World-wide study reveals new genes for heart function

The way the heart muscle functions appears to be much more complex than previously assumed. This is the conclusion of UCMG Professor of Cardiology Pim van der Harst. He headed 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 were published in the Journal of American College of Cardiology (JACC). This study serves as an important basis for new cardiac research. ‘Every one of the 52 regions we discovered on the DNA is a potential starting point for developing new treatments for heart disease.’

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 his research, Van der Harst and more than a hundred colleagues from 133 research departments, compared the ECGs of patients with their genetic makeup. ‘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

Several research departments of the UMCG took part in this research, which could form the basis for many new research projects and ultimately lead to better treatment for heart problems. ‘We have compiled the results of this research into a genetic library to enable novel heart functionresearch,’ explains Van der Harst. ‘Our next job is to figure out exactly which role each gene plays in the functioning of the heart. With this knowledge, we should be able to develop new, better treatments to prevent or manage heart disease.’

Fruit flies

The researchers have already made a start on trying to figure this out. ‘We’ve tested the relevancy of a number of genes in mice, fruit flies and cells.’ Van der Harst takes fruit flies as an example. ‘By switching genes on and off in fruit flies, we discovered a gene that is involved in the development of the heart. If you switch this gene off, the fruit fly simply doesn’t develop a heart.’ There is also a gene that controls the structure of the cardiac muscle. ‘If you switch this gene off, all the fruit fly’s heart cells are 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. ‘Looking at patients’ genes is becoming common practice. Now we know about these particular genes, we will soon be able to link certain genes to the risk of heart problems. You could use a person’s genetic makeup to predict whether they have a high risk of heart failure, for example, and consider to develop preventive measures. ‘

More than 52 DNA regions

The 52 loci found on the DNA are merely the start of the search for new heart genes. ‘This research looked specifically at the genes involved in myocardial mass. We have now launched a new research project to search for the genes involved in the heartbeat.’ The gene library is set to expand in the years to come, as are the opportunities for improving treatments for heart disease.