A French-American team of researchers have identified a gene linked to a new syndrome which can manifest itself in complications as serious as thoracic aortic disease and intracranial brain aneurysms.
The team hailed from the University of Texas Health Science Center at Houston (UTHealth), Public Assistance – Paris Hospitals, and the National Institute of Health and Medical Research (INSERM).
Researchers conducted a genome-wide analysis of two biologically unrelated families from the United States and France. The analysis found mutations in transforming growth factor beta-2 (TGFB2), which is key in forming the cells that line the walls of arteries. Such mutations can affect the ability of the lining cells to work properly, creating symptoms like groin hernias, sacs formed by the lining of the abdominal cavity; pectus deformities, in which the sternum is depressed or raised, which causes the torso to look hollow or pushed out; joint hyperflexibility, or loose joints; mitral valve prolapse, where the valve, which separates the upper and lower chambers of the left side, does not close properly; and stretch marks. More severely, the syndrome can also lead to aortic aneurysms and dissections, as well as intracranial aneurysms.
Aneurysms are the ballooning or widening of a piece of an artery due to the weakening of a portion of the wall. Aortic aneuryms occur in the aorta in the chest; intracranial aneurysms occur in the brain.
Eight thousand people die annually from thoracic aortic aneurysms and dissections. Intracranial aneurysms occur in 6 percent of adults. Both types of aneurysms are usually asymptomatic until ruptures occur. Intracranial aneurysms can become hemorrhagic strokes, when they rupture and bleed into the brain, and end in mortality 50 percent of the time.
Dianna Milewicz, Ph.D., President George H. W. Bush Chair in Cardiovascular Research and director of the Division of the Division of Medical Genetics at UTHealth, is excited about the findings, and hope that it can be used to discern sufferers of the syndrome before a dreaded aneurysm.
This is the fifth gene defect that scientists have found that can lead to the two aneurysms. The discovery of the genes linked to aneurysms can lead to better screening methods to identify those at greater risk for aneurysms earlier.