ROLE OF SNF5 IN SCHWANN CELL TUMORIGENENSIS

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 神经鞘瘤病是一种以严重的顽固性疼痛为特征的疾病，与多发性周围神经肿瘤相关，称为神经鞘瘤。这些肿瘤是由形成周围神经髓鞘的异常雪旺细胞产生的。最近的研究将SNF5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神经鞘瘤或至少增加雪旺细胞分裂。这笔赠款为俄勒冈州大波特兰地区的一名高中教师提供了两个夏天的培训，将测试具有雪旺细胞靶向Snf5突变的小鼠的雪旺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，包括参与神经病理性疼痛的蛋白质的表达。这些研究的长期目标是测试携带靶向Snf5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.