Squeezing the Heart

Around one in every 1,500 babies is born with an atrial septal defect – more commonly known as a ‘hole in the heart’. As a baby grows in the womb, many different types of cells need to work together to build the complex structures of the heart, controlled by multiple genes. This embryonic mouse has a fault in a gene called Nipbl – which is found in human babies with Cornelia de Lange Syndrome, who tend to have holes in their hearts – and has an atrial septal defect. Nipbl is needed not just in the cells that become the heart but also in the tissues growing around it, helping to co-ordinate the size and growth of the heart with the rest of the embryo around it. The discovery reveals vital information about the genetic changes that could be causing atrial septal defects, which could one day be used to help affected families.

Written by Kat Arney

Kat Arney

Writer

Dr Kat Arney is an award-winning science writer, broadcaster and public speaker, and is the founder and Creative Director of First Create The Media.

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• Image by Benedikt Hallgrimsson, University of Calgary, Canada
• Center for Complex Biological Systems, University of California, Irvine, CA, USA
• Image originally published under a Creative Commons Licence (BY 4.0)
• Research published in PLOS Biology, September 2016