Progressive myopathy with a combined respiratory chain defect including Complex II

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dc.contributor.authorRodrigues, Andresa De Santi [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.accessioned2016-01-24T13:49:29Z
dc.date.available2016-01-24T13:49:29Z
dc.date.issued2008-01-15
dc.description.abstractBiochemical defects in the respiratory chain are mostly associated with deficiencies in Complexes I, III and IV, caused by nuclear or mitochondrial DNA mutations. Combined defects including Complex II have been reported very rarely and have muscular symptoms as the main manifestation, including muscle weakness, exercise intolerance and myoglobinuria. We report a patient with a fatal progressive myopathy and muscle biopsy showing diffuse reduction in succinate dehydrogenase activity, ragged red fibers and intense lipid accumulation. Cytochrome c oxidase (COX) histochemistry demonstrated 30% of fibers with increased subsarcolemmal staining while 27% were COX negative. Western blotting analysis showed reduction in the expression of the 39 kDa subunit of Complex I, subunit II of Complex IV and the 70 kDa subunit of Complex II. Our findings suggest that the patient had a complex pattern of mitochondrial dysfunction affecting multiple respiratory chain complexes (I, II and IV) and fatty acid metabolism. This report adds a new histological pattern associated to combined deficiencies of respiratory chain with involvement of Complex II and shows that this disease may be fatal with a rapid progression. (c) 2007 Elsevier B.V. All rights reserved.en
dc.description.affiliationUniversidade Federal de São Paulo, Escola Paulista Med, Clin Neurol Div,Lab Neurol Mol, Dept Neurol & Neurosurg, BR-04039032 São Paulo, SP, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, Escola Paulista Med, Dept Pathol, BR-04039032 São Paulo, SP, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Escola Paulista Med, Clin Neurol Div,Lab Neurol Mol, Dept Neurol & Neurosurg, BR-04039032 São Paulo, SP, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Escola Paulista Med, Dept Pathol, BR-04039032 São Paulo, SP, Brazil
dc.description.sourceWeb of Science
dc.format.extent182-186
dc.identifierhttp://dx.doi.org/10.1016/j.jns.2007.08.002
dc.identifier.citationJournal of the Neurological Sciences. Amsterdam: Elsevier B.V., v. 264, n. 1-2, p. 182-186, 2008.
dc.identifier.doi10.1016/j.jns.2007.08.002
dc.identifier.issn0022-510X
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/30376
dc.identifier.wosWOS:000252686200033
dc.language.isoeng
dc.publisherElsevier B.V.
dc.relation.ispartofJournal of the Neurological Sciences
dc.rightsAcesso restrito
dc.rights.licensehttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.subjectmitochondriaen
dc.subjectsuccinate dehydrogenaseen
dc.subjectmitochondrial myopathiesen
dc.subjectrespiratory chainen
dc.subjectlipid metabolismen
dc.subjectmuscleen
dc.subjectmyopathiesen
dc.titleProgressive myopathy with a combined respiratory chain defect including Complex IIen
dc.typeArtigo
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