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PMID: 20008564 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy.

The Journal of cell biology ·Vol. 187 ·No. 6 ·2009-12-14 ·Pages 859-74

Risson V, Mazelin L, Roceri M, Sanchez H, Moncollin V, Corneloup C, Richard-Bulteau H, Vignaud A, Baas D, Defour A, Freyssenet D, Tanti JF, Le-Marchand-Brustel Y, Ferrier B, Conjard-Duplany A, Romanino K, Bauché S, Hantaï D, Mueller M, Kozma SC, Thomas G, Rüegg MA, Ferry A, Pende M, Bigard X, Koulmann N, Schaeffer L, Gangloff YG

Abstract

Mammalian target of rapamycin (mTOR) is a key regulator of cell growth that associates with raptor and rictor to form the mTOR complex 1 (mTORC1) and mTORC2, respectively. Raptor is required for oxidative muscle integrity, whereas rictor is dispensable. In this study, we show that muscle-specific inactivation of mTOR leads to severe myopathy, resulting in premature death. mTOR-deficient muscles display metabolic changes similar to those observed in muscles lacking raptor, including impaired oxidative metabolism, altered mitochondrial regulation, and glycogen accumulation associated with protein kinase B/Akt hyperactivation. In addition, mTOR-deficient muscles exhibit increased basal glucose uptake, whereas whole body glucose homeostasis is essentially maintained. Importantly, loss of mTOR exacerbates the myopathic features in both slow oxidative and fast glycolytic muscles. Moreover, mTOR but not raptor and rictor deficiency leads to reduced muscle dystrophin content. We provide evidence that mTOR controls dystrophin transcription in a cell-autonomous, rapamycin-resistant, and kinase-independent manner. Collectively, our results demonstrate that mTOR acts mainly via mTORC1, whereas regulation of dystrophin is raptor and rictor independent.

MeSH Terms
Adaptor Proteins, Signal Transducing Age Factors Animals Carrier Proteins/antagonists & inhibitors,genetics,metabolism Cells, Cultured Dystrophin/genetics,metabolism Electroporation Energy Metabolism Enzyme Activation Female Glucose/metabolism Glycogen/metabolism Mice Mice, Inbred C57BL Mice, Knockout Mitochondria, Muscle/enzymology Muscle Contraction Muscle, Skeletal/drug effects,enzymology,physiopathology Muscular Dystrophy, Animal/enzymology,genetics,physiopathology Mutation Oxidation-Reduction Phosphotransferases (Alcohol Group Acceptor)/antagonists & inhibitors,deficiency,genetics,metabolism Proto-Oncogene Proteins c-akt/metabolism Rapamycin-Insensitive Companion of mTOR Protein Rats Regulatory-Associated Protein of mTOR Severity of Illness Index Sirolimus/pharmacology TOR Serine-Threonine Kinases Transduction, Genetic Utrophin/metabolism
Chemicals
Adaptor Proteins, Signal Transducing Carrier Proteins Dystrophin Rapamycin-Insensitive Companion of mTOR Protein Regulatory-Associated Protein of mTOR Rptor protein, mouse Utrophin rictor protein, mouse Glycogen Phosphotransferases (Alcohol Group Acceptor) mTOR protein, mouse Proto-Oncogene Proteins c-akt TOR Serine-Threonine Kinases Glucose Sirolimus
Authors & Affiliations
28 authors, click to expand affiliations / ORCID
Risson Valérie
Laboratoire de Biologie Moléculaire de la Cellule, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 5239, IFR128, Université de Lyon, Equipe Différenciation Neuromusculaire, Ecole Normale Supérieure, 69364 Lyon Cedex 07, France.
Mazelin Laetitia
Roceri Mila
Sanchez Hervé
Moncollin Vincent
Corneloup Claudine
Richard-Bulteau Hélène
Vignaud Alban
Baas Dominique
Defour Aurélia
Freyssenet Damien
Tanti Jean-François
Le-Marchand-Brustel Yannick
Ferrier Bernard
Conjard-Duplany Agnès
Romanino Klaas
Bauché Stéphanie
Hantaï Daniel
Mueller Matthias
Kozma Sara C
Thomas George
Rüegg Markus A
Ferry Arnaud
Pende Mario
Bigard Xavier
Koulmann Nathalie
Schaeffer Laurent
Gangloff Yann-Gaël
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Article Info
Journal
The Journal of cell biology
Abbr.
J Cell Biol
ISSN
1540-8140
Published
2009-12-14
Pages
859-74
Language
English
Region
United States
NLM ID
0375356
PMCID
PMC2806319
Subset
IM
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