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MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA^(Lys) and premature translation termination

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. 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
Related URLs:
URLURL TypeDescription
http://dx.doi.org/10.1038/ng0595-47DOIArticle
http://www.nature.com/ng/journal/v10/n1/abs/ng0595-47.htmlPublisherArticle
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.
Funders:
Funding AgencyGrant Number
NIHGM-11726
Muscular Dystrophy Association37826
Ministerio de Educación y Cultura (Spain)UNSPECIFIED
Issue or Number:1
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: Joanne McCole
Deposited On:24 Jun 2015 22:31
Last Modified:03 Oct 2019 08:37

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