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 Zebrafish's near 360 degree UV-vision knocks stripes off Google Street View
22.06.2018 | University of Sussex

nachricht New cellular pathway helps explain how inflammation leads to artery disease
22.06.2018 | Cedars-Sinai Medical Center

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Temperature-controlled fiber-optic light source with liquid core

In a recent publication in the renowned journal Optica, scientists of Leibniz-Institute of Photonic Technology (Leibniz IPHT) in Jena showed that they can accurately control the optical properties of liquid-core fiber lasers and therefore their spectral band width by temperature and pressure tuning.

Already last year, the researchers provided experimental proof of a new dynamic of hybrid solitons– temporally and spectrally stationary light waves resulting...

Im Focus: Overdosing on Calcium

Nano crystals impact stem cell fate during bone formation

Scientists from the University of Freiburg and the University of Basel identified a master regulator for bone regeneration. Prasad Shastri, Professor of...

Im Focus: AchemAsia 2019 will take place in Shanghai

Moving into its fourth decade, AchemAsia is setting out for new horizons: The International Expo and Innovation Forum for Sustainable Chemical Production will take place from 21-23 May 2019 in Shanghai, China. With an updated event profile, the eleventh edition focusses on topics that are especially relevant for the Chinese process industry, putting a strong emphasis on sustainability and innovation.

Founded in 1989 as a spin-off of ACHEMA to cater to the needs of China’s then developing industry, AchemAsia has since grown into a platform where the latest...

Im Focus: First real-time test of Li-Fi utilization for the industrial Internet of Things

The BMBF-funded OWICELLS project was successfully completed with a final presentation at the BMW plant in Munich. The presentation demonstrated a Li-Fi communication with a mobile robot, while the robot carried out usual production processes (welding, moving and testing parts) in a 5x5m² production cell. The robust, optical wireless transmission is based on spatial diversity; in other words, data is sent and received simultaneously by several LEDs and several photodiodes. The system can transmit data at more than 100 Mbit/s and five milliseconds latency.

Modern production technologies in the automobile industry must become more flexible in order to fulfil individual customer requirements.

Im Focus: Sharp images with flexible fibers

An international team of scientists has discovered a new way to transfer image information through multimodal fibers with almost no distortion - even if the fiber is bent. The results of the study, to which scientist from the Leibniz-Institute of Photonic Technology Jena (Leibniz IPHT) contributed, were published on 6thJune in the highly-cited journal Physical Review Letters.

Endoscopes allow doctors to see into a patient’s body like through a keyhole. Typically, the images are transmitted via a bundle of several hundreds of optical...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Munich conference on asteroid detection, tracking and defense

13.06.2018 | Event News

2nd International Baltic Earth Conference in Denmark: “The Baltic Sea region in Transition”

08.06.2018 | Event News

ISEKI_Food 2018: Conference with Holistic View of Food Production

05.06.2018 | Event News

 
Latest News

Graphene assembled film shows higher thermal conductivity than graphite film

22.06.2018 | Materials Sciences

Fast rising bedrock below West Antarctica reveals an extremely fluid Earth mantle

22.06.2018 | Earth Sciences

Zebrafish's near 360 degree UV-vision knocks stripes off Google Street View

22.06.2018 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>