Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Mutations Induce Severe Cardiomyopathy

04.06.2008
Mutations in three genes that are important for heart contraction can induce left ventricular noncompaction (LVNC), a special form of cardiomyopathy.

This was a key finding from current research conducted by Dr. Sabine Klaassen, Susanne Probst, and Prof. Ludwig Thierfelder of the Max Delbrück Center for Molecular Medicine (MDC) Berlin-Buch, Prof. Erwin Oechslin (Adult Congenital Cardiac Centre, Toronto, Canada) and Prof. Rolf Jenni (Cardiovascular Center, Zürich, Switzerland).

In LVNC, the myocardial tissue of the left ventricle takes on a sponge-like appearance and protrudes into the ventricle which can greatly impair the pumping performance of the heart.

Of the 63 LVNC patients studied, the scientists found 11 patients (17 percent) with several myocardial gene mutations. The researchers suspect that these genetic mutations can trigger severe cardiomyopathy. In the future, genetic testing can determine whether individual family members of the affected patients also carry this mutation and are, thus, predisposed to LVNC. The results of the study have just been published in the journal Circulation (2008, Vol. 117, pp. 2893-2901)*.

... more about:
»Genetic »Klaassen »LVNC »MD1 »MD4 »Muscle »myocardial

The heart muscle makes the heart beat about seventy times per minute, thus providing the entire body with oxygen and nutrients. Dysfunction of the heart muscle may lead to cardiac arrhythmia, cardiac insufficiency, and even heart failure.

In LVNC, a disease which was just discovered a few years ago, the left ventricle of the heart resembles that of an embryo. Since the disease can also occur in small children, scientists assumed it was a developmental disorder of the heart muscle tissue.

Now, Dr. Klaassen and her colleagues have been able to show that the disease is due to a genetic defect and is thus a familial disease. It affects genes whose proteins are responsible for contraction and, thus, for the pumping function of the heart muscle, i.e. genes encoding beta-myosin heavy chain, alpha-cardiac actin, and troponin T.

Genetic testing on individual families showed that the probability of an affected parent passing on the gene mutations to his or her children is 50 percent. "That is why gene testing of these families is so important," Dr. Klaassen said.

If a gene test turns out to be negative, the tested person can be certain that he or she will not get LVNC. But if the test is positive, the implication is not so clear. "As a consequence of the altered heart muscle tissue, the affected person may develop functional myocardial impairment later in life," Dr. Klaassen explained.

However, a mutation in these genes need not inevitably lead to myocardial insufficiency. "We examined a 70-year-old patient who did not show any symptoms of the disease although she had the mutation," the cardiologist added. "Apparently, other genetic factors, as well as environmental factors, like a healthy lifestyle, influence the manifestation of the disease."

*Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction

Sabine Klaassen, MD1,2*; Susanne Probst, MSc1*; Erwin Oechslin, MD3; Brenda Gerull, MD1, Gregor Krings, MD2; Pia Schuler, MD4; Matthias Greutmann, MD4; David Hürlimann, MD4; Mustafa Yegitbasi5, MD; Lucia Pons, MD6, Michael Gramlich, MD1; Jörg-Detlef Drenckhahn, MD1; Arnd Heuser, MD1, Felix Berger, MD2,5; Rolf Jenni, MD4; Ludwig Thierfelder, MD1,7

1)Max-Delbrück-Center for Molecular Medicine, Berlin, Germany; 2)Clinic of Pediatric Cardiology, Charité, Humboldt University Berlin, Germany; 3)Adult Congenital Cardiac Centre at Peter Munk Cardiac Centre, University Health Network/Toronto General Hospital, Toronto, Canada; 4)Cardiovascular Center, Division of Echocardiography, University Hospital Zürich, Zürich, Switzerland; 5)Department of Congenital Heart Defects/Pediatric Cardiology, German Heart Institute Berlin, Berlin, Germany; 6)Ospedale Regionale di Mendrisio Beata Vergine, Mendrisio, Switzerland; 7)Helios Clinic Berlin-Buch, Charité, Humboldt University Berlin, Germany

Barbara Bachtler
Press and Public Affairs
Max Delbrück Center for Molecular Medicine (MDC) Berlin-Buch
Robert-Rössle-Str. 10
13125 Berlin
Germany
Phone: +49 (0) 30 94 06 - 38 96
Fax: +49 (0) 30 94 06 - 38 33
e-mail: presse@mdc-berlin.de

Barbara Bachtler | idw
Further information:
http://www.mdc-berlin.de/en/news

Further reports about: Genetic Klaassen LVNC MD1 MD4 Muscle myocardial

More articles from Life Sciences:

nachricht Transport of molecular motors into cilia
28.03.2017 | Aarhus University

nachricht Asian dust providing key nutrients for California's giant sequoias
28.03.2017 | University of California - Riverside

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: A Challenging European Research Project to Develop New Tiny Microscopes

The Institute of Semiconductor Technology and the Institute of Physical and Theoretical Chemistry, both members of the Laboratory for Emerging Nanometrology (LENA), at Technische Universität Braunschweig are partners in a new European research project entitled ChipScope, which aims to develop a completely new and extremely small optical microscope capable of observing the interior of living cells in real time. A consortium of 7 partners from 5 countries will tackle this issue with very ambitious objectives during a four-year research program.

To demonstrate the usefulness of this new scientific tool, at the end of the project the developed chip-sized microscope will be used to observe in real-time...

Im Focus: Giant Magnetic Fields in the Universe

Astronomers from Bonn and Tautenburg in Thuringia (Germany) used the 100-m radio telescope at Effelsberg to observe several galaxy clusters. At the edges of these large accumulations of dark matter, stellar systems (galaxies), hot gas, and charged particles, they found magnetic fields that are exceptionally ordered over distances of many million light years. This makes them the most extended magnetic fields in the universe known so far.

The results will be published on March 22 in the journal „Astronomy & Astrophysics“.

Galaxy clusters are the largest gravitationally bound structures in the universe. With a typical extent of about 10 million light years, i.e. 100 times the...

Im Focus: Tracing down linear ubiquitination

Researchers at the Goethe University Frankfurt, together with partners from the University of Tübingen in Germany and Queen Mary University as well as Francis Crick Institute from London (UK) have developed a novel technology to decipher the secret ubiquitin code.

Ubiquitin is a small protein that can be linked to other cellular proteins, thereby controlling and modulating their functions. The attachment occurs in many...

Im Focus: Perovskite edges can be tuned for optoelectronic performance

Layered 2D material improves efficiency for solar cells and LEDs

In the eternal search for next generation high-efficiency solar cells and LEDs, scientists at Los Alamos National Laboratory and their partners are creating...

Im Focus: Polymer-coated silicon nanosheets as alternative to graphene: A perfect team for nanoelectronics

Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are less stable. Now researchers at the Technical University of Munich (TUM) have, for the first time ever, produced a composite material combining silicon nanosheets and a polymer that is both UV-resistant and easy to process. This brings the scientists a significant step closer to industrial applications like flexible displays and photosensors.

Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

International Land Use Symposium ILUS 2017: Call for Abstracts and Registration open

20.03.2017 | Event News

CONNECT 2017: International congress on connective tissue

14.03.2017 | Event News

ICTM Conference: Turbine Construction between Big Data and Additive Manufacturing

07.03.2017 | Event News

 
Latest News

Periodic ventilation keeps more pollen out than tilted-open windows

29.03.2017 | Health and Medicine

Researchers discover dust plays prominent role in nutrients of mountain forest ecoystems

29.03.2017 | Earth Sciences

OLED production facility from a single source

29.03.2017 | Trade Fair News

VideoLinks
B2B-VideoLinks
More VideoLinks >>>