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Australian scientists have found a genetic mutation which could explain the mystery of why some babies are born with a hole in their heart.
The team from the Garvan Institute and Victor Chang Cardiac Research Institute discovered that mice bred without a particular molecule, called CXCR7, are very likely to be born with a similar heart defect that affects human babies.
"It's a great tragedy when children need open heart surgery almost as soon as they are born," said Professor Fabienne Mackay, director of the Garvan's Autoimmunity Research Unit.
"We are very hopeful that our discovery of the actions of one molecule, CXCR7, may help prevent this surgery in the future."
The researchers investigated the little known molecule, a so-called chemokine receptor that helps cells migrate to specific parts of the body during its development. Cells lured towards the chemokine will then develop into brain cells, bone cells, or heart valve cells, depending on what the body needs.
The scientists bred lab mice without this special receptor and found the pups died the day they were born as a result of catastrophic heart defects. The missing receptor may be equally critical for the formation of the heart valve in humans.
-AAP
