GENETIC TESTING ESSENTIAL IN EARLY DIAGNOSIS AND TREATMENT IN TUBEROUS SCLEROSIS COMPLEX

Abstract

Introduction: Tuberous sclerosis complex (TSC) is rare genetic neuro cutaneous disease. It is characterized by cutaneous changes and formation of hamartomas in multiple organs with consecutive, mostly neurologic conditions that lead to morbidity and mortality. The affected genes are TSC complex subunit 1 and TSC complex subunit 2, encoding hamartin and tuberin respectively. Failure in formation of TSC1:TSC2 complex is culminating in loss of tonic inhibition of the mechanistic target of rapamycin (mTOR) pathway that leads to deregulation of protein synthesis and cell growing. The mTOR inhibitors, rapamycin (sirolimus) and everolimus improve pulmonary function in patients with TSC and reduce the size of renal and brain lesions