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Recently, researchers at the University of Texas Medical Branch at Galveston (UTMB) have released new information about the catastrophic rupture of the aorta known as an aortic dissection. Now, new world leading research published today in the American Journal of Human Genetics by Professor Dianna Milewicz from the University of Texas Health Science Center in Houston reveals that a mutation in the gene, PRKG1 is a major player in familial thoracic heart disease. The mutation in this gene, which encodes a protein called cGMP-dependant kinase, alters its ability to effectively regulate heart muscle cells responding to pulsating blood flow from the heart. This study is unique in that this mutation, being only one base pair out of the three billion base pairs that make up our DNA, was identified in four unrelated families of different ethnicities,.

Dr. Milewicz, whose multi-institutional team identified this mutation, commented that this mutation causes the normal functioning of this protein to become unregulated, and continually active, “almost like the brakes have failed on a car and it cannot stop!”

Knowing that this gene defect could have serious life threatening consequences provides tools to allow families to make important medical decisions following genetic testing such as aortic surveillance and elective surgery.

Every year, more than 15,000 people in the United States die when an aneurysm bursts or dissects. Aortic aneurysms are insidious because they creep up on the sufferer silently and painlessly. The blood vessel weakens without pain and ruptures can kill instantly. Research suggests that up to 20% of cases of aneurysms are hereditary and up to nine genes have already been identified that are linked to familial thoracic heart disease.