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Birthmark or Blood Vessel Problem?

THURSDAY, Jan. 29 -- Genetics may help doctors tell sooner whether common birthmarks will become serious vascular malformations, a new study says.

"Our findings may lead to earlier diagnosis, precise classification and, ultimately, targeted therapy for infants with hidden congenital vascular malformations," study author Ramani Ramchandran, associate professor of pediatrics in the division of developmental biology at Medical College of Wisconsin, said in a news release issued by the school.

In two studies published in the Jan. 29 issue of Blood, researchers found that two genes -- Dusp-5 and Snrk-1 -- play a role in blood vessel formation.

"We believe that specific mutations in Dusp-5 and Snrk-1 may provide keys to distinguish between hemangiomas [birthmarks] and vascular malformations," Ramchandran said. "Vascular malformations fall into different classes based on the affected vessel type. For example, venous malformations affect veins, and arterial malformations affect arteries. Mutations in Snrk-1 may actually help classify vascular malformations as venous or lymphatic malformations and thus distinguish them from other malformations."

The studies were done in zebra fish embryos, and the team then identified similar mutations in human tissue, according to the release. The pathway these genes follow in people has not been discovered, according to Ramchandran, who indicated that such a finding could be the breakthrough needed to identify causes of vascular malformation.

Future research will try to quantify what role the mutations have on predicting the condition as well as its severity, while exploring what cell type harbors the mutation, he said.

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Posted: January 2009