Characterizing the role of Merlin in Schwann cells
Neurofibromatosis type 2 (NF2) gene mutation leads to schwannomas, meningiomas and intramedullary ependymomas of the spinal cord. Schwannomas are Schwann cell tumor which arise from the nerve sheath. Schwannomas account for 6-8% of intracranial neoplasms. Morbidity resulting from schwannomas includes nerve dysfunction and brainstem compression. Merlin, the mutated gene in NF2 patients, encodes a membrane-cytoskeletal linking protein. We have shown dramatic cytoskeletal abnormalities in NF2 schwannomas (benign tumors comprised of Schwann cells). Using human and mouse models of NF2 we aim to understand merlin's role in Schwann cells.
These are alexa-phalloidin-labeled schwannoma cells from human patients. Panel A depicts cells treated with no protein. These cells are exhibiting membrane ruffling commonly associated with schwannoma cells. Panel B depicts cells treated with TAT-merlin isoform 1. Treatment with TAT merlin specifically reverses schwannoma cell membrane ruffling
A Bashour, J Meng, W Ip, M MacCollin, and N Ratner. The neurofibromatosis type 2 gene product, merlin, reverses the F-actin cytoskeletal defects in primary human Schwannoma cells. Mol Cell Biol. 2002 Feb;22(4):1150-7.
