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主动脉壁的中膜层由平滑肌细胞(smooth muscle cell,SMC)和弹性纤维交替组成,其对于主动脉弹性和强度至关重要。中膜SMC中的弹性蛋白收缩单元起着连接细胞外的弹性纤维和细胞内的收缩骨架的作用。此弹性收缩单元中的编码结构或者功能蛋白的基因发生突变会导致胸主动脉瘤或夹层。其中编码弹性蛋白纤维和弹性微纤维的基因有FBN1、MFAP5、ELN、FBLN4;编码弹性蛋白收缩单元的基因有ACTA2和MYH11。ACTA2基因编码平滑肌特异的α肌动蛋白;MYH11基因编码SMC特异肌球蛋白重链;而MYLK与PRKG1一起共同编码控制SMC收缩的激酶;FLNA基因编码连接收缩丝和整合素受体的蛋白质,当这些相关基因发生突变时,都将增加发生胸主动脉疾病的倾向性。综上,功能性SMC弹性蛋白收缩单元对于维持主动脉结构的完整性有着重要作用。
The aortic wall of the tunica media is composed of smooth muscle cells (SMC) and elastic fibers, which are crucial for aortic elasticity and strength. The elastin contracting unit in the mesangial SMC functions to connect the extracellular elastic fibers and the intracellular contracting scaffold. A mutation in the gene encoding a structural or functional protein in this elastomeric contraction unit can lead to thoracic aortic aneurysm or dissection. Among them, the genes encoding elastin fibers and elastic microfibers are FBN1, MFAP5, ELN, FBLN4, and the genes encoding elastin contracting units are ACTA2 and MYH11. The ACTA2 gene encodes a smooth muscle specific alpha actin; the MYH11 gene encodes a SMC specific myosin heavy chain; and MYLK together with PRKG1 encodes a kinase that controls SMC contraction; the FLNA gene encodes a protein that links the contractile and integrin receptors, Mutations in these related genes increase the propensity to develop thoracic aortic disease. In summary, the functional SMC elastin contraction unit plays an important role in maintaining the integrity of the aortic structure.