ROLE OF SNF5 IN SCHWANN CELL TUMORIGENENSIS

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 神经鞘瘤病是一种与多发性周围神经肿瘤相关的严重顽固性疼痛的疾病，称为神经鞘瘤。这些肿瘤起源于异常的雪旺细胞，雪旺细胞形成周围神经的髓鞘。最近的研究将SNF 5基因突变与神经鞘瘤病联系起来。 我们正在测试该基因的突变是否足以导致小鼠的神经鞘瘤或至少增加许旺细胞分裂。这项拨款为来自俄勒冈州大波特兰地区的高中教师提供了两个夏天的培训，将测试来自Schwann细胞靶向Snf 5突变小鼠的Schwann细胞是否显示出异常的细胞增殖水平，或者这些细胞是否具有其他异常特征，包括参与神经性疼痛的蛋白质的表达。 这些研究的长期目标是测试具有靶向Snf 5突变的小鼠是否可以作为人类神经鞘瘤病的模型。

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.