GENETIC TESTING ESSENTIAL IN EARLY DIAGNOSIS AND TREATMENT IN TUBEROUS SCLEROSIS COMPLEX
Journal
Acta morphologica
Date Issued
2021
Author(s)
Muaremoska Kanzoska Lejla
Alili Ademi Learta
Cilevska Mladenovska Sanja
Cilevska Sandra
Serafimova Emilija
Pandovska Bisera
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
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