In healthy individuals who do not have TSC, the products of the TSC1 and TSC2 gene work together to keep cell division in check. They do this by switching off a component of the cell called mTOR that, if improperly regulated stimulates cell growth and multiplication. In individuals with TSC this switching off mechanism does not work properly and mTOR signals the cells to grow and multiply inappropriately. This can lead to the development of tumours, or overgrowths of cells in many organs of the body. A drug has been developed that can inhibit (work against) mTOR, putting the break on cell division in tumours in some, but not all scenarios (shown to be affective at treating some but not all manifestations of TSC in some individuals).
Work already undertaken by Kayleigh and the Cardiff Team has revealed a new and important cellular function of TSC2 that is distinct from its role in regulating mTOR. It is believed that this new function may be causing some aspects of the disease which are not treatable with the currently available drug.
Using the very latest in molecular and cellular biology laboratory techniques, Kayleigh will characterise this novel function of TSC2. If this new function can be characterized and drugs identified to counteract its ill effects, this will open up new avenues for treating those individuals most severely affected by TSC.