A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNA(Gln) anticodon loop

A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNA(Gln) anticodon loop

Autor Dey, R. Google Scholar
Tengan, C. H. Google Scholar
Morita, MPA Google Scholar
Kiyomoto, B. H. Google Scholar
Moraes, C. T. Google Scholar
Instituição Univ Miami
Universidade Federal de São Paulo (UNIFESP)
Universidade de São Paulo (USP)
Resumo We report a novel mitochondrial DNA alteration in a 12-year-old boy with myopathy. We identified a single nucleotide insertion tan adenine) in the mitochondrial tRNA-glutamine gene. This addition of an additional adenine in a polyadenine stretch (at mitochondrial DNA positions 4366-4369), alters the length of the evolutionary conserved anticodon loop from seven to eight bases. the nt-4370 addition was heteroplasmic and was abundant in the patient's muscle. Lower proportions of mutated mitochondrial DNA were observed in skin fibroblasts. but were below delectable levels in while blood cells. A muscle biopsy of the patient showed ragged red fibers and an unusually high percentage of cytochrome c oxidase-deficient fibers (89%). the pathogenicity of the mutation was also evident by the fact that fibers harboring lower levels of the mutation showed normal cytochrome c oxidase activity. the insertion in the anticodon loop of tRNA(Gln) gene identified in our patient may provide a unique tool to study protein synthesis in human mitochondria. ( (C) 2000 Elsevier Science B.V. All rights reserved.
Palavra-chave novel mitochondrial DNA mutation
myopathy
nucleotide insertion
adenine
Idioma Inglês
Data de publicação 2000-10-01
Publicado em Neuromuscular Disorders. Oxford: Pergamon-Elsevier B.V., v. 10, n. 7, p. 488-492, 2000.
ISSN 0960-8966 (Sherpa/Romeo, fator de impacto)
Publicador Elsevier B.V.
Extensão 488-492
Fonte http://dx.doi.org/10.1016/S0960-8966(00)00125-5
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000089696400006
Endereço permanente http://repositorio.unifesp.br/handle/11600/26392

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