOS:000308381600025
dc.language.isoeng
dc.publisherElsevier B.V.
dc.relation.ispartofJournal of the Neurological Sciences
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.rights.licensehttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.subjectmtDNAen
dc.subjecttRNAen
dc.subjectCPEOen
dc.subjectMitochondriaen
dc.subjectMitochondrial diseasesen
dc.subjectMutationen
dc.subjectPolymorphismen
dc.titleThe mutations m.5628T > C and m18348A > G in single muscle fibers of a patient with chronic progressive external ophthalmoplegiaen
dc.typeinfo:eu-repo/semantics/article
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