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mTOR pathophysiology in rare human diseases

Final Report Summary - RARITOR (mTOR pathophysiology in rare human diseases)

One key feature of eukaryotic cells is their ability to sense nutrient availability and adapt their growth and metabolism. The mammalian Target Of Rapamycin (mTOR) has an essential and evolutionary conserved role in nutrient signal transduction. In this research proposal, we contributed to reveal the following aspects of mTOR pathophysiology:
1) How caloric restriction may delay senescence and ageing.
2) How lipid accumulation in liver may contribute to cancer development.
3) What is the origin of rhabdomyolysis and lipid accumulation in lipin1 deficiency
4) Why aberrant mTOR activation may also trigger seizures and polycystic kidney, as observed in several genetic diseases.