Santoro M, Melillo R M, Carlomagno F, Visconti R, De Vita G, Salvatore G, Fusco A, Vecchio G
Centro di Endocrinologia ed Oncologia Sperimentale del CNR/Dipartimento di Biologia e Patologia Cellulare e Molecolare, Universita' di Napoli Federico II, Naples, Italy.
Biochimie. 1999 Apr;81(4):397-402. doi: 10.1016/s0300-9084(99)80087-x.
The RET gene encodes a tyrosine kinase receptor for neurotrophic molecules. RET is a conceptually valuable example of how different mutations of a single gene may cause different diseases. Gene rearrangements activate the oncogenic potential of RET in human thyroid papillary carcinomas. On the other side, different point mutations activate RET in familial multiple endocrine neoplasia syndromes. Finally, inactivating mutations of RET can be present in Hirschsprung's disease patients. The detailed knowledge of the specific RET mutations responsible for human tumors provides relevant tools for the clinical management of these diseases. Moreover, the recent discovery of the growth factors which in vivo stimulate its signaling may shed new light on the role played by RET in the development and differentiation of the central and peripheral nervous system.
RET基因编码一种神经营养分子的酪氨酸激酶受体。RET是一个在概念上很有价值的例子，说明单个基因的不同突变如何导致不同的疾病。基因重排激活了人类甲状腺乳头状癌中RET的致癌潜能。另一方面，不同的点突变在家族性多发性内分泌腺瘤综合征中激活RET。最后，RET的失活突变可能存在于先天性巨结肠病患者中。对导致人类肿瘤的特定RET突变的详细了解为这些疾病的临床管理提供了相关工具。此外，最近发现的在体内刺激其信号传导的生长因子可能会为RET在中枢和外周神经系统发育及分化中所起的作用提供新的线索。
