Javier Vargas Medrano - Review: The molecular mechanisms of neurofibromatosis type 2

Version 1

      Publication Details (including relevant citation   information):

    Sierra-Fonseca, A. J. Vargas-Medrano, J., and Plenge-Tellechea, L. F. (2012). Review: The molecular mechanisms of neurofibromatosis type 2. Tecnociencia Chihuahua. 6(1):33-48.

      Abstract:

      In this   work, we presented a review over the most relevant information of   the neurofibromatosis type 2 (NF2), which is a dominant autosomal   disorder characterized by the presence of bilateral vestibular   schwannomas. Other tumors such as meningiomas and ependymomas may   be present. The disease is caused by mutations in the   NF2 gene, which encodes a protein known as merlin or   schwannomin. Merlin is structurally related to the ERM   (Ezrina-Radixina-Moesina) family of proteins,   a group of molecules responsible for linking the signals coming   from the plasma membrane glycoproteins with the actin   cytoskeleton. The NF2 gene is considered as a tumor   suppressor gene, and the evidence indicates that merlin functions   by regulating cell growth and proliferation. However, the   mechanisms through which merlin functions as a tumor suppressor   remain enigmatic. Several molecules that interact with merlin   have been identified. This has provided clues to determine the   cellular processes in which merlin participates. These molecules   include structural proteins, plasma membrane receptors, cytosolic   proteins, GTPases, and cytoskeletal adapters. Mutations in the   NF2 gene affect merlin functionality, altering merlin’s   mechanism of action, giving rise to NF2. More studies are   necessary to determine the precise role of merlin on the control   of cell proliferation.

      Address (URL): http://tecnociencia.uach.mx/numeros/v6n1/data/Revision_Mecanismos_moleculares_de _la_neurofibromatosis_tipo_2.pdf