Bicuspid aortic valve (BAV), the most common heart valve birth defect, is associated with genetic variation in human primary cilia during heart valve development, report Medical University of South Carolina researchers in Circulation. Crucial to cilia development is the exocyst, which shuttles cilia cargo to the cell membrane. Disrupting the exocyst impaired ciliogenesis and caused a spectrum of cardiac defects in zebrafish and BAV in mice. The findings could inspire new therapeutic strategies.
- Veterans Affairs, National Institutes of Health, American Heart Association