Extract Lymphangioleiomyomatosis (LAM) is a rare and progressive cystic lung disease occurring predominantly in premenopausal woman, with rare cases reported in men. The pathogenesis is thought to be due to proliferative smooth muscle-like cells (LAM cells) that cause lung cystogenesis. LAM occurs both sporadically (sporadic-LAM), accounting for the majority of clinically diagnosed individuals, and in association with Tuberous Sclerosis Complex (TSC-LAM) 1. Bi-allelic mutation in TSC2 activates mTOR complex 1 (mTORC1), which promotes unchecked cellular proliferation and growth 2. Pharmacological inhibition of mTORC1 with rapamycin, an allosteric mTORC1 inhibitor, has been shown to stabilise lung function and attenuate disease progression in most patients with LAM 3.
Farhat et al. (Thu,) studied this question.