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

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

Abstract Background Myoclonus, Epilepsy and Ragged-Red-Fibers (MERRF) is a mitochondrial encephalomyopathy due to heteroplasmic mutations in mitochondrial DNA (mtDNA) most frequently affecting the tRNA Lys gene at position m.8344A > G. Defective tRNALys severely impairs mitochondrial protein synt...

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Bibliographic Details
Main Authors: Mariantonietta Capristo, Valentina Del Dotto, Concetta Valentina Tropeano, Claudio Fiorini, Leonardo Caporali, Chiara La Morgia, Maria Lucia Valentino, Monica Montopoli, Valerio Carelli, Alessandra Maresca
Format: Article
Language:English
Published: BMC 2022-08-01
Series:Molecular Medicine
Subjects:
MERRF
Mitochondrial DNA
Niacin
PGC-1α
Rapamycin
mTORC1
Online Access:https://doi.org/10.1186/s10020-022-00519-z

Internet

https://doi.org/10.1186/s10020-022-00519-z

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