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Tuberous Sclerosis Complex

Role of the TSC1-TSC2 complex in the pathogenesis of Tuberous Sclerosis Complex

Tuberous sclerosis complex (TSC) is a neurological disorder characterised by the combination of seizures, mental retardation and other neurological symptoms with the development of tumour-like lesions in a variety of organs and tissues. The disease is caused by mutations in either the TSC1 gene on chromosome 9q34, or the TSC2 gene on chromosome 16p13.3.
The TSC1 and TSC2 gene products, TSC1 and TSC2, interact to form a protein complex that inhibits signal transduction to the downstream effectors of the mammalian target of rapamycin (mTOR), and thereby prevents unnecessary cell growth.
Our research is focused on describing in more detail the structure and regulation of the TSC1-TSC2 complex. In particular we are interested in investigating the effects of specific TSC1 and TSC2 mutations on the function of the TSC1-TSC2 complex, and in relating the biochemical effects of these mutations to the disease phenotypes observed in our large cohort of TSC patients.