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.

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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