Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis

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dc.contributor.authorFerreiro-Barros, Claudia Cristina [UNIFESP]
dc.contributor.authorTengan, Celia Harumi [UNIFESP]
dc.contributor.authorBarros, Mario Henrique de
dc.contributor.authorPalenzuela, Lluis
dc.contributor.authorKanki, Chisaka
dc.contributor.authorQuinzii, Catarina
dc.contributor.authorLou, Johanna
dc.contributor.authorEl Gharaby, Nader
dc.contributor.authorShokr, Aly
dc.contributor.authorDe Vivo, Darryl C.
dc.contributor.authorDiMauro, Salvatore
dc.contributor.authorHirano, Michio
dc.contributor.institutionColumbia Univ
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionBugshan Gen Hosp
dc.date.accessioned2016-01-24T13:51:58Z
dc.date.available2016-01-24T13:51:58Z
dc.date.issued2008-12-15
dc.description.abstractMitochondrial diseases are clinically and genetically heterogeneous disorders due to primary mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). We studied a male infant with severe congenital encephalopathy, peripheral neuropathy, and myopathy. the patient's lactic acidosis and biochemical defects of respiratory chain complexes I, III, and IV in muscle indicated that he had a mitochondrial disorder while parental consanguinity suggested autosomal recessive inheritance. Cultured fibroblasts from the patient showed a generalized defect of mitochondrial protein synthesis. Fusion of cells from the patient with 143B206 rho(0) cells devoid of mtDNA restored cytochrome c oxidase activity confirming the nDNA origin of the disease. Our studies indicate that the patient has a novel autosomal recessive defect of mitochondrial protein synthesis. (C) 2008 Elsevier B.V. All rights reserved.en
dc.description.affiliationColumbia Univ, Med Ctr, Dept Neurol, New York, NY 10027 USA
dc.description.affiliationUniversidade Federal de São Paulo, Dept Neurol, São Paulo, Brazil
dc.description.affiliationUniv São Paulo, Dept Microbiol, São Paulo, Brazil
dc.description.affiliationBugshan Gen Hosp, Dept Pediat, Jeddah, Saudi Arabia
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Neurol, São Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipNational Institutes of Health
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorshipConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.description.sponsorshipMarriott Mitochondrial Disorders Clinical Research Fund
dc.description.sponsorshipIDNational Institutes of Health: NS11766
dc.description.sponsorshipIDNational Institutes of Health: HD32062
dc.format.extent128-132
dc.identifierhttp://dx.doi.org/10.1016/j.jns.2008.08.028
dc.identifier.citationJournal of the Neurological Sciences. Amsterdam: Elsevier B.V., v. 275, n. 1-2, p. 128-132, 2008.
dc.identifier.doi10.1016/j.jns.2008.08.028
dc.identifier.issn0022-510X
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/31098
dc.identifier.wosWOS:000261749100023
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.subjectMitochondriaen
dc.subjectProtein synthesisen
dc.subjectAutosomal recessiveen
dc.subjectMitochondrial diseaseen
dc.subjectRespiratory chainen
dc.titleNeonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesisen
dc.typeinfo:eu-repo/semantics/article
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