November 18, 2010
Rare Mutations Linked With Catastrophic Aortic Aneurysms
TAAD causes thousands of deaths in the United States each year. Although timely surgical repair of aneurysms can prevent death, thoracic aneurysms are often asymptomatic until dissection (tearing of the vessel wall), and there are few recognized risk factors that can be used for screening. "Prospective identification of patients at risk for TAAD using a genetic strategy will be critical to prevent sudden deaths from this treatable disease," explains senior study author Dr. John W. Belmont from Baylor College of Medicine.
To begin to unravel the genetic origins of TAAD, lead author Dr. Siddharth Prakash and colleagues at Baylor and Dr. Dianna Milewicz and colleagues at the University of Texas Health Science Center in Houston performed a genome-wide analysis of hundreds of sporadic TAAD cases. The researchers identified 47 copy-number variant (CNV) regions in the TAAD samples when compared with control samples. A CNV is an excess or absence in copies of a particular gene. Previous research has demonstrated that CNVs are linked with many different human diseases.
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