Enriquez, José Antonio and Chomyn, Anne and Attardi, Giuseppe (1995) MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA^(Lys) and premature translation termination. Nature Genetics, 10 (1). pp. 47-55. ISSN 1061-4036. doi:10.1038/ng0595-47. https://resolver.caltech.edu/CaltechAUTHORS:20150624-150439462
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Abstract
We have investigated the pathogenetic mechanism of the mitochondrial tRNA^(Lys) gene mutation (position 8344) associated with MERRF encephalomyopathy in several mitochondrial DMA (mtDNA)−less cell transformants carrying the mutation and in control cells. A decrease of 50−60% in the specific tRNA^(Lys) aminoacylation capacity per cell was found in mutant cells. Furthermore, several lines of evidence reveal that the severe protein synthesis impairment in MERRF mutation−carrying cells is due to premature termination of translation at each or near each lysine codon, with the deficiency of aminoacylated tRNA^(Lys) being the most likely cause of this phenomenon.
| Item Type: | Article | |||||||||
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| Additional Information: | © 1995 Nature Publishing Group. Received 14 November 1994; Accepted 13 February 1995. We are grateful to M. Yoneda, S.T. Lai, N. Goran-Larsson and S. Horai, P. Fernandez-Silva, A. Drew, B. Keeley and L. Tefo for their help and contribution to this work. This work was supported by NIH grant GM-11726 to G.A., Muscular Dystrophy Association grant 37826 to G.A. and A. C. and an P.F.P.I. Fellowship from the Spanish Ministry of Education to J.A.E. | |||||||||
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| Issue or Number: | 1 | |||||||||
| DOI: | 10.1038/ng0595-47 | |||||||||
| Record Number: | CaltechAUTHORS:20150624-150439462 | |||||||||
| Persistent URL: | https://resolver.caltech.edu/CaltechAUTHORS:20150624-150439462 | |||||||||
| Official Citation: | Enriquez, J. A., Chomyn, A., & Attardi, G. (1995). MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNALys and premature translation termination. [10.1038/ng0595-47]. Nat Genet, 10(1), 47-55. | |||||||||
| Usage Policy: | No commercial reproduction, distribution, display or performance rights in this work are provided. | |||||||||
| ID Code: | 58591 | |||||||||
| Collection: | CaltechAUTHORS | |||||||||
| Deposited By: | INVALID USER | |||||||||
| Deposited On: | 24 Jun 2015 22:31 | |||||||||
| Last Modified: | 10 Nov 2021 22:07 |
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