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.
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.