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Sudden cardiac death: Genetic disease ARVC more common than hitherto assumed
Date:3/6/2014

The genetic disease ARVC leads to sudden cardiac death and is more common than it has been hitherto assumed. This is reported by an international team of researchers headed by Prof Dr Hendrik Milting from the Heart and Diabetes Center NRW in the "European Heart Journal". The molecular biologist working at the Ruhr-Universitt's clinic in Bad Oeynhausen revealed that all families who are known to be affected by the disease share the same genetic origin. There must be other families in Europe who also carry the genetic mutation but who are not yet known.

Mutation initially occurred in Newfoundland

Scientists have thrown light on the genetic mutation that causes a particularly severe genetic disease (ARVC5) on the Canadian island Newfoundland in 2008. At first, they assumed that it was a genetic anomaly limited to this Canadian province. In 2010, Milting's team and at the same time a team of researchers from Copenhagen proved that the "Newfoundland mutation" did also occur in Europe. Today, the scientists know about affected families in Germany, Denmark, the USA and Canada. They all share common ancestors, as was demonstrated through genetic analysis. The scientists studied the environment of the TMEM43 gene in which the ARVC5-specific mutation is located. The genetic sequence in the neighbourhood of TMEM43 is typically highly variable; in all affected families, however, it was identical over long stretches. These findings verify a shared genetic origin.

Further families in Europe must also be affected

The affected Danish and German families are not aware of the degree to which they are related; according to calculations, the mutation originated some 1300 to 1500 years ago. Thus, the ARVC5 mutation in the European families is not a novel mutation but an old European heritage. Therefore, there must be other families with that genetic mutation, who constitute the bridge between the patients in Europe and in N
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Contact: Anna Reiss
info@hdz-nrw.de
49-573-197-1955
Ruhr-University Bochum
Source:Eurekalert

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