Washington University School of Medicine, Department of Pediatrics, St. Louis, MO, USA.
National Institutes of Health, National Heart Lung and Blood Institute, Bethesda, MD, USA.
Matrix Biol. 2018 Oct;71-72:144-160. doi: 10.1016/j.matbio.2018.02.021. Epub 2018 Feb 28.
Elastic fibers provide recoil to tissues that undergo repeated deformation, such as blood vessels, lungs and skin. Composed of elastin and its accessory proteins, the fibers are produced within a restricted developmental window and are stable for decades. Their eventual breakdown is associated with a loss of tissue resiliency and aging. Rare alteration of the elastin (ELN) gene produces disease by impacting protein dosage (supravalvar aortic stenosis, Williams Beuren syndrome and Williams Beuren region duplication syndrome) and protein function (autosomal dominant cutis laxa). This review highlights aspects of the elastin molecule and its assembly process that contribute to human disease and also discusses potential therapies aimed at treating diseases of elastin insufficiency.
弹性纤维为反复变形的组织（如血管、肺和皮肤）提供回弹。纤维由弹性蛋白及其辅助蛋白组成，在有限的发育窗口内产生，稳定数十年。它们最终的分解与组织弹性丧失和衰老有关。弹性蛋白（ELN）基因的罕见改变会通过影响蛋白剂量（主动脉瓣上狭窄、威廉姆斯综合征和威廉姆斯-比伦综合征区域重复综合征）和蛋白功能（常染色体显性皮肤松弛症）导致疾病。本综述重点介绍了弹性蛋白分子及其组装过程的各个方面，这些方面导致了人类疾病，并讨论了旨在治疗弹性蛋白不足疾病的潜在治疗方法。
