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

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.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Enriquez JA,Chomyn A,Attardi G

doi

10.1038/ng0595-47

subject

Has Abstract

pub_date

1995-05-01 00:00:00

pages

47-55

issue

1

eissn

1061-4036

issn

1546-1718

journal_volume

10

pub_type

杂志文章

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