Study: new gene variations affecting heart rate to serve as a basis for a better treatment and prevention of heart disease
An international gene study involving more than 180,000 people that was conducted with the help of University of Tartu researchers identified a number of new gene variations affecting the heart rate. The newly found sequence variations and genes improve our understanding of the molecular mechanisms regulating heart function and hopefully lead to the development of new medicinal products for irregular heartbeat. The study also included the data of 5500 gene donors of the Estonian Genome Centre, University of Tartu.
Researchers at the UT Estonian Genome Centre in cooperation with their colleagues from a large multinational consortium studied more than 180,000 people from all over the world to examine the differences in heart rate among people and identified 14 new genome areas that affect it. The study confirmed the connection of seven previously known DNA sequence variations to the heart rate; combined, they increase the heart rate by about five beats per minute. The results of the study help to better understand the molecular background of the heart’s working mechanism, providing options for a better treatment and prevention of heart disease.
In contrast to the standard analyses of patients, the study focused on healthy volunteers with no cardiovascular complications. The researchers examined the effect of the gene variants on the heart rate, which is a well-known risk factor for the development of several kinds of heart disease.
According to Tõnu Esko, one of the lead authors of the study and a research fellow at the UT Estonian Genome Centre, it is no surprise that the effect of the identified DNA sequence variations on the heart rate is not great, while the personal risk assessments based on genetic characteristics are becoming increasingly accurate precisely thanks to such international surveys. The study also assessed the role of the found DNA sequence variations among other parameters characterising heart function and identified a connection with several EKG statistics, while also identifying a heightened risk for the development of irregular heartbeat. “The found genome areas include several promising candidate genes for understanding the molecular mechanisms behind heart rate, and a potential future medicinal product affecting the biological mechanism identified by the study might prove an effective remedy for this disease in the future,” Esko says of the significance of the study.
The researchers conducted gene inactivation experiments on two model organisms, the fruit fly and the zebrafish, and demonstrated the role of at least 20 genes in the regulation of heart rate, the transfer of nerve signal, and the embryonic development of the heart. According to Esko, this shows that the genes identified using statistics and bioinformatics are not just a noise in the data but actually affect the development and function of the heart in different model organisms to a significant degree.
In the course of the study, the data of 181,171 people were analysed; the international cooperation project involved a total of 268 researchers from 211 research institutions and six multinational consortiums.
An article on the recent gene study was published in the journal Nature Genetics on Sunday, 14 April.