Big-hearted fish reveals genetics of cardiovascular conditioc

"Researchers at the University of Pennsylvania School of Medicine have unlocked the mystery of a puzzling human disease and gained insight into cardiovascular development, all thanks to a big-hearted fish. Mark Kahn, MD, Associate Professor of Medicine, graduate student Benjamin Kleaveland, and colleagues report in the February issue of Nature Medicine that a human vascular condition called Cerebral Cavernous Malformation (CCM) is caused by leaky junctions between cells in the lining of blood vessels. By combining studies with zebrafish and mice, the researchers found that the aberrant junctions are the result of mutated or missing proteins in a novel biochemical process, the so-called Heart-of-glass (HEG)-CCM pathway." - newswise