ELN基因对血管疾病影响的研究进展

Research progress on the influence of ELN gene on vascular diseases

ELN基因位于7q11,参与全身各处细胞外基质中弹性蛋白的合成。血管壁的弹性和抗张能力主要由90%的弹性蛋白和10%的微纤维共同组成的弹性纤维赋予,ELN基因的缺失或异常改变对血管壁的弹性和抗张能力都有显著影响,进而导致以动脉狭窄为特征的不同程度心血管疾病的发生。故本文就近年来国内外对主动脉瓣上狭窄、Williams综合征、收缩期高血压、颅内动脉瘤的研究进展进行简要总结,为探明相应疾病的发病机制以及临床诊疗方向提供切入点及参考。

The ELN gene is located at 7q11 and participates in the synthesis of elastin in the extracellular matrix of various parts of the body.The elasticity and tensile strength of blood vessel walls are mainly endowed by elastic fibers composed of 90%elastin and 10%microfibers.The absence or abnormal changes of ELN genes have a significant impact on the elasticity and tensile strength of blood vessel walls,leading to the occurrence of varying degrees of cardiovascular diseases characterized by arterial stenosis.Therefore,this article briefly summarizes the research progress on superavalvular aortic stenosis,Williams syndrome,systolic hypertension,and intracranial aneurysm both domestically and internationally in recent years,providing a starting point and reference for exploring the pathogenesis and clinical diagnosis and treatment direction of corresponding diseases.