A multi-institutional team led by Dianna Milewicz, M.D., Ph.D., of The University of Texas Health Science Center at Houston (UTHealth) has found a recurrent genetic mutation that has been linked to deadly thoracic aortic dissections in family members as young as 17 years of age.  The gene known as PRKG1 makes a protein called cGMP-dependent kinase, type I.  The PRKG1 mutation alters the function of the protein and causes the muscle cells in the wall of the aorta to respond incorrectly to pulsatile blood flow from the heart, and the change in this one protein ultimately causes thoracic aortic aneurysm and acute aortic dissection.  The mutation was identified in four families, including three in the United States.  The majority of the affected family members suffered acute aortic dissections at young ages (17 to 51 years).

Milewicz is professor and director of the Division of Genetics at the UTHealth Medical School and holds the President George H.W. Bush Chair in Cardiovascular Research.  She is also on the faculty of The University of Texas Graduate School of Biomedical Sciences and director of the The John Ritter Research Program in Aortic and Vascular Diseases.  Co-authors and investigators included teams from University of California at San Diego, Institut National de la Sante et de la Recherche Medicále of France, University of Washington, Baylor College of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada, and the GenTAC Registry Consortium.  Read more here:  http://www.johnritterresearchprogram.org/?p=1046