Work

Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome

Year: 2008

Type: review

Abstract: 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.

Source: Journal of Clinical Investigation

DOI: 10.1172/jci35309

Authors: Barbara R. Pober, Mark Johnson, Zsolt Urban

Institutions: Harvard University, Massachusetts General Hospital, St. Louis Children's Hospital, Washington University in St. Louis

Language: English

Topic: Williams Syndrome Research

Subfield: Developmental Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: American Heart Association, National Institutes of Health, National Heart, Lung, and Blood Institute