Insights Into the Cause of Mitral Valve Prolapse

Insights Into the Cause of Mitral Valve Prolapse

Most cells in the body have a small appendage called a primary cilium. In recent years, a variety of studies have linked the cilium to “the vast majority” of cellular signaling pathways, and cilia dysfunction has been connected with diseases called ciliopathies. Reporting in Science Translational Medicine, scientists have now found that certain genetic mutations that cause ciliary dysfunction in heart valve cells during development can influence mitral valve prolapse. The disorder is thought to impact as many as one in forty people, and this work may help in the development of diagnostic tools.