Neurofibromatosis type 2 (NF2) gene mutation leads to schwannomas (Schwann cell tumors). Schwannomas account for 6 percent to 8 percent of intracranial neoplasms. Morbidity resulting from schwannomas can include 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 cellular human and mouse models of NF2, we aim to understand merlin’s role in Schwann cells. In 2019, Dr. Robert Hennigan extended this line of investigation, showing identifying Merlin-proximal proteins that are components of or associated with cell junctions and focal adhesions, using a technique called proximity biotinylation. He also identified a novel merlin-interacting protein, Tpbp53/Aspp2, which is under current investigation.