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AHA: Genetic Disorder Pathway Implicated in Aortic Dissection

Cellular pathway associated with Marfan syndrome protein

THURSDAY, July 31 (HealthDay News) -- Proteins involved in a cellular pathway associated with the genetic connective tissue disorder Marfan syndrome are differentially expressed in patients with acute aortic dissection, according to a study presented July 30 at the American Heart Association meeting in Keystone, Colo.

Salah A. Mohamed, Ph.D., and colleagues from University of SH-Luebeck in Germany identified genes that were differentially expressed in aortic tissue from 19 patients with acute aortic dissection, eight patients with Marfan syndrome, and six patients with no known aortic disease.

After performing pathway analysis of the differentially expressed genes, the researchers identified four differentially expressed proteins in patients with acute aortic dissection that interacted with the Marfan syndrome fibrillen protein: fibulin 1, fibulin 2, decorin, and microfibrillar associated protein 5. Further analysis showed that fibulin 1 and decorin expression, both at the gene and protein level, were significantly lower in patients with acute aortic dissection.

"We provide first evidence that pathway analysis followed by genomics with transcriptional profiling may become a powerful diagnostic tool in acute aortic dissection," Mohamed and colleagues conclude.

Abstract #P131
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