CCM3基因与血管相关疾病的研究进展

Research progress of links between CCM3 gene and vascular related diseases

CCM3(Cerebral caverrnous malformation 3,CCM3)是脑海绵状血管瘤(Cerebral cavernous malformation,CCMs)的第3个致病基因,对血管生成发育和维持血管完整性有重要作用。研究表明,CCM3基因突变可引起多种血管病变,该基因在血管相关疾病诊治中的作用存在挖掘潜力。本文综述了CCM3基因调控细胞增殖、凋亡、迁移、细胞力学、紧密连接和炎症反应等机制及其影响血管相关疾病的作用,为探索血管疾病的CCM3基因治疗手段提供思路。

Cerebral caverrnous malformation 3(CCM3) is the third pathogenic gene of cerebral cavernous hemangioma(CCMs), which plays an important role in angiogenesis and vascular integrity. Studies have shown that mutations in CCM3gene can cause multiple vascular diseases. Therefore, this gene has potential in the diagnosis and treatment of vascular related diseases. This review summarizes the mechanisms by which the CCM3 gene regulates cell proliferation, apoptosis,migration, cell mechanics, tight junctions, and inflammatory responses, and influencing the effects of vascular related diseases and providing insights into the means of CCM3 gene therapy for vascular diseases.