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

Author Dey, R. Google Scholar
Tengan, C. H. Google Scholar
Morita, MPA Google Scholar
Kiyomoto, B. H. Google Scholar
Moraes, C. T. Google Scholar
Institution Univ Miami
Universidade Federal de São Paulo (UNIFESP)
Universidade de São Paulo (USP)
Abstract 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.
Keywords novel mitochondrial DNA mutation
myopathy
nucleotide insertion
adenine
Language English
Date 2000-10-01
Published in Neuromuscular Disorders. Oxford: Pergamon-Elsevier B.V., v. 10, n. 7, p. 488-492, 2000.
ISSN 0960-8966 (Sherpa/Romeo, impact factor)
Publisher Elsevier B.V.
Extent 488-492
Origin http://dx.doi.org/10.1016/S0960-8966(00)00125-5
Access rights Closed access
Type Article
Web of Science ID WOS:000089696400006
URI http://repositorio.unifesp.br/handle/11600/26392

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