Mutation of genes causes heart attack

Gene mutations increase the risk of a heart attack

12/11/2013

Gene changes may seem to increase the risk of heart attack. Mutant proteins accelerate thombus formation. This was the result of an international research team that had carried out research on a large family in which 23 family members had suffered a heart attack. The two gene mutations cause platelets to stick together more easily and cause blockage of the vessels. Along with this, the risk of a heart attack increases dramatically.

Heart attacks are among the leading causes of death worldwide. In addition to an unhealthy lifestyle, hereditary factors can also be involved in the development. As part of the “German Heart Attack Family Study” The researchers have become aware of the family. goal of “German Heart Attack Family Study”, which was founded in 1997, is to investigate genetic causes of coronary heart disease and myocardial infarction. So far, 7500 risk patients have been enrolled in the study.

The researchers Prof. Jeanette Erdmann from the Lübeck University Institute for Integrative and Experimental Genomics and the ex-Lübeck Professor Heribert Schunkert, who now works at the German Heart Center Munich, had also found that in the population similar mutations occur, the risk of heart attack also increase.

The risk with them is only to a lesser extent, but parallels can be seen. "While most heart attacks occur sporadically, we rarely see families with a large number of people who seem to have a classic mode of inheritance, and the underlying genetic variants are usually unknown," explains Erdmann. The researchers suspect that both mutations occur only in this family together. Extensive research has shown that the mutant proteins prevent the nitrogen monoxide-dependent immobilization of platelets. As a result, there is an accelerated clot, which can lead to blockages and thereby increase the risk of heart attack. The mutations affect the two common genes GUCY1A3 and CCT7.

"The finding that came as a surprise to us was that there is not just one mutation in this family, but two, which also affect the same enzyme, and when they come together, the risk of heart attack is dramatically increased," adds Heribert Schunkert from the German Heart Center in Munich , The extent to which these findings can be used for the development of new drugs needs further investigation. The results of the study were published in the current issue of the journal „Nature“ published. (Fr)

Image: Gabi Schoenemann