Discovery in Ghent could improve screening for sudden cardiac death

December 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.
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Questions

Given that this research can raise many questions of patients, we would like to refer you to the email address that VIB makes available for this purpose. Anyone can submit questions concerning this and other medically oriented research to patienteninfo@vib.be.

Relevant scientific publication

The research will be published in the leading journal European Heart Journal, van Hengel et al., Mutations in the area composita protein alpha-T-catenin are associated with arrhythmogenic right ventricular cardiomyopathy.

Research team

This research was performed in the research group of Frans van Roy in the VIB Department of Molecular Biomedical Research, UGent, headed by Bart Lambrecht.

Funding

This research was funded by FWO, UGent and VIB.

Note to the editor

Credits

When reporting on this research, please mention all partners involved.

VIB

VIB is a non-profit research institute in the life sciences in Flanders, Belgium, with 1200 scientists conducting strategic basic research on the molecular mechanisms that are responsible for the functioning of the human body, plants, and micro-organisms. Through a partnership with four Flemish universities - Ghent University, the Katholieke Universiteit Leuven, the University of Antwerp, and the Vrije Universiteit Brussel − and a solid funding program, VIB unites the forces of 72 research groups in a single institute. Through its technology transfer activities, VIB strives to convert the research results into products for the benefit of consumers and patients. VIB develops and disseminates a wide range of scientifically substantiated information about all aspects of biotechnology. For more information, please visit www.vib.be.

Ghent University

After more than twenty years of uninterrupted growth, Ghent University is now one of the most important institutions of higher education and research in the Low Countries. Ghent University yearly attracts over 30,000 students, with a foreign student population of over 2,200 EU and non-EU citizens. Ghent University offers a broad range of study programs in all academic and scientific fields. With a view to cooperation in research and community service, numerous research groups, centers and institutes have been founded over the years. For more information www.UGent.be.

VIB (the Flanders Institute for Biotechnology)

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