Pober Barbara R, Johnson Mark, Urban Zsolt
Department of Pediatrics, MassGeneral Hospital for Children, Simches Research Building, Rm. 222, 185 Cambridge St., Boston, Massachusetts 02114, USA.
J Clin Invest. 2008 May;118(5):1606-15. doi: 10.1172/JCI35309.
Williams-Beuren syndrome (WBS) is a microdeletion disorder caused by heterozygous loss of approximately 1.5-Mb pairs of DNA from chromosome 7. Patients with WBS have a characteristic constellation of medical and cognitive findings, with a hallmark feature of generalized arteriopathy presenting as stenoses of elastic arteries and hypertension. Human and mouse studies establish that defects in the elastin gene, leading to elastin haploinsufficiency, underlie the arteriopathy. In this review we describe potential links between elastin expression and arteriopathy, possible explanations for disease variability, and current treatment options and their limitations, and we propose several new directions for the development of nonsurgical preventative therapies based on insights from elastin biology.
威廉姆斯-贝伦综合征（WBS）是一种微缺失疾病，由7号染色体上约150万个DNA碱基对的杂合性缺失引起。WBS患者具有一系列典型的医学和认知表现，其标志性特征是全身性动脉病变，表现为弹性动脉狭窄和高血压。人和小鼠的研究表明，弹性蛋白基因缺陷导致弹性蛋白单倍剂量不足，是动脉病变的基础。在这篇综述中，我们描述了弹性蛋白表达与动脉病变之间的潜在联系、疾病变异性的可能解释、当前的治疗选择及其局限性，并基于弹性蛋白生物学的见解提出了几种非手术预防性治疗方法的新发展方向。
