Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome.
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.
Pober
Barbara R
BR
Department of Pediatrics, MassGeneral Hospital for Children, Simches Research Building, Rm. 222, 185 Cambridge St., Boston, Massachusetts 02114, USA. pober.barbara@mgh.harvard.edu
Johnson
Mark
M
Urban
Zsolt
Z
D000818:Animals; D001011:Aorta / Q000166:cytology / Q000473:pathology; D001808:Blood Vessels / Q000002:abnormalities; D002318:Cardiovascular Diseases / Q000209:etiology* / Q000235:genetics; D004549:Elastin / Q000235:genetics; D006801:Humans; D018980:Williams Syndrome / Q000150:complications* / Q000235:genetics
D004549:Elastin