Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis

Abstract The mTOR inhibitor rapamycin ameliorates the clinical and biochemical phenotype of mouse, worm, and cellular models of mitochondrial disease, via an unclear mechanism. Here, we show that prolonged rapamycin treatment improved motor endurance, corrected morphological abnormalities of muscle,...

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Main Authors: Gabriele Civiletto, Sukru Anil Dogan, Raffaele Cerutti, Gigliola Fagiolari, Maurizio Moggio, Costanza Lamperti, Cristiane Benincá, Carlo Viscomi, Massimo Zeviani
Format: Article
Language:English
Published: Springer Nature 2018-10-01
Series:EMBO Molecular Medicine
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Online Access:https://doi.org/10.15252/emmm.201708799
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author Gabriele Civiletto
Sukru Anil Dogan
Raffaele Cerutti
Gigliola Fagiolari
Maurizio Moggio
Costanza Lamperti
Cristiane Benincá
Carlo Viscomi
Massimo Zeviani
author_facet Gabriele Civiletto
Sukru Anil Dogan
Raffaele Cerutti
Gigliola Fagiolari
Maurizio Moggio
Costanza Lamperti
Cristiane Benincá
Carlo Viscomi
Massimo Zeviani
author_sort Gabriele Civiletto
collection DOAJ
description Abstract The mTOR inhibitor rapamycin ameliorates the clinical and biochemical phenotype of mouse, worm, and cellular models of mitochondrial disease, via an unclear mechanism. Here, we show that prolonged rapamycin treatment improved motor endurance, corrected morphological abnormalities of muscle, and increased cytochrome c oxidase (COX) activity of a muscle‐specific Cox15 knockout mouse (Cox15sm/sm). Rapamycin treatment restored autophagic flux, which was impaired in naïve Cox15sm/sm muscle, and reduced the number of damaged mitochondria, which accumulated in untreated Cox15sm/sm mice. Conversely, rilmenidine, an mTORC1‐independent autophagy inducer, was ineffective on the myopathic features of Cox15sm/sm animals. This stark difference supports the idea that inhibition of mTORC1 by rapamycin has a key role in the improvement of the mitochondrial function in Cox15sm/sm muscle. In contrast to rilmenidine, rapamycin treatment also activated lysosomal biogenesis in muscle. This effect was associated with increased nuclear localization of TFEB, a master regulator of lysosomal biogenesis, which is inhibited by mTORC1‐dependent phosphorylation. We propose that the coordinated activation of autophagic flux and lysosomal biogenesis contribute to the effective clearance of dysfunctional mitochondria by rapamycin.
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spelling doaj-art-4ceca83a73594e0b84ecb798f4bbcb332025-08-20T04:03:07ZengSpringer NatureEMBO Molecular Medicine1757-46761757-46842018-10-01101111510.15252/emmm.201708799Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesisGabriele Civiletto0Sukru Anil Dogan1Raffaele Cerutti2Gigliola Fagiolari3Maurizio Moggio4Costanza Lamperti5Cristiane Benincá6Carlo Viscomi7Massimo Zeviani8MRC Mitochondrial Biology Unit, University of CambridgeMRC Mitochondrial Biology Unit, University of CambridgeMRC Mitochondrial Biology Unit, University of CambridgeNeuromuscular and Rare Diseases Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore PoliclinicoNeuromuscular and Rare Diseases Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore PoliclinicoIRCCS Foundation Neurological Institute “C. Besta”MRC Mitochondrial Biology Unit, University of CambridgeMRC Mitochondrial Biology Unit, University of CambridgeMRC Mitochondrial Biology Unit, University of CambridgeAbstract The mTOR inhibitor rapamycin ameliorates the clinical and biochemical phenotype of mouse, worm, and cellular models of mitochondrial disease, via an unclear mechanism. Here, we show that prolonged rapamycin treatment improved motor endurance, corrected morphological abnormalities of muscle, and increased cytochrome c oxidase (COX) activity of a muscle‐specific Cox15 knockout mouse (Cox15sm/sm). Rapamycin treatment restored autophagic flux, which was impaired in naïve Cox15sm/sm muscle, and reduced the number of damaged mitochondria, which accumulated in untreated Cox15sm/sm mice. Conversely, rilmenidine, an mTORC1‐independent autophagy inducer, was ineffective on the myopathic features of Cox15sm/sm animals. This stark difference supports the idea that inhibition of mTORC1 by rapamycin has a key role in the improvement of the mitochondrial function in Cox15sm/sm muscle. In contrast to rilmenidine, rapamycin treatment also activated lysosomal biogenesis in muscle. This effect was associated with increased nuclear localization of TFEB, a master regulator of lysosomal biogenesis, which is inhibited by mTORC1‐dependent phosphorylation. We propose that the coordinated activation of autophagic flux and lysosomal biogenesis contribute to the effective clearance of dysfunctional mitochondria by rapamycin.https://doi.org/10.15252/emmm.201708799autophagylysosomal biogenesismitochondrial diseasemTORC1rapamycin
spellingShingle Gabriele Civiletto
Sukru Anil Dogan
Raffaele Cerutti
Gigliola Fagiolari
Maurizio Moggio
Costanza Lamperti
Cristiane Benincá
Carlo Viscomi
Massimo Zeviani
Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis
EMBO Molecular Medicine
autophagy
lysosomal biogenesis
mitochondrial disease
mTORC1
rapamycin
title Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis
title_full Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis
title_fullStr Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis
title_full_unstemmed Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis
title_short Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis
title_sort rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis
topic autophagy
lysosomal biogenesis
mitochondrial disease
mTORC1
rapamycin
url https://doi.org/10.15252/emmm.201708799
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