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Electrifying findings –

Identification of genetic factors that affect signal propagation in the heart

Munich, 11/18/2010

A large-scale international collaboration involving more than 100 researchers has identified more than 20 regions in the human genome that have a significant influence on the process that transmits the electrical impulses that control heartbeat. The findings are based on a genome wide association study of electrocardiography recordings from nearly 50,000 subjects, carried out by a team led by Dr. Nona Sotoodehnia of the University of Washington in Seattle, Dr. Stefan Kääb of LMU Munich and Dr. Dan E. Arking of Johns Hopkins University in Baltimore, Maryland. The results of the study provide new insights into heart function and how it can go wrong. (Nature Genetics online, 14 November 2010)

In a healthy heart electrical signals that originate in specialised muscle cells are propagated through the myocardium and control its rhythmic contractions. When this process is disturbed, an artificial pacemaker may have to be implanted to regularize the heartbeat. Otherwise the resulting arrhythmias can lead to cardiac insufficiency and sudden death. It has long been known that heritable factors play a part in regulating the electrical activity of the heart. For example, genetic variations can alter aspects of signal propagation from the physiological pacemaker. The large-scale study just published has identified 22 novel genes that affect impulse conduction in the heart.

Some of these factors actually play a role in the prenatal development of the heart itself. “Errors in early developmental steps can result in malformations of the heart tissue,“ says Kääb. Taken together, the new genetic data should help molecular biologists to obtain a better understanding of the complex signal pathways that underlie normal heart function. A comprehensive picture of the relevant genetic mechanisms should, in turn, provide insights into the basis of the physiological defects that arise in the malfunctioning heart, and enable pharmacologists to design more effective therapies for these – often life-threatening – conditions.

In addition to teams based at LMU, the Technical University of Munich and the Helmholtz Center Munich, scientists from more than 50 other research institutions around the world contributed to the project. Support for the work at LMU was provided by the National Genome Research Network (NGFN), the Federal Ministry of Education and Research (BMBF), the Investment Fund established as part of the LMU’s Excellence Initiative, and other sources. (suwe)


"Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction"
Sotoodehnia N, et al.,
Nature Genetics online, 14 November 2010

Privatdozent Dr. Stefan Kääb
Klinikum der Universität München
Phone: 089 / 7095-3049

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