MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNALys and premature translation termination
- 1 May 1995
- journal article
- Published by Springer Nature in Nature Genetics
- Vol. 10 (1), 47-55
- https://doi.org/10.1038/ng0595-47
Abstract
We have investigated the pathogenetic mechanism of the mitochondrial tRNA(Lys) gene mutation (position 8344) associated with MERRF encephalomyopathy in several mitochondrial DNA (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.Keywords
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