TSC1TSC2

TSC1TSC2 refers to the genes TSC1 and TSC2, which encode the proteins hamartin and tuberin, respectively. These proteins form a complex that acts as a key regulator of the mechanistic target of rapamycin (mTOR) signaling pathway. The TSC1/TSC2 complex functions as a GTPase-activating protein (GAP) for the small GTPase Rheb. When TSC1 and TSC2 are bound together, they inhibit the activity of mTOR complex 1 (mTORC1). mTORC1 is a central controller of cell growth, proliferation, metabolism, and survival. Therefore, the TSC1/TSC2 complex plays a crucial role in cellular homeostasis by dampening excessive growth signals.

Mutations in either TSC1 or TSC2 are the primary cause of Tuberous Sclerosis Complex (TSC), a genetic disorder characterized by the development of benign tumors (hamartomas) in various organs, including the brain, skin, kidneys, heart, and lungs. These mutations lead to a loss of function in the TSC1/TSC2 complex, resulting in the hyperactivation of mTORC1. This uncontrolled mTORC1 signaling drives abnormal cell proliferation and differentiation, leading to the formation of hamartomas. Research into the TSC1/TSC2 complex and its role in TSC continues to be an active area, with a focus on understanding the molecular mechanisms of the disease and developing targeted therapies to inhibit the hyperactive mTORC1 pathway.