Yuan Shi-Min
The First Hospital of Putian, Putian, China.
Braz J Cardiovasc Surg. 2015 Nov-Dec;30(6):644-9. doi: 10.5935/1678-9741.20150081.
α-smooth muscle actin, encoded by ACTA2 gene, is an isoform of the vascular smooth muscle actins, typically expressed in the vascular smooth muscle cells contributing to vascular motility and contraction. ACTA2 gene mutations cause a diversity of diffuse vasculopathies such as thoracic aortic aneurysms and dissections as well as occlusive vascular diseases, including premature coronary artery disease and ischemic stroke. Dynamics of differentiation-specific α-smooth muscle actin in arterial smooth muscle cells and proliferation of the proteins have been well described. Although a variety of research works have been undertaken in terms of modifications of α-smooth muscle actin and mutations of ACTA2 gene and myosin, the underlying mechanisms towards the pathological processes by way of gene mutations are yet to be clarified. The purpose of the present article is to describe the phenotypes of α-smooth muscle actin and implications of ACTA2 mutations in vasculopathies in order to enhance the understanding of potential mechanisms of aortic and coronary disorders.
α平滑肌肌动蛋白由ACTA2基因编码，是血管平滑肌肌动蛋白的一种异构体，通常在血管平滑肌细胞中表达，有助于血管运动和收缩。ACTA2基因突变会导致多种弥漫性血管病变，如胸主动脉瘤和夹层以及闭塞性血管疾病，包括早发性冠状动脉疾病和缺血性中风。动脉平滑肌细胞中分化特异性α平滑肌肌动蛋白的动态变化以及这些蛋白质的增殖已得到充分描述。尽管在α平滑肌肌动蛋白的修饰、ACTA2基因和肌球蛋白的突变方面已经开展了各种研究工作，但通过基因突变导致病理过程的潜在机制仍有待阐明。本文的目的是描述α平滑肌肌动蛋白的表型以及ACTA2突变在血管病变中的意义，以增进对主动脉和冠状动脉疾病潜在机制的理解。
