Professor Richard Harvey, Dr Romaric Bouveret and Dr Ashley Waardenberg

Protein Network Breakthrough

Scientists identify a new network of proteins that are linked to congenital heart disease, which affects 42 babies every week in Australia

14 December 2017

Protein network breakthrough brings scientists closer to cracking childhood heart disease.

For the first time, scientists have identified a new network of proteins that are linked to congenital heart disease, which affects 42 babies born every week in Australia.

Scientists at the Victor Chang Cardiac Research Institute are trying to understand why some babies are born with a hole in the wall of their heart – the most common form of all birth defects.

Researchers have now unearthed a network of unique proteins that could help us understand how congenital heart disease develops. They did this by examining a key protein called NKX2-5, essential for normal heart formation, which led them to uncover the new network.

Professor Richard Harvey, Dr Romaric Bouveret and Dr Ashley Waardenberg

Lead investigators on the study, Professor Richard Harvey, Dr Romaric Bouveret from the Victor Chang Institute and Dr Ashley Waardenberg, from the Children’s Medical Research Institute, worked tirelessly on the project to make the discovery.

“It was very surprising because we thought we knew everything about this protein since it’s been intensely studied for over two decades... but now we’re realising there’s still much more we can learn.

“While we knew these proteins existed, what hasn’t been shown is that they actually interact with each other and form a network that is important for heart development,” explained Dr Bouveret.

This breakthrough brings scientists one step closer to identifying the point at which abnormalities in the heart occur.

Scientists worked for two years on this project using a new computational method to predict protein interactions. They achieved this by developing a novel ‘machine learning’ approach to find and extract new patterns from large data sets.

Female scientist looking at a petri dish

“By using advanced computer technology to search for patterns in DNA sequences, we are the first people to systematically show that you can predict new protein interactions,” revealed Dr Waardenberg.

The implications of this finding are three-fold. Firstly, scientists now have greater insight into understanding why malformations occur in the hearts of 1 in 100 babies.

Secondly, it has opened up a whole new research area into the role vitamin A signalling plays in normal heart development, together with the protein NKX2-5.

On top of that, computational biologists will now be able to apply this new technique of sifting through large quantities of data, to all diseases.

“Ultimately, our goal is to better understand heart development so that when something goes wrong and the heart doesn’t form properly in the womb, we can find solutions to fix the problem,” added Dr Waardenberg.

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Acknowledgement of Country

The Victor Chang Cardiac Research Institute acknowledges Traditional Owners of Country throughout Australia and recognises the continuing connection to lands, waters and communities. We pay our respect to Aboriginal and Torres Strait Islander cultures; and to Elders past and present.

Victor Chang Cardiac Research Institute - The Home of Heart Research for 30 Years