Gutmann D H
Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Semin Pediatr Neurol. 1998 Dec;5(4):276-86. doi: 10.1016/s1071-9091(98)80006-5.
Neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC) represent two neurocutaneous disorders in which affected individuals develop tumors at an increased frequency. Although the clinical manifestations of these disorders are distinctive, the identification of the genes responsible for these disorders has demonstrated remarkable similarities on a molecular level between the NF1 and TSC tumor suppressor gene products. The NF1 and TSC2 gene products are hypothesized to function as growth regulators by modulating the activities of small GTPase molecules. The overlap between the functions of these tumor suppressor genes has yielded important insights into the molecular pathogenesis underlying each of these disorders and suggested possible pharmacological therapies specifically targeted for affected individuals.
1型神经纤维瘤病（NF1）和结节性硬化症（TSC）是两种神经皮肤疾病，患病个体发生肿瘤的频率会增加。尽管这些疾病的临床表现各不相同，但对导致这些疾病的基因的鉴定表明，NF1和TSC肿瘤抑制基因产物在分子水平上有显著的相似性。据推测，NF1和TSC2基因产物通过调节小GTPase分子的活性来发挥生长调节因子的作用。这些肿瘤抑制基因功能之间的重叠为深入了解每种疾病的分子发病机制提供了重要线索，并提示了可能针对患病个体的特异性药物治疗方法。
