Navigation Links
Discovery in Ghent could improve screening for sudden cardiac death
Date:12/12/2012

ARVC is a hereditary heart condition in which the heart muscle (particularly the right ventricle) is partly replaced by fatty tissue and connective tissue. Cardiac arrhythmias can occur as a result of the changes in the heart muscle. Severe arrhythmias can cause dizziness or even lead to fainting or an acute cardiac arrest (= sudden death). ARVC is a progressive disease that usually presents during the teenage years.

Known mutations in desmosomal proteins

Mutations in various genes have already been linked to ARVC. These are primarily genes that are responsible for the production of proteins in the desmosomes. Desmosomes are structures in the heart that ensure that the heart muscle cells remain connected to each other. Therefore, it was assumed that defects in the desmosomes were the most important factors in developing ARVC.

Identification of new mutations

Together with Italian scientists, Jolanda van Hengel, studied patients with ARVC who did not exhibit mutations in the desmosomal genes. The scientists identified mutations in the CTNNA3 gene in these patients, which codes for the protein αT-catenin a component of the area composita. The area composita is a structure specifically modified to the heart, where extra strong connections between cardiac muscle cells occur.

The scientists' findings indicate that there is a link between mutations in the CTNNA3 gene and ARVC. It was demonstrated for the first time that in addition to desmosomal genes an area composita gene also plays a role in the development of ARVC. Future genetic screening tests for ARVC should include the CTNNA3 gene as a standard part of the test. This would increase the value of the screening.


'/>"/>

Contact: Kris Van der Beken
kris.vanderbeken@vib.be
32-924-46611
VIB (the Flanders Institute for Biotechnology)
Source:Eurekalert

Page: 1

Related medicine news :

1. UAlberta medical researchers make key discovery in fight against Alzheimers disease
2. DNA packaging discovery reveals principles by which CRC mutations may cause cancer
3. Pancreas stem cell discovery may lead to new diabetes treatments
4. New, improved mouse model of human Alzheimers may enable drug discovery
5. Cell death discovery suggests new ways to protect female fertility
6. Discovery of essential genes for drug-resistant bacteria reveals new, high-value drug targets
7. UGA chemistry discovery could have major medical implications
8. Astex, CRT and the Institute of Cancer Research announce epigenetic drug discovery collaboration
9. Genetic discovery in Montreal for a rare disease in Newfoundland
10. Discovery May Improve Diagnosis of Alzheimers, Parkinsons
11. A vaccine for heart disease? La Jolla Institute discovery points up this possibility
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:1/20/2017)... ... January 20, 2017 , ... ... enhance people’s everyday lives, recently attended the January ECRM Trade Show in Hilton ... is known for its large range of supplements that keep the body functioning ...
(Date:1/20/2017)... ... January 20, 2017 , ... “Mary Magdalene: Grace is Greater than Sin”: ... who witnessed Jesus Christ firsthand. “Mary Magdalene: Grace is Greater than Sin” is the ... an educator interacting with countless women who had little knowledge of the female characters ...
(Date:1/20/2017)... ... January 20, 2017 , ... “Christmas in Suffolk”: ... published author, Sara Seymour, who lives in Lafayette, Indiana where she works in a ... iced coffees and writes. , Published by Christian Faith Publishing, Sara Seymour’s new book ...
(Date:1/19/2017)... (PRWEB) , ... January 20, 2017 , ... Today, the ... to participate in four of CMS’s Alternative Payment Models (APMs) in 2017. Clinicians who ... patients. APMs are an important part of the Administration’s effort to build a ...
(Date:1/19/2017)... , ... January 19, 2017 , ... This month, the ... that the name of their drug rehab center in Delray Beach, Florida has been ... that not only stars such as Philip Seymour Hoffman and Chris Farley are dying ...
Breaking Medicine News(10 mins):
(Date:1/19/2017)... YORK , Jan. 19, 2017 This ... the current and future scenario of the global market. ... rising opioid consumption. Severe chronic constipation is a major ... to traditional laxatives. Hence, novel targeted therapy has been ... OIC sufferers, launch of targeted medicines, and growing awareness ...
(Date:1/19/2017)... 19, 2017  Stealth BioTherapeutics Inc. ( Stealth ), ... dysfunction, today announced new additions to its senior leadership ... Medical Officer, and Daniel Geffken as interim ... Jim Carr , Pharm.D. has been promoted to Chief ... to welcome Doug and Daniel to our management team, ...
(Date:1/19/2017)... 2017 According to a study conducted by ... to witness a CAGR of 6.5% during the forecast period 2016-2024. ... continue to be the leading market for cryotherapy globally during the ... Highlights ... ensuring affordable and adequate supply of gas in order to provide ...
Breaking Medicine Technology: