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

doi:10.1038/ng0595-47

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Article

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

Nature genetics - 1 May 1995

Enriquez J A, Chomyn A, Attardi G

Abstract excerpt

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(L...

Topics

Cell Line
DNA, Mitochondrial
Humans
Lysine
MERRF Syndrome
Methionine
Mitochondria
Mutation
NADH Dehydrogenase
Oxygen Consumption
Peptide Chain Termination, Translational
Protein Biosynthesis
RNA, Transfer, Amino Acyl
RNA, Transfer, Lys
Ribosomes
Transformation, Genetic

Source

Open in PubMed

Identifiers

PMID: 7647790
DOI: 10.1038/ng0595-47

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7647790-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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