Described a molecular alteration associated with tuberous sclerosis and mTOR


Tuberous sclerosis (TSC, tuberous Sclerosis complex) is an uncommon genetic disease that causes benign tumors (called hamartomas) in the brain and other vital organs. In most cases there is involvement of the central nervous system with the appearance of cortical tuber, leading to various mental illnesses.

Coordinated by the breast cancer research group leader, Miquel Angel Pujana, this international study describes a molecular alteration in the mTOR signaling pathway in TSC patients that may be of interest from the point of therapeutically. Investigators associate the overactivation of the mTOR signaling patwway with an anomaly microtubule cytoskeleton that may explain why cells not oriented and well differentiated , either in the brain (in the case of the TSC) or epithelial tissues. mTOR pathway is abnormally overactive in many cancers , including breast cancer , and the molecular mechanism identified open new therapeutic options for these cases . The work, which was carried out in collaboration with the director of the Institute of Neuropathology IDIBELL, Isidre Ferrer, has been published in The Journal of Pathology.

Ferrer I., Mohan P., Chen H., Castellsagué J., Gómez-Baldó L., Carmona M., García N., Aguilar H., Jiang J., Skowron M., Nellist M., Ampuero I., Russi A., Lázaro C., Maxwell C. and Pujana M.A. Tubers from patients with Tuberous Sclerosis Complex are characterized by changes in microtubule biology through ROCK2 signalling. The journal of Pathology. DOI: 10.1002/path.4343.

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