HOUSTON (Nov. 18, 2010) Discovery of a fifth gene defect and the identification of 47 DNA regions linked to thoracic aortic disease are the subject of studies released this month involving researchers at The University of Texas Health Science Center at Houston (UTHealth).
In both studies, the investigators have identified alterations in the genetic material or DNA that affect the ability of smooth muscle cells, which line the aorta and other blood vessels, to contract. This can lead to a weakening of the wall of the aorta, the main blood vessel leading out of the heart. One of the studies was published in the November issue and the other was published online today in the American Journal of Human Genetics.
"Both discoveries are more confirmation of the role that proper contraction of smooth muscle cells has on the aorta and they increase our knowledge of the pathway of the disease," said Dianna M. Milewicz, M.D., Ph.D., a senior author of both studies, professor and the President George H.W. Bush Chair in Cardiovascular Research and director of the Division of Medical Genetics at The University of Texas Medical School at Houston, part of UTHealth. "That allows us to figure out how to potentially block or reverse the disease, which is our ultimate goal."
In thoracic aortic disease, the deterioration of the wall of the aorta can cause an aneurysm, or ballooning of the vessel, that can lead to dissection or rupture and sudden death. If caught early enough, people with the familiar genetic defect can take medications and/or undergo surgery to repair the damage. An estimated 8,000 people die annually from thoracic aortic disease.
Using the UTHealth database of more than 600 families affected by thoracic aortic disease, Milewicz and her research team members have previously identified four gene defects associated with the familial form of the disease, which runs in families. Of people who have the disease, 20 percent hav
|Contact: Deborah Mann Lake|
University of Texas Health Science Center at Houston