Progressive myopathy with a combined respiratory chain defect including Complex II

dc.contributorUniversidade Federal de São Paulo (UNIFESP)
dc.creatorRodrigues, Andresa De Santi [UNIFESP]
dc.creatorKiyomoto, Beatriz Hitomi [UNIFESP]
dc.creatorOliveira, Acary Souza Bulle [UNIFESP]
dc.creatorGabbai, Alberto Alain [UNIFESP]
dc.creatorSchmidt, Beny [UNIFESP]
dc.creatorTengan, Celia Harumi [UNIFESP]
dc.date.accessioned2016-01-24T13:49:29Z
dc.date.accessioned2022-10-07T21:15:48Z
dc.date.available2016-01-24T13:49:29Z
dc.date.available2022-10-07T21:15:48Z
dc.date.created2016-01-24T13:49:29Z
dc.date.issued2008-01-15
dc.identifierJournal of the Neurological Sciences. Amsterdam: Elsevier B.V., v. 264, n. 1-2, p. 182-186, 2008.
dc.identifier0022-510X
dc.identifierhttp://repositorio.unifesp.br/handle/11600/30376
dc.identifier10.1016/j.jns.2007.08.002
dc.identifierWOS:000252686200033
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/4028076
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.
dc.languageeng
dc.publisherElsevier B.V.
dc.relationJournal of the Neurological Sciences
dc.rightshttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.rightsAcesso restrito
dc.subjectmitochondria
dc.subjectsuccinate dehydrogenase
dc.subjectmitochondrial myopathies
dc.subjectrespiratory chain
dc.subjectlipid metabolism
dc.subjectmuscle
dc.subjectmyopathies
dc.titleProgressive myopathy with a combined respiratory chain defect including Complex II
dc.typeArtigo


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