{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Capristo M"],"funding":["Ministero della Salute","Telethon"],"pagination":["90"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9347137"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["28(1)"],"pubmed_abstract":["<h4>Background</h4>Myoclonus, Epilepsy and Ragged-Red-Fibers (MERRF) is a mitochondrial encephalomyopathy due to heteroplasmic mutations in mitochondrial DNA (mtDNA) most frequently affecting the tRNA<sup>Lys</sup> gene at position m.8344A > G. Defective tRNA<sup>Lys</sup> severely impairs mitochondrial protein synthesis and respiratory chain when a high percentage of mutant heteroplasmy crosses the threshold for full-blown clinical phenotype. Therapy is currently limited to symptomatic management of myoclonic epilepsy, and supportive measures to counteract muscle weakness with co-factors/supplements.<h4>Methods</h4>We tested two therapeutic strategies to rescue mitochondrial function in cybrids and fibroblasts carrying different loads of the m.8344A > G mutation. The first strategy was ai"],"journal":["Molecular medicine (Cambridge, Mass.)"],"pubmed_title":["Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNA<sup>Lys</sup>."],"pmcid":["PMC9347137"],"funding_grant_id":["GGP20115"],"pubmed_authors":["Carelli V","Maresca A","Montopoli M","Caporali L","La Morgia C","Fiorini C","Capristo M","Tropeano CV","Del Dotto V","Valentino ML"],"additional_accession":[]},"is_claimable":false,"name":"Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNA<sup>Lys</sup>.","description":"<h4>Background</h4>Myoclonus, Epilepsy and Ragged-Red-Fibers (MERRF) is a mitochondrial encephalomyopathy due to heteroplasmic mutations in mitochondrial DNA (mtDNA) most frequently affecting the tRNA<sup>Lys</sup> gene at position m.8344A > G. Defective tRNA<sup>Lys</sup> severely impairs mitochondrial protein synthesis and respiratory chain when a high percentage of mutant heteroplasmy crosses the threshold for full-blown clinical phenotype. Therapy is currently limited to symptomatic management of myoclonic epilepsy, and supportive measures to counteract muscle weakness with co-factors/supplements.<h4>Methods</h4>We tested two therapeutic strategies to rescue mitochondrial function in cybrids and fibroblasts carrying different loads of the m.8344A > G mutation. The first strategy was ai","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Aug","modification":"2025-04-26T11:57:03.765Z","creation":"2025-02-18T22:39:49.99Z"},"accession":"S-EPMC9347137","cross_references":{"pubmed":["35922766"],"doi":["10.1186/s10020-022-00519-z"]}}