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

• Main Authors: Mariantonietta Capristo (Author), Valentina Del Dotto (Author), Concetta Valentina Tropeano (Author), Claudio Fiorini (Author), Leonardo Caporali (Author), Chiara La Morgia (Author), Maria Lucia Valentino (Author), Monica Montopoli (Author), Valerio Carelli (Author), Alessandra Maresca (Author)
• Format: Book
• Published: BMC, 2022-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...