Section on Neuroadaptation and Protein Metabolism (SNPM)
Tuberous Sclerosis Complex
Tuberous Sclerosis Complex (TSC), a syndromic form of autism, leads to increased activity of a pathway involved in the regulation of cell growth. The estimated frequency of TSC is 1/6000. TSC is caused by mutations in either the TSC1 or TSC2 genes. The protein products of these genes act in a complex as growth suppressors by inhibiting a kinase, mammalian target of rapamycin (mTOR). Loss of mTOR regulation leads to abnormal differentiation and development and to the generation of enlarged cells as are seen in TSC brain lesions. Our studies of a TSC mouse model address changes in brain protein synthesis as a core phenotype in TSC and how proposed treatments affect this phenotype.