《生命科学》 2021, 33(1): 44-52

胸主动脉夹层遗传致病因素的研究进展

郭冰冰 , 金介员 , 项　荣^*

中南大学生命科学学院，长沙 410013

摘　要：

胸主动脉夹层(thoracic aortic dissection, TAD)是一类大血管疾病，其突出特点是起病急、进程快、死亡率高，目前尚无有效的早期预警和早期诊断技术，且部分患者首发即为猝死。近年的遗传学研究表明，导致TAD发生的致病基因涉及TGF-β信号通路(TGFBR2、TGFB3、SMAD3等)、细胞外基质(extracellular matrix, ECM)组分(FBN1等)、血管平滑肌细胞(vascular smooth muscle cells, VSMCs)及其收缩元件(ACTA2、MYH11等)等。此外，研究还发现了其他类型的TAD致病基因，如SLC2A10等，暗示了TAD致病机制的复杂性。该综述将对TAD及其相关疾病的临床信息、致病基因和致病机制进行简要的阐述，这有助于人们更好地了解TAD的发生发展，为TAD的预防、治疗和遗传学研究提供帮助。

通讯作者：项　荣 , Email:shirlesmile@csu.edu.cn

The genetic advances of thoracic aortic dissection

GUO Bing-Bing , JIN Jie-Yuan , XIANG Rong^*

School of Life Sciences, Central South University, Changsha 410013, China

Abstract:

Thoracic aortic dissection (TAD) is a group of large vessel diseases characterized by acute onset, rapid progression, and high mortality rates. However, there is no effective early warning and early diagnosis technology, and some patients suffer from sudden death at the first attack. Recent genetic studies have shown that the TAD causative genes involve TGF-β signaling pathway (TGFBR2, TGFB3, SMAD3, etc.), extracellular matrix (ECM) components (FBN1, etc.), vascular smooth muscle cell (VSMCs) and its contractile apparatus (ACTA2, MYH11, etc.) and so on. In addition, other pathogenic genes of TAD, such as SLC2A10, have been identified, suggesting the complexity of TAD pathogenesis. In this review, we briefly describe the clinical information, causative genes and pathogenesis of TAD and its related diseases, which will help us to better understand the occurrence and development of TAD, and to guide the prevention,  treatment and genetic research of TAD.

Communication Author：XIANG Rong , Email:shirlesmile@csu.edu.cn