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Gene for a 'heavy heart' found in rodents

10 October 2011
Appeared in BioNews 628

A gene has been associated with thickening of the heart which increases chances of heart failure. Researchers at Imperial College London found that faults in the gene called endocuclease G or 'Endog' influences the thickness of the muscular heart wall, how effectively the heart pumps blood and how much fat accumulates in the heart.

Professor Stuart Cook, the study's lead researcher, said: 'Our study shows that the Endog gene, which was previously thought to be involved in cell death, actually plays an important role in the enlargement of the heart which can lead to heart failure and eventually death in the worst cases. We found that a faulty copy of this gene causes the heart to become thick and fatty, making it 'heavy' with poor function'.

'It does this by interfering with the heart cells' energy source – the mitochondria. Like any other muscle in our body, the heart needs energy to keep it pumping. If the mitochondria don't work properly, the heart struggles to make enough energy and the cells produce toxic by-products, called reactive oxidative species, which increase thickening of the heart wall', explained Professor Cook.

Previous research has linked heart wall thickening with several sections of the genetic code, but this study, published in the journal Nature, was the first to isolate a single gene using DNA sequencing approaches.

While the results were obtained from experiments in rodents, the researchers are optimistic that the gene will also be linked to heart function in humans. They are currently recruiting healthy men and women to take part in a study aiming to replicate the finding in humans.

Medical director of the British Heart Foundation, Professor Peter Weissberg, said: 'The finding could pave the way for new treatments to prevent the development of a heavy heart. Hopefully, in the future, we'll be able to target the root cause of some patients' heart conditions rather than treating the resulting symptoms'.

There is much room for improvement in current treatment for heart failure as up to 40 percent of people diagnosed with heart failure die within a year of diagnosis. Heart failure has a lower survival rate than many cancers and it affects more than 750,000 people in Britain alone.

Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function
Nature |  5 October 2011
Having a 'heavy heart' that is more likely to fail may be in the genes
Daily Mail |  5 October 2011
Scientists identify genetic link for a ‘heavy heart’
Imperial College London |  5 October 2011
The cause of a ‘heavy heart’
British Heart Foundation |  5 October 2011
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