Can ‘junk’ DNA help diagnose heart disease?

Published: 9 April 2018

Dr Sarah Appleby describes research into new biomarkers that indicate the presence of heart disease as “turning over rocks to see what is underneath – sometimes there’s nothing but every now and then there is something.”

Recently awarded a two-year Heart Foundation Research Fellowship, she is currently peeking under a very big rock that looks set to produce a world-first ‘something’.

Following completion of her PhD in molecular biology at the University of Otago, Christchurch, Appleby is now with the Christchurch Heart Institute (CHI) exploring a potential source of a new biomarker for heart disease in what was previously thought to be ‘junk DNA’.

With technology advances a constant reality, this ‘junk DNA’ has now been proven to produce functional proteins that have a job to do in the body.

Appleby’s research focuses on one of these proteins, myoregulin, which appears to control calcium levels in muscle cells. Keeping calcium levels balanced in the heart is extremely important for normal heart function – so it is possible myoregulin plays a key role in keeping the heart healthy.

“We are always gaining more knowledge and the tools are advancing, so we can measure new things, it is quite exciting,” says Appleby.

“Our research will measure myoregulin to see if it is altered in patients with heart disease and if it can be used as a new marker to help early diagnosis.”

Can 'junk DNA' help treat heart disease?

There is a further possibility that it could also be used to treat the disease, as well as indicate its presence.

“We are also testing to see if myoregulin will have any protective properties and how it works in a damaged, and healthy, hearts. It could prove to be a treatment for heart disease, which is exciting because there aren’t many therapies out there at the moment.”

If successful, this work will be the first in the world to show that a protein from this ‘junk DNA’ can be used as a risk assessment tool, and possibly a treatment, for cardiovascular disease.

Appleby is grateful her research, alongside other projects at the CHI, is being supported by funding from the Heart Foundation.

“There is no way I could pursue any of these different markers if I didn’t have the funding to do so. We have got good markers at the moment, but we still have groups of people with heart disease who are not getting identified – being able to help these people makes everything worthwhile,” she says.

This talented Kiwi researcher is part of a large team of research experts at the world-renowned CHI, led by the Heart Foundation Chair of Cardiovascular Studies Professor Mark Richards.

His team’s work includes the discovery of the world’s most successful cardiac biomarker, NT-proBNP, which is now used to detect heart disease globally.

He recently led the international coordination of a seven-year research project into heart failure involving 16 New Zealand and Singapore-based heart specialists and researchers. The results, just published in the European Heart Journal look set to alter the worldwide treatment of heart failure.

Appleby’s current myoregulin project is supervised by Associate Professor Chris Pemberton at the CHI.

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