Navigation Links
Researchers link gene mutations to Ebstein's anomaly
Date:2/16/2011

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 Delbrck 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."


'/>"/>

Contact: Barbara Bachtler
bachtler@mdc-berlin.de
49-309-406-3896
Helmholtz Association of German Research Centres
Source:Eurekalert

Related biology news :

1. UT researchers link algae to harmful estrogen-like compound in water
2. Ben-Gurion U. researchers develop techniques to manipulate plant adaption in arid climates
3. Jefferson researchers provide genetic evidence that antioxidants can help treat cancer
4. Researchers working toward automating sedation in intensive care units
5. Boston University School of Medicine researchers receive NIMH brain awards
6. Just in time for Valentines Day: UNC researchers identify a gene critical for heart function
7. Johns Hopkins researchers capture jumping genes
8. The brain knows what the nose smells, but how? Stanford researchers trace the answer
9. Cornell researchers find a strong community protects adolescents from risky health behavior
10. First new C. difficile drug in a generation superior to existing treatments: Researchers
11. Researchers test inhalable measles vaccine
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:3/30/2017)... YORK , March 30, 2017 Trends, ... type (physiological and behavioral), by technology (fingerprint, AFIS, iris ... voice recognition, and others), by end use industry (government ... and immigration, financial and banking, and others), and by ... Europe , Asia Pacific , ...
(Date:3/24/2017)... MILAN , March 24, 2017 The Controller ... Deputy Controller Mr. Abdulla Algeen have received the prestigious international ... Continue Reading ... ... small picture) and Deputy Controller Abdulla Algeen (small picture on the right) ...
(Date:3/22/2017)... March 21, 2017   Neurotechnology , a ... technologies, today announced the release of the ... provides improved facial recognition using up to 10 ... single computer. The new version uses deep neural-network-based ... and it utilizes a Graphing Processing Unit (GPU) ...
Breaking Biology News(10 mins):
(Date:5/24/2017)... , ... May 24, 2017 , ... ... and implementation of CLEARAS Water Recovery’s Advanced Biological Nutrient Recovery (ABNR™) technology at ... of a $24 million plant upgrade to sustainably meet current and future nutrient ...
(Date:5/23/2017)... Canada (PRWEB) , ... May 23, 2017 , ... ... Firmex FileSend, a cloud-based file transfer solution that makes it easy for organizations ... without having to worry about cumbersome FTP software or email file size limitations. ...
(Date:5/23/2017)... Washington, USA (PRWEB) , ... May 22, 2017 ... ... SPIE Optics and Photonics 2017 in San Diego, California, this August will ... reality, solar fuels, and autonomous vehicles. , SPIE Optics and Photonics, the largest ...
(Date:5/23/2017)... Massachusetts (PRWEB) , ... May 23, 2017 , ... ... making a splash at this year’s Bio-IT World Conference and Expo in ... Smart Data Lake® 4.0 solution. The Anzo Smart Data Lake is also a ...
Breaking Biology Technology: