How Does TSC1 Mutation Affect Histological Structures?
Mutations in the TSC1 gene disrupt the normal function of the hamartin-tuberin complex, leading to uncontrolled cellular proliferation due to unregulated mTOR activity. Histologically, this manifests as an overgrowth of cells and tissues, which can be observed under a microscope as disorganized cell layers and abnormal cell morphology. For example, in the brain, this can result in the formation of cortical tubers and subependymal nodules, which are hallmark features of TSC.
