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Result of scientific cooperation between Bielefeld and Bad Oeynhausen

Biophysicists at Bielefeld University have contributed decisively to an international study on the genetic disease ARVC. ARVC (arrhythmogenic right ventricular cardiomyopathy) is a dangerous form of a heart disease. It leads to sudden cardiac death and is more widespread than previously assumed. These findings were published yesterday (06.03.2014) by a research team from Canada, Denmark, Germany, and the United States in the online version of the renowned European Heart Journal. ‘This study is also an outcome of many years of productive cooperation with the medical scientists at the Heart and Diabetes Center North Rhine-Westphalia, Bad Oeynhausen’, stresses Professor Dr. Dario Anselmetti from Bielefeld University’s Faculty of Physics. He and his team of nano- and biophysicists have been using cell nanomechanics to study the genetic mutation.

Heart disease may well lead to sudden cardiac death. More than half of these diseases can be attributed to genetic mutations. The mutation of a particularly dangerous form of heart disease, known as ARVC5, predominantly deteriorates  the right ventricle of the heart and leads to sudden cardiac death particularly in young men and was discovered in a new gene in the Canadian province of Newfoundland in 2008. However, the function of this gene and thereby the disease mechanism have been completely unclear up to now. It was also assumed that this mutation occurred only in Canada. However, in the latest issue of the European Heart Journal, members of an international research team from Canada, Denmark, Germany, and the United States are now reporting that the disease is caused by an old mutation from Europe, and that American and European patients share the same genetic roots.

Although the complete human genome has now been decoded, there are still major uncertainties about the function of many genes and their clinical phenomenology. This also applies to the identified heart muscle gene associated with ARVC5. Despite being able to identify the mutation, which task the gene labelled TMEM43 actually performs in the cell was previously unknown.
It was finally indications that the genetic product could be localized in the cell nucleus that put researchers in Professor Hendrik Milting’s team at the Heart and Diabetes Center in Bad Oeynhausen and biophysicists at Bielefeld headed by Professor Dario Anselmetti on the right track: the nanomechanics of skin cells nuclei from patients with ARVC5 revealed a marked stiffening. Although the gene mutation of TMEM43 is produced in all patient’s cells, it seems that particularly the mechanically active heart cells do not tolerate this stiffening of the nucleus, the researchers concluded.

These nanomedical studies by the Bielefeld physicists are the first to deliver indications regarding why the mutation in the TMEM43 gene induces this heart disease. Due to these findings, the researchers can now study why this disease proves to be particularly severe in men. The medical scientists in Bad Oeynhausen and the biophysicists in Bielefeld hope that their study will lead to new findings that could make a major contribution to develop a personalized treatment for ARVC5.

Since 2009, Bielefeld biophysicists have been cooperating closely with medical scientists in Bad Oeynhausen. In the future, the researchers plan to intensify and broaden their successful research cooperation, which has already resulted in six biomedical publications. The Heart and Diabetes Center NRW in Bad Oeynhausen is an University hospital of the Ruhr-University of Bochum.

The original article in the European Heart Journal is available online at:
http://eurheartj.oxfordjournals.org/content/early/2014/03/03/eurheartj.ehu077

Contact:
Prof. Dr. Dario Anselmetti, Bielefeld University
Experimental Biophysics & Applied Nanoscience
Telephone: 0521 106-5391
Email: dario.anselmetti@physik.uni-bielefeld.de

Further information is available online at:
www.aktuell.ruhr-uni-bochum.de/pm2014/pm00026.html.de