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1型神经纤维瘤(NF1)是常见的神经系统遗传病,NF1基因突变导致神经纤维蛋白失活或表达下调从而产生以神经纤维瘤为主要特征的一系列神经皮肤损害及合并各种良性和恶性肿瘤。NF1为肿瘤抑制基因,是RAS的负向调节器。NF1相关的肿瘤或NF1缺陷小鼠细胞中神经纤维蛋白的不表达与RAS的活性增加和细胞增殖的增多有关。除神经纤维蛋白介导的RAS活性和神经纤维瘤及相关肿瘤发生之间具有直接的病理生理联系外,其它基因协同的遗传学变化能加速肿瘤的发生,同时修饰基因也能影响对肿瘤的易感性。
Type 1 neurofibromatosis (NF1) is a common neurodegenerative disease, NF1 gene mutation leads to inactivation or down-regulation of nerve fiber protein, resulting in a series of neuro-skin lesions characterized by neurofibromatosis and a combination of benign and malignant Tumor. NF1 is a tumor suppressor gene and is a negative regulator of RAS. The lack of expression of neurofibrils in NFl-associated tumors or NFl-deficient mouse cells is associated with increased activity of RAS and increased cell proliferation. In addition to the direct pathophysiological link between neurofibrin-mediated RAS activity and neurofibromatosis and related oncogenesis, genetic synergies with other genes can accelerate tumorigenesis, while modifying genes can also affect the susceptibility to tumors Sensual.