You're reading...
UTHealth Researchers Link PRKG1 Genetic Mutation to Thoracic Aortic Disease
HOUSTON – (Aug. 7, 2013) – 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). (more…)
Recent Posts
- Actor Alan Thicke: Another Prominent Hollywood Figure Known To Have Died of An Acute Aortic Dissection
- Two Months, Two Genes
- New ACTA2 Research from the John Ritter Research Program
Follow us on: