Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Researchers Link Gene Mutations to Ebstein’s Anomaly

16.02.2011
Ebstein’s anomaly is a rare congenital valvular heart disease. Now, in patients with this disease, researchers of the Academic Medical Center Amsterdam in the Netherlands, the University of Newcastle, UK and the Max Delbrück Center for Molecular Medicine (MDC) Berlin-Buch have identified mutations in a gene which plays an important role in the structure of the heart. The researchers hope that these findings will lead to faster diagnosis and novel, more specifically targeted treatment methods (Circulation Cardiovascular Genetics, DOI: 10.1161/CIRCGENETICS.110.957985)*.

Ebstein’s anomaly is a heart defect in which the valve between the right ventricle and the right atrium is abnormally formed. Since the heart valve cannot close properly, heart function is compromised. Some patients with Ebstein’s anomaly additionally suffer from a myocardial disease called left ventricular noncompaction (LVNC). This disease is associated with increased risk for sudden cardiac death or inadequate functioning of the heart muscle (myocardial insufficiency).

A few years ago in a study of LVNC patients, Prof. Ludwig Thierfelder and Dr. Sabine Klaassen (both MDC) discovered mutations in three different genes that encode muscle structural proteins. These proteins are important for heart contraction and for enabling the blood to be pumped through the body. One gene in which the MDC researchers identified mutations is the gene MYH7. Mutations in this gene in LVNC patients cause sponge-like muscle tissue to protrude into the left ventricle, thus impairing the contractile performance of the heart.

As a consequence of these findings, Dr. Alex V. Postma from Amsterdam, Professor Judith Goodship from Newcastle and PD Dr. Klaassen from the MDC sought to determine whether an association exists between Ebstein’s anomaly, LVNC and mutations in the gene MYH7. In a multicenter study of cohorts from the Netherlands, Germany and the UK, they studied 141 Ebstein’s patients who were not related to each other for mutations in MYH7. In eight of the study participants, the researchers identified mutations in this gene. Six of these patients also suffered from the myocardial disease LVNC in addition to Ebstein’s anomaly.

“From these results we conclude that one mutation can lead to different congenital heart diseases. These can even occur concurrently, as here with Ebstein’s anomaly and LVNC,” said Dr. Klaassen. “In these cases we recommend that other family members also undergo cardiac examinations and genetic testing, since the risk for heart arrhythmia or heart failure is increased in mutation carriers even if they are not known to have a congenital heart defect. The earlier the mutations encoding the structural proteins of the heart are recognized, the better: close monitoring, long-term ECG recording and drug treatment can be conducted at an early stage. This means that physicians can advise and treat their patients more effectively.”

*Mutations in the Sarcomere Gene MYH7 in Ebstein’s Anomaly
Alex V. Postma, PhD 1 ,Klaartje van Engelen, MD 2,3 ,Judith van de Meerakker, MSc 1 Thahira Rahman, PhD 4 ,Susanne Probst, PhD 5 ,Marieke J.H. Baars, MD 3 ,Ulrike Bauer, MD 6 ,Thomas Pickardt, PhD 6 ,Silke R. Sperling, MD 7 ,Felix Berger, MD 8 ,Antoon F.M. Moorman, MD, PhD1 ,Barbara J.M. Mulder, MD, PhD 2 ,Ludwig Thierfelder, MD 5 ,Bernard Keavney, MD 4 ,Judith Goodship, MD 4 ,Sabine Klaassen, MD 5,8
1Heart Failure Research Center, Department of Anatomy, Embryology and Physiology, Academic Medical Center, Amsterdam, The Netherlands
2Department of Cardiology, Academic Medical Center, Amsterdam, The Netherlands;
3Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands;
4Institute of Human Genetics, Newcastle University, Newcastle,
5Max-Delbrück-Center for Molecular Medicine, Berlin, Germany;
6National Registry for Congenital Heart Defects, Berlin, Germany;
7Max Planck Institute for Molecular Genetics, Berlin, Germany;
8Department of Congenital Heart Defects/Pediatric Cardiology, German Heart Institute Berlin and Charité, University Medicine Berlin, Germany on behalf of “Heart Repair Line 1”, EU 6th Framework Program, CONCOR (National Registry and DNA bank of congenital heart defects Netherlands), and Competence Network for Congenital Heart Defects, Germany
Barbara Bachtler
Press Department
Max Delbrück Center for Molecular Medicine (MDC) Berlin-Buch
Robert-Rössle-Straße 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 | Max-Delbrück-Centrum
Further information:
http://www.mdc-berlin.de
http://www.mdc-berlin.de/en/news/2008/20080604-mutations_induce_severe_cardiomyopathy/index.html

More articles from Life Sciences:

nachricht How brains surrender to sleep
23.06.2017 | IMP - Forschungsinstitut für Molekulare Pathologie GmbH

nachricht A new technique isolates neuronal activity during memory consolidation
22.06.2017 | Spanish National Research Council (CSIC)

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Can we see monkeys from space? Emerging technologies to map biodiversity

An international team of scientists has proposed a new multi-disciplinary approach in which an array of new technologies will allow us to map biodiversity and the risks that wildlife is facing at the scale of whole landscapes. The findings are published in Nature Ecology and Evolution. This international research is led by the Kunming Institute of Zoology from China, University of East Anglia, University of Leicester and the Leibniz Institute for Zoo and Wildlife Research.

Using a combination of satellite and ground data, the team proposes that it is now possible to map biodiversity with an accuracy that has not been previously...

Im Focus: Climate satellite: Tracking methane with robust laser technology

Heatwaves in the Arctic, longer periods of vegetation in Europe, severe floods in West Africa – starting in 2021, scientists want to explore the emissions of the greenhouse gas methane with the German-French satellite MERLIN. This is made possible by a new robust laser system of the Fraunhofer Institute for Laser Technology ILT in Aachen, which achieves unprecedented measurement accuracy.

Methane is primarily the result of the decomposition of organic matter. The gas has a 25 times greater warming potential than carbon dioxide, but is not as...

Im Focus: How protons move through a fuel cell

Hydrogen is regarded as the energy source of the future: It is produced with solar power and can be used to generate heat and electricity in fuel cells. Empa researchers have now succeeded in decoding the movement of hydrogen ions in crystals – a key step towards more efficient energy conversion in the hydrogen industry of tomorrow.

As charge carriers, electrons and ions play the leading role in electrochemical energy storage devices and converters such as batteries and fuel cells. Proton...

Im Focus: A unique data centre for cosmological simulations

Scientists from the Excellence Cluster Universe at the Ludwig-Maximilians-Universität Munich have establised "Cosmowebportal", a unique data centre for cosmological simulations located at the Leibniz Supercomputing Centre (LRZ) of the Bavarian Academy of Sciences. The complete results of a series of large hydrodynamical cosmological simulations are available, with data volumes typically exceeding several hundred terabytes. Scientists worldwide can interactively explore these complex simulations via a web interface and directly access the results.

With current telescopes, scientists can observe our Universe’s galaxies and galaxy clusters and their distribution along an invisible cosmic web. From the...

Im Focus: Scientists develop molecular thermometer for contactless measurement using infrared light

Temperature measurements possible even on the smallest scale / Molecular ruby for use in material sciences, biology, and medicine

Chemists at Johannes Gutenberg University Mainz (JGU) in cooperation with researchers of the German Federal Institute for Materials Research and Testing (BAM)...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Plants are networkers

19.06.2017 | Event News

Digital Survival Training for Executives

13.06.2017 | Event News

Global Learning Council Summit 2017

13.06.2017 | Event News

 
Latest News

Quantum thermometer or optical refrigerator?

23.06.2017 | Physics and Astronomy

A 100-year-old physics problem has been solved at EPFL

23.06.2017 | Physics and Astronomy

Equipping form with function

23.06.2017 | Information Technology

VideoLinks
B2B-VideoLinks
More VideoLinks >>>