Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

New genetic cause of cardiac failure discovered

27.11.2009
Unstable structural elements of the heart muscle lead to heart failure / Heidelberg cardiologists publish in Nature Medicine

Over the course of a lifetime, the heart pumps some 250 million liters of blood through the body. In the order to do this, the muscle fibers of the heart have to be extremely durable. The research group headed by Dr. Wolfgang Rottbauer, vice chair of the Department of Medicine III at Heidelberg University Hospital (Chairman: Prof. Dr. H. A. Katus), has discovered a protein that is responsible for the stability of the smallest muscular unit, the sarcomere.

In cooperation with other researchers within the National Genome Research Network (NGFN) which is funded by the German Federal Ministery of Education and Research, especially Prof. Dr. H. Schunkert from the University of Lübeck and Prof. Dr. M. Stoll from the University of Münster, they proved that mutations of this protein are the cause of a new type of heart failure. The results have been published in the November issue of Nature Medicine.

Primary heart muscle disease with decreased cardiac pump function leading to enlargement of the heart chambers (dilated cardiomyopathy) is one of the most frequent causes of chronic heart failure. Six new cases per 100,000 people occur each year; 20 percent of these cases are genetic. The heart disease weakens cardiac cells and the heart can no longer pump efficiently which leads to dilation of the cardiac chambers.

Muscle activity takes place in the smallest unit of muscle fiber, the sarcomere. In the presence of an appropriate stimulus, actin and myosin filaments interact and contract the muscle. These movable elements are anchored in what are known as Z-disks. With every heartbeat, enormous forces act on the Z-disks.

Torn Z disks weaken the heart

“In our studies of zebrafish, we discovered a protein that is needed to stabilize the Z-disk. If this protein (nexilin) is mutated, the movable muscle elements are no longer anchored firmly enough. The muscles then lose strength and the heart is weakened,” explains Dr. Tillman Dahme, resident and co-author of the study. The researchers examined the genetic material of affected patients and verified a mutated Z-disk protein in 9 of 1000 participants. They showed that in these patients, the defective nexilin was the major cause of heart disease. “The nexilin dilated cardiomyopathy allowed us for the first time to describe a new form of heart muscle dilatation and define the mechanism causing it, namely destabilization of the Z-disk,” says Dahme.

The studies also showed that the extent of the damage to the Z-disk is directly related to the workload. This insight has an influence on clinical therapy. “Patients with a nexilin mutation might benefit from early treatment with medications that reduce cardiac stress. This could lower the mechanical stress on the Z-disks and prevent progressive damage to the heart,” said Dr. Rottbauer.

Literature:

Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. David Hassel, Tillman Dahme, Jeanette Erdmann, Benjamin Meder, Andreas Huge, Monika Stoll, Steffen Just, Alexander Hess, Philipp Ehlermann, Dieter Weichenhan, Matthias Grimmler, Henrike Liptau, Roland Hetzer, Vera Regitz-Zagrosek, Christine Fischer, Peter Nürnberg, Heribert Schunkert, Hugo A Katus & Wolfgang Rottbauer, Nature Medicine 15, 1281 - 1288 (2009), published online 1 Nov 2009, DOI 10.1038/nm.2037

Contact person:
PD Dr. med. Wolfgang Rottbauer
Department of Medicine III – Cardiology
Heidelberg University Hospital
Im Neuenheimer Feld 410
69120 Heidelberg
phone: +49 6221 / 56 38851
fax: +49 6221 / 56 48 66
e-mail: wolfgang.rottbauer@med.uni-heidelberg.de
Heidelberg University Hospital and Medical Faculty:
Internationally recognized patient care, research, and teaching
Heidelberg University Hospital is one of the largest and most prestigious medical centers in Germany. The Medical Faculty of Heidelberg University belongs to the internationally most renowned biomedical research institutions in Europe. Both institutions have the common goal of developing new therapies and implementing them rapidly for patients. With about 7,000 employees, training and qualification is an important issue. Every year, around 500,000 patients are treated on an inpatient or outpatient basis in more than 40 clinics and departments with 1,600 beds. Currently, about 3,100 future physicians are studying in Heidelberg; the reform Heidelberg Curriculum Medicinale (HeiCuMed) is one of the top medical training programs in Germany.

Requests by journalists:

Dr. Annette Tuffs
Head of Public Relations and Press Department
University Hospital of Heidelberg and
Medical Faculty of Heidelberg
Im Neuenheimer Feld 672
D-69120 Heidelberg
Germany
phone: +49 6221 / 56 45 36
fax: +49 6221 / 56 45 44
e-mail: annette.tuffs(at)med.uni-heidelberg.de

Dr. Wolfgang Rottbauer | EurekAlert!
Further information:
http://dx.doi.org/10.1038/nm.2037
http://www.klinikum.uni-heidelberg.de/Rottbauer-Lab.110535.0.html?&L=en

More articles from Life Sciences:

nachricht The birth of a new protein
20.10.2017 | University of Arizona

nachricht Building New Moss Factories
20.10.2017 | Albert-Ludwigs-Universität Freiburg im Breisgau

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Neutron star merger directly observed for the first time

University of Maryland researchers contribute to historic detection of gravitational waves and light created by event

On August 17, 2017, at 12:41:04 UTC, scientists made the first direct observation of a merger between two neutron stars--the dense, collapsed cores that remain...

Im Focus: Breaking: the first light from two neutron stars merging

Seven new papers describe the first-ever detection of light from a gravitational wave source. The event, caused by two neutron stars colliding and merging together, was dubbed GW170817 because it sent ripples through space-time that reached Earth on 2017 August 17. Around the world, hundreds of excited astronomers mobilized quickly and were able to observe the event using numerous telescopes, providing a wealth of new data.

Previous detections of gravitational waves have all involved the merger of two black holes, a feat that won the 2017 Nobel Prize in Physics earlier this month....

Im Focus: Smart sensors for efficient processes

Material defects in end products can quickly result in failures in many areas of industry, and have a massive impact on the safe use of their products. This is why, in the field of quality assurance, intelligent, nondestructive sensor systems play a key role. They allow testing components and parts in a rapid and cost-efficient manner without destroying the actual product or changing its surface. Experts from the Fraunhofer IZFP in Saarbrücken will be presenting two exhibits at the Blechexpo in Stuttgart from 7–10 November 2017 that allow fast, reliable, and automated characterization of materials and detection of defects (Hall 5, Booth 5306).

When quality testing uses time-consuming destructive test methods, it can result in enormous costs due to damaging or destroying the products. And given that...

Im Focus: Cold molecules on collision course

Using a new cooling technique MPQ scientists succeed at observing collisions in a dense beam of cold and slow dipolar molecules.

How do chemical reactions proceed at extremely low temperatures? The answer requires the investigation of molecular samples that are cold, dense, and slow at...

Im Focus: Shrinking the proton again!

Scientists from the Max Planck Institute of Quantum Optics, using high precision laser spectroscopy of atomic hydrogen, confirm the surprisingly small value of the proton radius determined from muonic hydrogen.

It was one of the breakthroughs of the year 2010: Laser spectroscopy of muonic hydrogen resulted in a value for the proton charge radius that was significantly...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ASEAN Member States discuss the future role of renewable energy

17.10.2017 | Event News

World Health Summit 2017: International experts set the course for the future of Global Health

10.10.2017 | Event News

Climate Engineering Conference 2017 Opens in Berlin

10.10.2017 | Event News

 
Latest News

Terahertz spectroscopy goes nano

20.10.2017 | Information Technology

Strange but true: Turning a material upside down can sometimes make it softer

20.10.2017 | Materials Sciences

NRL clarifies valley polarization for electronic and optoelectronic technologies

20.10.2017 | Interdisciplinary Research

VideoLinks
B2B-VideoLinks
More VideoLinks >>>