ROLE OF SNF5 IN SCHWANN CELL TUMORIGENENSIS

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This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Schwannomatosis is a disease characterized by severe intractable pain associated with multiple peripheral nerve tumors, called schwannomas. These tumors arise from abnormal Schwann cells, which form the myelin sheaths of peripheral nerves. Recent studies linked mutations in a gene, SNF5, to schwannomatosis. We are testing if mutations in this gene are sufficient to cause schwannomas or at least increased Schwann cell division in mice. This grant, which provides two summers of training for a high school teacher from the greater Portland, Oregon area, will test if Schwann cells from mice with Schwann cell-targeted Snf5 mutations show abnormal levels of cell proliferation or if these cells have other abnormal features, including the expression of proteins involved in neuropathic pain. The long-term goal of these studies is to test if mice with targeted Snf5 mutations can serve as models of schwannomatosis in humans.