Oxford scientists receive £1m for heart defect research

Scientists awarded nearly £1m to determine the causes of congenital heart disease

Presence of protein shown in green

The British Heart Foundation has given £941,000 to Oxford’s Department of Physiology, Anatomy, and Genetics to research the effect environmental factors have on the development of the heart.

Congenital heart disease (CHD) is a heart condition or defect that develops in the womb before a baby is born.

It is estimated that as many as 1-2 per cent of the UK population may be affected by heart defects, with 4,000 babies being diagnosed with them each year.

While heart defects can be a result of faulty genes inherited from parents, they can also be caused by environmental factors in utero, for example if the mother takes certain medications during pregnancy. However, the biological processes by which these environmental factors cause CHD are not yet known.

Dr. Duncan Sparrow, who is leading the research, has previously shown that low oxygen levels in the womb can lead to heart defects in mice offspring.

To develop properly, heart stem cells require the presence of protein to continue dividing. Lack of oxygen causes a biological response known as the unfolded protein response (UPR), which reduces the amount of protein and stops the heart stem cells dividing.

The lack of new cells results in a heart defect commonly called a “hole in the heart”.

Sparrow believes that UPR could also be triggered by other environmental factors, such as low iron levels, and this is what he will research.

Dr Sparrow told Cherwell: “The funding will be used on a 5 year project, to support me and my research team.

“Congenital heart defects are the most common type of birth defect in humans, with almost 1 in 100 babies born with some type of heart defect. We don’t know why so many babies are born with this condition, so my research is trying to find this out.

“I am focussing on environmental factors that are suspected to cause heart defects. These can include things such as if the mother has diabetes or takes certain medications while pregnant. Such factors can increase the risk of having a baby with a heart defect by up to 10 times the normal rate! How environmental factors cause CHD is unknown, so I will use mouse models to investigate.

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“If successful, we will be able to better identify environmental risk factors for having a child with a heart defect, and also we will be able to give better advice to women planning pregnancy on how to reduce these risks.

“Ultimately, it may even help design treatments so that fewer babies are born with heart defects, perhaps in the same way that folate supplementation is used today to reduce the number of babies born with spina bifida.”

Dr Noel Faherty, Senior Research Advisor at the BHF, said: “We have known for decades that environmental factors can affect the proper formation of the infant heart, but we know very little about the mechanics of how this occurs.

“This project will provide us with new insight as to why so many children are born every year with a heart problem.

“Research like this is the foundation on which improvements in the prevention and treatment of heart conditions are built. It’s only thanks to the generosity of the public that we can fund the science that offers to opportunity to save and improve lives.”