MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts.

doi:10.1073/pnas.89.10.4221

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Article

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts.

Proceedings of the National Academy of Sciences of the United States of America - 15 May 1992

Chomyn A, Martinuzzi A, Yoneda M, Daga A, Hurko O, Johns D, Lai S T, Nonaka I, Angelini C, Attardi G

Abstract excerpt

The pathogenetic mechanism of the mitochondrial tRNA(LeuUUR) gene mutation responsible for the MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) syndrome was investigated in transformants obtained by transfer of mitochondria from three genetically unrelated MELAS patients into human mitochondrial DNA (mtDNA)-less (rho 0) cells. Marked defects in mitochondrial protein...

Topics

Acidosis, Lactic
Adult
Binding Sites
Blotting, Southern
Cell Line
Cerebrovascular Disorders
DNA, Mitochondrial
Female
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mitochondria, Muscle

Mutation

Neuromuscular Diseases

Osteosarcoma

Oxygen Consumption

Polymerase Chain Reaction

Protein Biosynthesis

Proteins

Source

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Identifiers

PMID: 1584755
DOI: 10.1073/pnas.89.10.4221
PMCID: PMC49053

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1584755-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts.PMID 1584755Read ↗

The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes.Semantic proximity Read ↗

Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.Semantic proximity Read ↗

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