Interdepartmental Program in Vascular Biology and Therapeutics, Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA.
Stroke Vasc Neurol. 2019 Mar 2;4(2):67-70. doi: 10.1136/svn-2018-000195. eCollection 2019 Jul.
Cerebral cavernous malformations (CCMs) are vascular lesions characterised by enlarged and irregular structure of small blood vessels in the brain, which can result in increased risk of stroke, focal neurological defects and seizures. Three different genes, , and are associated with the CCMs' progression, and mutations in one of three CCM genes cause CCM disease. These three CCM proteins have similar function in maintaining the normal structure of small blood vessels. However, mutation results in a more severe form of the disease which may suggest that has unique biological function in the vasculature. The current review focuses on the signalling pathways mediated by CCM3 in regulating endothelial cell junction, proliferation, migration and permeability. These findings may offer potential therapeutic strategies for the treatment of CCMs.
脑 腔 隙 性 动 脉 瘤（CCMs）是一种血管病变，其特征是大脑中小血管的扩大和结构不规则，这可能导致中风、局灶性神经缺陷和癫痫发作的风险增加。三个不同的基因、、和与 CCM 的进展有关，三个 CCM 基因中的一个突变导致 CCM 疾病。这三种 CCM 蛋白在维持小血管的正常结构方面具有相似的功能。然而，突变导致疾病的更严重形式，这可能表明在脉管系统中具有独特的生物学功能。目前的综述重点介绍了 CCM3 通过调节内皮细胞连接、增殖、迁移和通透性来介导的信号通路。这些发现可能为 CCM 的治疗提供潜在的治疗策略。
