Genes May Predict Vascular Malformation
Released: 1/15/2009 3:05 PM EST
Embargo expired: 1/29/2009 3:00 PM EST
Source: Medical College of Wisconsin
Newswise — A pair of studies, led by Medical College of Wisconsin scientists at Children's Research Institute in Milwaukee, may translate into rapid molecular tests to distinguish between hemangiomas and congenital blood or lymph vessel malformations in infants. Hemangiomas are common birthmarks consisting of benign tumors of blood vessels. The studies appear in the January 29, 2009 issue of the journal Blood.
"Our findings may lead to earlier diagnosis, precise classification and ultimately, targeted therapy for infants with hidden congenital vascular malformations," says study author Ramani Ramchandran, Ph.D., associate professor of pediatrics in the division of developmental biology.
In the first paper, the team used genetic manipulations to study blood vessel formation in the fast-developing and conveniently transparent zebra fish embryo. They identified sucrose non-fermenting receptor kinase-1 (Snrk-1), as a gene that plays a role in the creation, migration and differentiation into arteries and veins of angioblasts, the parent cell of all blood vessels.
In the second paper, similar zebra fish embryo studies revealed that Dusp-5, a vascular-specific gene that is expressed in these parent cells and in the established blood vessels, counteracts the function of Snrk-1 to control the population of parent cells. Most importantly, the team then identified mutations in Dusp-5 and Snrk-1 genes in the affected tissues of humans with vascular malformations, thus linking the Snrk-1/Dusp-5 signaling pathway to human disease.
"However, the truth in science ultimately emerges, although sometimes it takes a very long time," Arthur Silverstein, Autoimmunity: A History of the Early Struggle for Recognition