The Genetic Basis of Aortic Aneurysm
The Genetic Basis of Aortic Aneurysm
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DOI：
10.1101/cshperspect.a015909
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发表时间：
2014-09-01
影响因子：
5.4
通讯作者：
Dietz, Harry C.
中科院分区：
文献类型：
--
作者：
Lindsay, Mark E.;Dietz, Harry C.
人类主动脉瘤疾病的基因鉴定正在快速进行，基于发病机制的管理策略在临床实践中的整合是一个新兴的现实。导致动脉瘤的人类基因改变涉及多种基因产物，包括细胞外基质成分、细胞表面受体、细胞内信号分子和收缩细胞骨架元素。动物模型实验和人类基因发现广泛地涉及转化生长因子- β (tgf - β)细胞因子信号级联在动脉瘤进展中，但许多基因产物之间的机制联系仍然不清楚。本章将整合与主动脉瘤相关的人类遗传改变与当前的基础研究成果，试图形成一个协调的（如果不是统一的）遗传性主动脉瘤模型。
Gene identification in human aortic aneurysm conditions is proceeding at a rapid pace and the integration of pathogenesis-based management strategies in clinical practice is an emerging reality. Human genetic alterations causing aneurysm involve diverse gene products including constituents of the extracellular matrix, cell surface receptors, intracellular signaling molecules, and elements of the contractile cytoskeleton. Animal modeling experiments and human genetic discoveries have extensively implicated the transforming growth factor-beta (TGF-beta) cytokine-signaling cascade in aneurysm progression, but mechanistic links between many gene products remain obscure. This chapter will integrate human genetic alterations associated with aortic aneurysm with current basic research findings in an attempt to form a reconciling if not unifying model for hereditary aortic aneurysm.