Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis

Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis

Autor Ferreiro-Barros, Claudia Cristina Autor UNIFESP Google Scholar
Tengan, Celia Harumi Autor UNIFESP Google Scholar
Barros, Mario Henrique de Google Scholar
Palenzuela, Lluis Google Scholar
Kanki, Chisaka Google Scholar
Quinzii, Catarina Google Scholar
Lou, Johanna Google Scholar
El Gharaby, Nader Google Scholar
Shokr, Aly Google Scholar
De Vivo, Darryl C. Google Scholar
DiMauro, Salvatore Google Scholar
Hirano, Michio Google Scholar
Instituição Columbia Univ
Universidade Federal de São Paulo (UNIFESP)
Universidade de São Paulo (USP)
Bugshan Gen Hosp
Resumo Mitochondrial 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.
Palavra-chave Mitochondria
Protein synthesis
Autosomal recessive
Mitochondrial disease
Respiratory chain
Idioma Inglês
Financiador National Institutes of Health
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
Marriott Mitochondrial Disorders Clinical Research Fund
Número do financiamento National Institutes of Health: NS11766
National Institutes of Health: HD32062
Data de publicação 2008-12-15
Publicado em Journal of the Neurological Sciences. Amsterdam: Elsevier B.V., v. 275, n. 1-2, p. 128-132, 2008.
ISSN 0022-510X (Sherpa/Romeo, fator de impacto)
Publicador Elsevier B.V.
Extensão 128-132
Fonte http://dx.doi.org/10.1016/j.jns.2008.08.028
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000261749100023
Endereço permanente http://repositorio.unifesp.br/handle/11600/31098

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