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UTHealth, French researchers discover gene defect for new syndrome
Date:7/9/2012

HOUSTON (July 9, 2012) Research teams from The University of Texas Health Science Center at Houston (UTHealth) and Paris, France have discovered a gene defect linked to a cluster of systemic complications, including life-threatening thoracic aortic disease and intracranial aneurysms. The new syndrome is similar, but distinct from known syndromes such as Marfan and Loeys-Dietz syndrome.

Genome-wide analysis of two unrelated families, one in the United States and one in France, identified mutations in transforming growth factor beta-2 (TGFB2), which plays a key role in the formation of cells in the walls of arteries. These changes can affect the ability of these cells that line the aorta and other blood vessels to function properly, leading to aortic aneurysms and dissections and intracranial aneurysms. Other systemic signs of the new syndrome include groin hernias, pectus deformities, joint hyperflexibility, mitral valve prolapse and skin stretch marks.

The findings were published in the July 8 online of the journal Nature Genetics. The French team included researchers from the Assistance Publique Hopitaux de Paris and the Institut National de la Sante et de la Recherche Medicle (INSERM).

"Identifying this gene as a cause of aortic and intracranial aneurysms can tell us who is at risk in a family before these aneurysms cause an acute aortic dissection or stroke," said Dianna Milewicz, M.D., Ph.D., professor, the President George H.W. Bush Chair in Cardiovascular Research and director of the Division of Medical Genetics at the UTHealth Medical School. "If we know who is at risk, we can prevent these life-threatening complications of these aneurysms before they occur and prevent premature death or disability."

Milewicz is the senior author of the paper, a multi-institutional collaboration. The lead author is Catherine Boileau of INSERM.

Incorrect function of the cells can cause a weakness in the wall of the t
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Contact: Deborah Mann Lake
deborah.m.lake@uth.tmc.edu
713-500-3030
University of Texas Health Science Center at Houston
Source:Eurekalert

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