How is Hamartin Related to Tuberous Sclerosis Complex?
Mutations in the TSC1 or TSC2 genes lead to a loss of function in the hamartin-tuberin complex, resulting in the dysregulation of the mTOR pathway. This dysregulation is a key contributor to the formation of hamartomas, or benign growths, in multiple tissues. Tuberous Sclerosis Complex can affect the brain, kidneys, heart, lungs, and skin, leading to a variety of clinical manifestations such as seizures, renal cysts, and facial angiofibromas.
