NRI-Impact-Report-2019_WEB

Tuberous sclerosis
Published in Proceedings of the National Academy of Sciences U.S.A., February 2019
To date, the scientific community has understood mTORC1, a protein complex that regulates cell
metabolism, as the major driving force behind tuberous sclerosis. But according to a newly-published
study led by a team at the Duncan NRI, the development of this rare condition also involves a
second mechanism that is independent of mTORC1. This newly-discovered mechanism results in the
accumulation of glycogen, a main source of energy, which damages cells and results in disease.
This discovery has the potential to lead to new treatments that might benefit patients who only
partially respond to current therapies focused on mTORC1.
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