Tuberous sclerosis complex (TSC) is a rare genetic disease, which is characterized by noncancerous
tumors in multi-organ systems in the body. Mutations in the TSC1 or TSC2 genes are known
to cause the disease. The resultant mutant proteins TSC1 (hamartin) and TSC2 (tuberin) complex evade
its normal tumor suppressor function, which leads to abnormal cell growth and proliferation. Both TSC1
and TSC2 are involved in several protein-protein interactions, which play a significant role in maintaining
cellular homeostasis. The recent biochemical, genetic, structural biology, clinical and drug discovery
advancements on TSC give a useful insight into the disease as well as the molecular aspects of TSC1
and TSC2. The complex nature of TSC disease, a wide range of manifestations, mosaicism and several
other factors limits the treatment choices. This review is a compilation of the course of TSC, starting
from its discovery to the current findings that would take us a step ahead in finding a cure for TSC.
Keywords: Tuberous sclerosis complex, Rapalogs treatment, mTOR inhibition, Crystal structure, Protein-protein interaction,
Coiled-coil sequence, Disruptive mutation, Hypoxia, Heat shock proteins.
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