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Article

Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys.

Molecular medicine (Cambridge, Mass.) - 3 Aug 2022

Capristo Mariantonietta, Del Dotto Valentina, Tropeano Concetta Valentina, Fiorini Claudio, Caporali Leonardo, La Morgia Chiara, Valentino Maria Lucia, Montopoli Monica, Carelli Valerio, Maresca Alessandra

Abstract excerpt

BACKGROUND: Myoclonus, Epilepsy and Ragged-Red-Fibers (MERRF) is a mitochondrial encephalomyopathy due to heteroplasmic mutations in mitochondrial DNA (mtDNA) most frequently affecting the tRNALys gene at position m.8344A > G. Defective tRNALys severely impairs mitochondrial protein synthesis and respiratory chain when a high percentage of mutant heteroplasmy crosses the threshold for full-blown clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35922766
DOI: 10.1186/s10020-022-00519-z
PMCID: PMC9347137

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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