Giovanni Vitale, Gaetano Terrone, Samuel Vitale, Francesca Vitulli, Salvatore Aiello, Carmela Bravaccio, Simone Pisano, Ilaria Bove, Francesca Rizzo, Panduranga Seetahal-Maraj, Thomas Wiese
Tuberous sclerosis complex (TSC) is a rare multisystem genetic disorder characterized by benign tumor growth in multiple organs, including the brain, kidneys, heart, eyes, lungs, and skin. Pathogenesis stems from mutations in either the TSC1 or TSC2 gene, which encode the proteins hamartin and tuberin, respectively. These proteins form a complex that inhibits the mTOR pathway, a critical regulator of cell growth and proliferation. Disruption of the tuberin-hamartin complex leads to overactivation of mTOR signaling and uncontrolled cell growth, resulting in hamartoma formation...
December 7, 2023: Biomedicines