Tuberous sclerosis complex (TSC) is an inherited disease caused by mutations in the TSC1 and TSC2 genes. Individuals with TSC can suffer from a variety of symptoms including epilepsy, learning, and behavioral problems, and lung and renal failure. The identification and characterization of the TSC1 and TSC2 genes laid the foundation for our current understanding of the pathogenesis of the disease and has enabled scientists to develop rational therapies for TSC.
The identification of TSC1 and TSC2 mutations in families affected by TSC provides individuals with information about their affection status. Unfortunately, in some cases it can be difficult to determine whether a change identified in the TSC1 or TSC2 gene is pathogenic. The aim of this project is to use our current knowledge of the biochemical functions of the TSC1 and TSC2 genes to help resolve these difficult cases. Not only will this help the families concerned, but it will also provide insight into how the protein products of the TSC1 and TSC2 genes function. The study will be of immediate benefit to TSC patients, and it will contribute to an in-depth understanding of the molecular biology of the TSC1 and TSC2 genes. This should help advance research into the molecular mechanisms that control cell growth and contribute to efforts to combat diseases, such as cancer, that are caused by a loss of cell growth control.
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