Pei Lin, Melmed Shlomo
Department of Endocrinology and Metabolism, Cedars-Sinai Medical Center-UCLA School of Medicine, 90048, Los Angeles, CA.
Endocr Pathol. 1994 Dec;5(4):229-232. doi: 10.1007/BF02921491.
The neurofibromatosis 1 (NF1) gene encodes a protein neurofibromin, which contains a glutamyl transpeptidase (GTP)-activating protein (GAP)-related domain: NF1 GRD. This domain is able to down-regulate P by stimulating its intrinsic GTPase. Because P has an important role in regulating growth and differentiation, somatic mutations in the NF1 gene may result in mutant neurofibromins that might interfere with the Ras signaling pathway and contribute to the development of tumors. In this study, we used polymerase chain reaction (PCR)-coupled single-stranded conformational polymorphism (SSCP) and DNA sequencing to examine possible mutations in the NF1 GRD in human pituitary tumors. We screened 36 nonfunctioning and 20 growth hormone-secreting adenomas. No mutation was detected in these tumors. Our results indicate that inactivation of neurofibromin may not have a primary role in the formation of pituitary adenomas.
神经纤维瘤病1型（NF1）基因编码一种蛋白质神经纤维瘤蛋白，该蛋白含有一个谷氨酰转肽酶（GTP）激活蛋白（GAP）相关结构域：NF1 GRD。该结构域能够通过刺激其内在的GTP酶来下调Ras。由于Ras在调节生长和分化中起重要作用，NF1基因的体细胞突变可能导致突变的神经纤维瘤蛋白，这些蛋白可能会干扰Ras信号通路并促进肿瘤的发生。在本研究中，我们使用聚合酶链反应（PCR）结合单链构象多态性（SSCP）和DNA测序来检测人类垂体肿瘤中NF1 GRD的可能突变。我们筛查了36例无功能腺瘤和20例生长激素分泌性腺瘤。在这些肿瘤中未检测到突变。我们的结果表明，神经纤维瘤蛋白的失活可能在垂体腺瘤的形成中不发挥主要作用。
