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Mutation in mouse circulatory gene mimics a form of congenital heart disease

the newly formed blood vessels, including the pulmonary artery, the carotid artery, and the aorta," notes Parmacek. "These were all consistent with the defects observed later on that caused the embryos not to survive after birth."

Overall, the researchers demonstrated that the cardiac neural crest cells that originate in the brain do migrate to the heart and outflow tract areas; but, unlike in normal mice, the cells with mutations did not differentiate into smooth muscle cells. As a result, the cells did not form the structure that separates the aorta from the pulmonary artery.

"This is the first evidence that a block in stem-cell differentiation is responsible for forms of congenital heart disease," says Parmacek. "Understanding how MRTF-B works will let us see how this critical junction in the development of the circulatory system regulates how tissues unfold downstream."


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Contact: Karen Kreeger
karen.kreeger@uphs.upenn.edu
215-349-5658
University of Pennsylvania School of Medicine
7-Jun-2005


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