马凡综合征胸主动脉病变的分子机制研究进展  

Advances in molecular mechanisms of thoracic aorta disease in Marfan syndrome

作　　者：高秋月 赵一铭 于宝琪 GAO Qiuyue;ZHAO Yiming;YU Baoqi(Department of Physiology and Pathophysiology,School of Basic Medicine,Capital Medical University,Beijing 100069,China;The Key Laboratory of Cardiovascular Remodeling-related Diseases,Ministry of Education&Beijing Key Laboratory of Metabolic Disorder Related Cardiovascular Disease,Beijing 100069,China)

机构地区：[1]首都医科大学基础医学院生理学与病理生理学系,北京市100069 [2]心血管重塑相关疾病教育部重点实验室,代谢紊乱相关心血管疾病北京市重点实验室,北京市100069

出　　处：《中国动脉硬化杂志》2024年第8期645-653,共9页Chinese Journal of Arteriosclerosis

基　　金：国家自然科学基金资助项目(32271231和81870186)。

摘　　要：胸主动脉瘤/夹层是马凡综合征(MFS)患者主要的死亡原因。尽管转化生长因子β(TGF-β)通路的异常激活被认为是MFS胸主动脉瘤的核心发病机制,但近些年来的研究逐渐揭示了其他信号通路在MFS中的作用。本文将从经典TGF-β以及Notch、一氧化氮(NO)等相关信号通路、表观遗传学及药物基因治疗等多方面最新研究的成果综述MFS的分子机制,为MFS的预防和治疗提供新的思路。Aortic aneurysm/dissection is the primary cause of mortality in patients with Marfan syndrome(MFS).Though aberrant activation of the transforming growth factor-β(TGF-β)pathway has been considered the central pathogenic mechanism for MFS aortic aneurysms,recent research has gradually revealed the involvement of other signaling pathways in MFS.This review summarizes the latest researches on the molecular mechanisms of MFS,including classical TGF-βand related signaling pathways such as Notch and nitric oxide(NO),as well as epigenetics and gene therapy,which provide new insights for the prevention and treatment of MFS.

关 键 词：马凡综合征 胸主动脉瘤 胸主动脉夹层 转化生长因子Β 基质金属蛋白酶 

分 类 号：R543[医药卫生—心血管疾病]