Cited by 285Mitochondrial Function and PathologyRNA and protein synthesis mechanismsRNA modifications and cancer

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MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNALys and premature translation termination

Enriquez, José Antonio, Chomyn, Anne, Attardi, Giuseppe·1995·Nature Genetics

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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 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.

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Authors: Enriquez, J. A., Chomyn, A., & Attardi, G.
Affiliations: California Institute of Technology (US)
ORCID: Attardi, Giuseppe
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 1995-05
Volume: 10
Issue: 1
Pages: 47-55
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng0595-47
OpenAlex: W2043779724
Cited by: 285
References: 36
Citations by year: 2026: 2 · 2025: 2 · 2024: 5 · 2023: 4 · 2022: 6 · 2021: 6 · 2020: 8 · 2019: 6 · 2018: 11 · 2017: 5 · 2016: 8 · 2015: 13 · 2014: 7 · 2013: 6 · 2012: 12
FWCI: 5.95
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
CaltechAUTHORS (California Institute of Technology) (submittedVersion)
Funders: National Institute of General Medical Sciences (GM11726)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA and protein synthesis mechanisms
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA modifications and cancer
Keywords: MERRF syndrome, mitochondrial DNA mutations, tRNALys, aminoacylation, mitochondrial encephalomyopathy, pathogenesis
MeSH terms: Cell Line, DNA, Mitochondrial, Humans, Lysine, Methionine, Mitochondria, Mutation, NADH Dehydrogenase, Oxygen Consumption, Peptide Chain Termination, Translational, Ribosomes, RNA, Transfer, Amino Acyl, RNA, Transfer, Lys, Transformation, Genetic, Protein Biosynthesis, MERRF Syndrome

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MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNALys and premature translation termination

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