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Published May 1995 | public
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MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA^(Lys) and premature translation termination

Enriquez, José Antonio
Chomyn, Anne
Attardi, Giuseppe
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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.

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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