‘Silent’ Mutation Could Put You At Heart Failure Risk

Seemingly healthy individuals could be primed for heart failure if they carry this common mutation.

AsianScientist (Nov. 28, 2016) – A common mutation could leave the heart ‘primed to fail,’ according to a new multinational study by researchers from Singapore, the UK and Germany. Their results, published in Nature Genetics, suggest that a mutation previously thought only to affect patients with a common inherited heart disease also predispose apparently healthy people to heart failure.

Mutations in a protein called titin are linked to dilated cardiomyopathy, a condition in which the heart muscle becomes weakened, enlarged and cannot pump blood efficiently. Dilated cardiomyopathy is a type of inherited cardiac condition and affects about 1 in 250 people worldwide. However, around one per cent of the world’s population carry this genetic mutation with no apparent effect, puzzling scientists.

To understand the role of titin mutations in heart disease, researchers from Duke-NUS Medical School studied 2,495 patients with dilated cardiomyopathy. They also generated two rat models to understand the impact of these mutations on the molecular level and heart function. In addition, cardiac gene sequencing tests were performed in 1,409 healthy volunteers, coupled with 2D and 3D cardiac magnetic resonance imaging (MRI) that gave high resolution information on the heart size and shape of the study subjects.

They found that those with mutations had an enlarged heart, in a pattern similar to that seen in heart failure patients. As many as 35 million people around the world who also carry these ‘silent’ mutations could be adversely affected, with hearts that might fail when faced with a second genetic or environmental hit.

“We now know that the heart of a healthy individual with titin gene mutation lives in a compensated state and that the main heart pumping chamber is slightly bigger,” said study co-senior author Professor Stuart Cook, Tanoto Foundation Professor of Cardiovascular Medicine at the SingHealth Duke-NUS Academic Medical Centre.

“Our next step is to find out the specific genetic factors or environmental triggers, such as alcohol or viral infection that may put certain people with titin mutations at risk of heart failure.”

Patients with inherited cardiac conditions can undergo a cardiac genetic test that will screen them for 174 genes to diagnose the exact condition and gene, and prescribe effective treatment, the researchers added.


The article can be found at: Schafer et al. (2016) Titin-truncating Variants Affect Heart Function in Disease Cohorts and the General Population.

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Source: Duke-NUS Medical School; Photo: Shutterstock.
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