Department of Neurology, University of Heidelberg, Heidelberg, Germany.
Cell Mol Life Sci. 2010 Jun;67(11):1799-815. doi: 10.1007/s00018-010-0276-z. Epub 2010 Feb 14.
Arterial dissection (AD) is defined as the longitudinal splitting up of the arterial wall caused by intramural bleeding. It can occur as a spontaneous event in all large and medium sized arteries. The histological hallmark of AD is medial degeneration. Histological investigations, gene expression profiling and proteome studies of affected arteries reveal disturbances in many different biological processes including inflammation, proteolytic activity, cell proliferation, apoptosis and smooth muscle cell (SMC) contractile function. Medial degeneration can be caused by various rare dominant Mendelian disorders. Genetic linkage analysis lead to the identification of mutations in different disease-causing genes involved in the biosynthesis of the extracellular matrix (FBN1, COL3A1), in transforming growth factor (TGF) beta signaling (FBN1, TGFBR1, TGFBR2) and in the SMC contractile system (ACTA2, MYH11). Genome wide association studies suggest that the CDKN2A/CDKN2B locus plays a role in the etiology AD and other arterial diseases.
动脉夹层（AD）是指由于壁内出血导致的动脉壁纵向分裂。它可以作为一种自发性事件发生在所有的大、中动脉中。AD 的组织学特征是中膜退变。对受影响的动脉进行组织学研究、基因表达谱分析和蛋白质组学研究表明，涉及炎症、蛋白水解活性、细胞增殖、细胞凋亡和平滑肌细胞（SMC）收缩功能等多种不同的生物学过程受到干扰。中膜退变可能由多种罕见的显性孟德尔疾病引起。遗传连锁分析导致不同致病基因的突变被鉴定，这些基因参与细胞外基质的生物合成（FBN1、COL3A1）、转化生长因子（TGF）β信号转导（FBN1、TGFBR1、TGFBR2）和 SMC 收缩系统（ACTA2、MYH11）。全基因组关联研究表明，CDKN2A/CDKN2B 基因座在 AD 及其他动脉疾病的病因学中起作用。
