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Matrix Biol. 2018 Oct;71-72:144-160. doi: 10.1016/j.matbio.2018.02.021. Epub 2018 Feb 28.

Elastin-driven genetic diseases.

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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. Electronic address:


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.


Autosomal dominant cutis laxa; Elastin; Emphysema; Supravalvar aortic stenosis; Williams Beuren duplication syndrome; Williams Beuren syndrome

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