Mutation of the genes causes heart attacks

Gene mutations increase the risk of a heart attack

Genetic changes appear to increase the risk of a heart attack. Mutated proteins accelerate thombus formation. This is the conclusion reached by an international team of researchers who had carried out tests on a large family in which 23 family members had suffered a heart attack. The two gene mutations make platelets stick together more easily and cause blockage of the vessels. As a result, 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. The researchers became aware of the family as part of the “German Heart Attack Family Study”. The aim of the “German Heart Attack Family Study”, which was founded in 1997, is to investigate genetically determined causes of coronary heart disease and heart attack. So far, 7,500 risk patients have been included in the study.

The researchers Prof. Jeanette Erdmann from the Lübeck University Institute for Integrative and Experimental Genomics and the ex-Lübeck Prof. Heribert Schunkert, who is now working at the German Heart Center in Munich, also found that similar mutations occur in the population that affect the risk of myocardial infarction also increase.

Although there is only a small amount of risk with them, parallels can be seen. "While most heart attacks occur sporadically, we rarely see families with a large number of victims who seem to have a classic inheritance. The underlying genetic variants are mostly unknown," explains Erdmann. The researchers suspect that both mutations only occur together in this family. Extensive studies have shown that the mutated proteins prevent the platelets from being immobilized on nitrogen monoxide. This results in an accelerated clot formation, which can lead to constipation and thereby increase the risk of heart attack. The mutations affect the two genes GUCY1A3 and CCT7, which work together.

"The very surprising finding for us was that there is not only one mutation in this family, but two, which also affect the same enzyme. When these come together, the risk of heart attack is dramatically increased," adds Heribert Schunkert from the German Heart Center Munich . The extent to which these findings can be used for the development of new drugs needs to be examined more closely. The results of the study were published in the current issue of the journal "Nature". (fr)

Image: Gabi Schoenemann /

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Video: Genome Predictors of Heart Attack Risk

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