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Published on: October 23, 2018
Muscle mTOR controls iron homeostasis and ferritinophagy via NRF2, HIFs and AKT/PKB signaling pathways
Agnès Conjard-Duplany1, Alexis Osseni2, Aline Lamboux3
1Laboratoire Physiopathologie et Génétique du Neurone et du Muscle (PGNM), Institut NeuroMyoGène, Université Claude Bernard Lyon 1, INSERM U1315, CNRS UMR 5261, 8 avenue Rockefeller, Lyon, 69008, France. agnes.duplany@univ-lyon1.fr.
Abstract:
Balanced mTOR activity and iron levels are crucial for muscle integrity, with evidence suggesting mTOR regulates cellular iron homeostasis. In this study, we investigated iron metabolism in muscle-specific mTOR knockout mice (mTORmKO) and its relation to their myopathy. The mTORmKO mice exhibited distinct iron content patterns across muscle types and ages. Slow-twitch soleus muscles initially showed reduced iron levels in young mice, which increased with the dystrophy progression but remained within control ranges. In contrast, the less affected fast-twitch muscles maintained near-normal iron levels from a young age. Interestingly, both mTORmKO muscle types exhibited iron metabolism markers indicative of iron excess, including decreased transferrin receptor 1 (TFR1) and increased levels of ferritin (FTL) and ferroportin (FPN) proteins. Paradoxically, these changes were accompanied by downregulated Ftl and Fpn mRNA levels, indicating post-transcriptional regulation. This discordant regulation resulted from disruption of key iron metabolism pathways, including NRF2/NFE2L2, HIFs, and AKT/PKB signaling. Mechanistically, mTOR deficiency impaired transcriptional regulation of iron-related genes mediated by NRF2 and HIFs. Furthermore, it triggered ferritin accumulation through two NRF2 mechanisms: (1) derepression of ferritin translation via suppression of the FBXL5-IRP axis, and (2) autophagosomal sequestration driven by NCOA4-dependent ferritin targeting to autophagosomes, coupled with age-related impairments of autophagy linked to chronic AKT/PKB activation. Three-week spermidine supplementation in older mTORmKO mice was associated with normalized AKT/PKB-FOXO signaling, increased endolysosomal FTL and reduced total FTL levels in the dystrophic soleus muscle. These findings underscore mTOR's crucial role in skeletal muscle iron metabolism and suggest spermidine as a potential strategy to address impaired ferritinophagy due to autophagy blockade in dystrophic muscle.
Insights
Mammalian target of rapamycin (mTOR) deficiency disrupts muscle iron metabolism, causing iron dysregulation and myopathy. Spermidine supplementation may help restore iron balance and muscle health by improving ferritinophagy.
Area of Science:
- Muscle physiology
- Cellular iron metabolism
- Molecular signaling pathways
Background:
- Balanced mechanistic target of rapamycin (mTOR) activity and iron homeostasis are vital for muscle integrity.
- mTOR is implicated in regulating cellular iron levels, but its specific role in muscle iron metabolism and myopathy is not fully understood.
Purpose of the Study:
- To investigate the relationship between mTOR deficiency, iron metabolism, and myopathy in muscle-specific mTOR knockout (mTORmKO) mice.
- To elucidate the molecular mechanisms underlying iron dysregulation in mTOR-deficient muscles.
Main Methods:
- Analysis of iron content, iron metabolism proteins (TFR1, FTL, FPN), and mRNA levels in different muscle types of mTORmKO mice.
- Investigation of signaling pathways including NRF2, HIFs, AKT/PKB, and their impact on iron gene regulation.
- Assessment of spermidine supplementation effects on signaling pathways and iron metabolism in aged mTORmKO mice.
Main Results:
- mTORmKO mice displayed altered iron patterns and markers of iron excess (decreased TFR1, increased FTL and FPN proteins) despite downregulated Ftl and Fpn mRNA.
- mTOR deficiency impaired NRF2 and HIF-mediated transcriptional regulation and led to ferritin accumulation via NRF2-dependent mechanisms and impaired autophagy.
- Spermidine treatment in aged mTORmKO mice normalized AKT/PKB-FOXO signaling, reduced total ferritin, and increased endolysosomal ferritin in soleus muscle.
Conclusions:
- mTOR plays a critical role in maintaining skeletal muscle iron homeostasis.
- Dysregulated iron metabolism, particularly ferritin accumulation due to impaired ferritinophagy, contributes to muscle pathology in mTOR deficiency.
- Spermidine shows potential as a therapeutic agent for muscle diseases characterized by autophagy blockade and iron dysregulation.
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