Neurofibromatosis type 2 (NF2) gene mutation leads to schwannomas, meningiomas and intramedullary ependymomas of the spinal cord. Schwannomas are Schwann cell tumors that arise from the nerve sheath. Schwannomas account for 6 percent to 8 percent 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.