Long-Term Effects of Sirolimus on Human Skin TSC2-Null Fibroblast‒Like Cells.

ABSTRACT: Tuberous sclerosis complex (TSC) is an autosomal-dominant disorder characterized by hamartomatous tumors of the skin, kidneys, brain, and lungs. TSC is caused by mutations in the TSC1 and TSC2 genes, which result in hyperactivation of the mTOR, leading to dysregulated cell growth and autophagy. Rapamycin (sirolimus) shrinks TSC tumors, but the clinical benefits of sirolimus are not sustained after its withdrawal. In this study, we studied the cellular processes critical for tumor formation and growth, including cell proliferation and cell size. TSC2^-/- and TSC2^+/- cells were isolated from TSC skin tumors and normal-appearing skin, respectively. Cells were incubated with sirolimus for 72 hours. Withdrawal of sirolimus from TSC2^-/- cells resulted in a highly

SUBMITTER: Cai X 

PROVIDER: S-EPMC9942268 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature