Tuberous Sclerosis

The second focus of my laboratory is to study the function and regulation of the protein product of the TSC2 gene, tuberin. Tuberin is known to form a complex with the protein product of the TSC1 gene, hamartin, and together this complex functions as a tumor suppressor. Tuberous Sclerosis (TS) is a devastating form of cancer affecting approximately 1:5000 children that occurs when either TSC1 or TSC2 has been mutated. Considering the severity and the prevalence of this disorder it is alarming that so little research has been done on tuberin and hamartin. Only recently has it been determined that tuberin plays a key role in regulating the cell cycle, functioning to halt the cell from replicating its DNA.