The way the heart muscle functions appears to be much more complex than previously assumed. This is the conclusion of a world-wide study in which data from 73,518 individuals from all across the world were used to search for new heart genes.

The results have been published in the Journal of the American College of Cardiology. This study serves as an important basis for new cardiac research.

An ECG of a patient’s heart enables cardiologists to identify abnormalities in the muscle mass and pulse conduction of the heart. These abnormalities are often a forewarning of heart failure and eventual death. In the research, Dr Yalda Jamshidi of St George’s, University of London and more than a hundred colleagues from 133 research departments compared the ECGs of patients with their genetic makeup.

Dr Jamshidi, Senior Lecturer in Human Genetics, said: ‘This allowed us to discover 52 regions where 67 genes are located, which we now think are involved in the functioning of the cardiac muscle. We already knew that some of these genes cause serious cardiac diseases, but we did not realise that the majority of them also play a role in the way the heart functions.’

Gene library

The research could form the basis for many new research projects and ultimately lead to better treatment forheart problems. ‘The results of this research has been compiled into a genetic library to enable novel heart function research by us and other groups,’ explained Dr Jamshidi. ‘The next step is to figure out exactly which role each gene plays in the functioning of the heart. With this knowledge, we hope to be able to develop new, better treatments to prevent or manage heart disease.’

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Fruit flies

The researchers have already made a start on this, testing the relevancy of certain genes in fruit flies. By switching genes on and off in fruit flies, they discovered a gene that is involved in the development of the heart. If this gene is switched off, the fruit fly does not develop a heart. Another gene controls the structure of the cardiac muscle; and if this is switched off, the fruit fly’s heart cells will be dispersed randomly.

Predicting the course of heart disease

Although it will probably take at least ten years to develop new drugs on the basis of this large-scale research, many patients might still benefit in the short term. Dr Jamshidi said: ‘Looking at patients’ genes is becoming common practice. Our hope is that by looking at these particular genes, we will be able to link certain genes to the risk of heart problems. This would allow clinicians to use a person’s genetic makeup to predict whether they have a high risk of heart failure, for example, and consider developing preventative measures. ‘


Source: St. George’s University of London

Research Reference:

  1. Pim van der Harst et al. 52 Genetic Loci Influencing Myocardial Mass, Journal of the American College of Cardiology (2016). DOI: 10.1016/j.jacc.2016.07.729