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

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

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

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.

Integrity signals

Registry

Crossref · 10.1038/ng0595-47

Cites

36 of 36 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • m.8344A N G decreases mt-tRNA stability in vitro and in cybrid osteosarcoma cells.

    “Finally, decreased mt-tRNA stability has been described with the m.8344A N G mutation both in vitro and in cybrid osteosarcoma cells [198,202].”

    From Mitochondrial DNA mutations and human disease (2010) · cites this paper as [202]

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Authors
Enriquez, J. A., Chomyn, A., & Attardi, G.
Affiliations
California Institute of Technology (US)
Venue
Nature Genetics
Published
1995-05
Volume
10
Issue
1
Pages
47-55
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
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
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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review