Life-threatening gene defect located by UT-Houston r...(eurysms and dissections making it the ma...)

Dr. Milewicz has been an international leader in discovering gene defects that can cause vascular abnormalities, said study co-author Dong Kim, M.D., chairman of the medical schools Department of Neurosurgery and co-director of the Mischer Neuroscience Institute at Memorial Hermann. This recent finding has enormous implications for diseases affecting blood vessels, from the aorta to the arteries in the brain. I believe that Dr. Milewiczs work is going to lead to cures in the near future, and I feel privileged to be able to work with her.

The aorta supplies blood to the rest of the body. Some people develop a progressive degeneration of the aortic wall, leading to a bulging aneurysm, which then can dissect, or tear.

Family members who test positive for the defective gene are encouraged to have routine imaging of their thoracic aortas in order to surgically repair an aneurysm before it dissects or ruptures. If caught early enough, when an aneurysm is 5 centimeters or less, a surgical procedure to replace the diseased portion with a Dacron graft has a high degree of success.

Early in her decade-long research research into the disease, which includes the discovery of two other genes linked to thoracic aortic aneurysms, Milewicz and her team took blood samples from a large family. For years they could not link them to any known gene defects until now.

Milewicz who holds the President George Bush Chair in Cardiovascular Medicine noted that members of this family with a known history of the disease had livedo reticularis, a purplish skin discoloration clearly visible on their arms and legs. Milewicz said that in families with a genetic background of the disease, livedo reticularis is a clinical sign of the disease that can alert physicians that the patient is at a higher risk for thoracic aortic aneurysms and dissections.

ONE FAMILY
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