Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Mutation Causes Heart Muscle Disorder - Researchers in Berlin und Boston Detect Genetic Defect

04.12.2006
A mutation in a gene responsible for the adhesion of adjacent cells of the heart is the cause of a potentially lethal heart muscle disorder.

The evidence has been provided by a team of researchers including Dr. Arnd Heuser of the Max Delbrück Center of Molecular Medicine (MDC) Berlin-Buch, Germany, Dr. Eva R. Plovie of the Massachusetts General Hospital (MGH) in Boston, USA, and Professor Ludwig Thierfelder (MDC and Helios Klinikum Berlin/Charité) and Dr. Brenda Gerull (MDC).

The scientists searched selectively mutations in the gene Desmocollin-2 (DSC2) in a pool of 88 unrelated patients suffering from arrhythmogenic right ventricular cardiomyopathy (ARVC) and discovered a mutation that causes this cardiomyopathy. By switching off the gene in zebrafish embryos, they demonstrated that DSC2 is essential for normal mycardial structure and function. Their work has now been published in the American Journal of Human Genetics (Vol. 79, pp. 1081-1088, 2006).*

Heart-muscle disorders (cardiomyopathies) are prevalent worldwide but their origins are widely unknown. During the course of the arrhythmogenic right ventricular cardiomyopathy (ARVC), ?brofatty and connective tissue replacement takes place in the right ventricular myocardium. This leads to a dysfunction of the heart-muscle which can result in arrhythmia and cardiac insufficiency. The consequence is an increased risk of sudden cardiac death, even in young people.

... more about:
»ARVC »DSC2 »Mutation

The heart of an adult beats about seventy-times in a minute or around 100,000 times a day. It is, therefore, exposed to high mechanical strains. Desmosomes are mechanical structures that keep the cells bound together as if connected with push buttons so that they will not rip while beating.

In collaboration with researchers from the University Hospital of Münster, Dr. Heuser (MDC) and Dr. Plovie (MGH) searched for genetic defects in the desmosomes within a pool of 88 unrelated patients. They searched for a mutation in the gene that carries the information for the protein Desmocollin-2 (DSC2) which is part of the desmosome structure. Mutations of other desmosomal proteins have previously been detected for ARVC. Therefore, the Berlin- and Boston-based researchers assumed that mutations in DSC2 could result in ARVC, too.

Dr. Heuser and Dr. Plovie could now demonstrate that the mutation in DSC2 gene results in a reduced DSC2 protein which causes ARVC. Furthermore, the switch off of the DSC2 in zebrafish embryos showed that DSC2 is necessary for normal embryonic cardiac development. In an adult organism, a lack of DSC2 leads to disordered heart contraction and difficulties in the conduction system of the heart.

Barbara Bachtler | alfa
Further information:
http://www.mdc-berlin.de
http://www.mdc-berlin.de/englisch/about_the_mdc/public_relations/e_index.htm

Further reports about: ARVC DSC2 Mutation

More articles from Life Sciences:

nachricht At last, butterflies get a bigger, better evolutionary tree
16.02.2018 | Florida Museum of Natural History

nachricht New treatment strategies for chronic kidney disease from the animal kingdom
16.02.2018 | Veterinärmedizinische Universität Wien

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Demonstration of a single molecule piezoelectric effect

Breakthrough provides a new concept of the design of molecular motors, sensors and electricity generators at nanoscale

Researchers from the Institute of Organic Chemistry and Biochemistry of the CAS (IOCB Prague), Institute of Physics of the CAS (IP CAS) and Palacký University...

Im Focus: Hybrid optics bring color imaging using ultrathin metalenses into focus

For photographers and scientists, lenses are lifesavers. They reflect and refract light, making possible the imaging systems that drive discovery through the microscope and preserve history through cameras.

But today's glass-based lenses are bulky and resist miniaturization. Next-generation technologies, such as ultrathin cameras or tiny microscopes, require...

Im Focus: Stem cell divisions in the adult brain seen for the first time

Scientists from the University of Zurich have succeeded for the first time in tracking individual stem cells and their neuronal progeny over months within the intact adult brain. This study sheds light on how new neurons are produced throughout life.

The generation of new nerve cells was once thought to taper off at the end of embryonic development. However, recent research has shown that the adult brain...

Im Focus: Interference as a new method for cooling quantum devices

Theoretical physicists propose to use negative interference to control heat flow in quantum devices. Study published in Physical Review Letters

Quantum computer parts are sensitive and need to be cooled to very low temperatures. Their tiny size makes them particularly susceptible to a temperature...

Im Focus: Autonomous 3D scanner supports individual manufacturing processes

Let’s say the armrest is broken in your vintage car. As things stand, you would need a lot of luck and persistence to find the right spare part. But in the world of Industrie 4.0 and production with batch sizes of one, you can simply scan the armrest and print it out. This is made possible by the first ever 3D scanner capable of working autonomously and in real time. The autonomous scanning system will be on display at the Hannover Messe Preview on February 6 and at the Hannover Messe proper from April 23 to 27, 2018 (Hall 6, Booth A30).

Part of the charm of vintage cars is that they stopped making them long ago, so it is special when you do see one out on the roads. If something breaks or...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

2nd International Conference on High Temperature Shape Memory Alloys (HTSMAs)

15.02.2018 | Event News

Aachen DC Grid Summit 2018

13.02.2018 | Event News

How Global Climate Policy Can Learn from the Energy Transition

12.02.2018 | Event News

 
Latest News

Fingerprints of quantum entanglement

16.02.2018 | Information Technology

'Living bandages': NUST MISIS scientists develop biocompatible anti-burn nanofibers

16.02.2018 | Health and Medicine

Hubble sees Neptune's mysterious shrinking storm

16.02.2018 | Physics and Astronomy

VideoLinks
Science & Research
Overview of more VideoLinks >>>