Hovens C M, Kaye A H
Department of Surgery, Royal Melbourne Hospital, University of Melbourne, Parkville, Victoria, 3052, Australia.
J Clin Neurosci. 2001 Jan;8(1):4-7. doi: 10.1054/jocn.2000.0784.
Neurofibromatosis type 2 (NF2) is a dominantly inherited disease characterized by the formation of bilateral acoustic schwannomas and other benign tumours associated with the central nervous system. The NF2 protein, also known as merlin or schwannomin, is a recently cloned tumour suppressor and is mutated or inactivated in most schwannomas and meningiomas. Homology analysis indicates that merlin is most closely related to members of the protein 4.1 superfamily especially ezrin, radixin and moesin, the ERM proteins. ERM proteins link membrane proteins to the cytoskeleton. It has been speculated that disruption of a similar membrane-linking role for merlin is involved in the development of tumours. This review focuses on what is now known of the organization and role of merlin's functional domains and how its activity might be regulated. Recent evidence of post-translational regulatory mechanisms which offer hope for new drug intervention strategies to help alleviate this debilitating disease are asses sed.
2型神经纤维瘤病（NF2）是一种常染色体显性遗传病，其特征是双侧听神经鞘瘤以及与中枢神经系统相关的其他良性肿瘤的形成。NF2蛋白，也称为默林蛋白或施万瘤蛋白，是一种最近克隆出的肿瘤抑制因子，在大多数神经鞘瘤和脑膜瘤中发生突变或失活。同源性分析表明，默林蛋白与4.1蛋白超家族的成员，尤其是埃兹蛋白、根蛋白和膜突蛋白（ERM蛋白）关系最为密切。ERM蛋白将膜蛋白与细胞骨架连接起来。据推测，默林蛋白类似的膜连接作用的破坏与肿瘤的发生有关。本综述重点关注目前已知的默林蛋白功能域的结构和作用，以及其活性可能如何被调节。评估了翻译后调控机制的最新证据，这些证据为新的药物干预策略带来了希望，有助于缓解这种使人衰弱的疾病。
