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Mutant Gene Protects Against Heart Attack

A rare and previously unknown variation in some people's genes substantially reduces heart attack risk and lowers cholesterol levels, potentially paving the way to develop new drugs, Icelandic researchers say.

The missing 12 letters from a gene on chromosome 17 were spotted in a study of genomes and clinical data across the population of Iceland. It was confirmed in data from 300,000 people in other countries.

The findings by researchers at deCODE genetics, a subsidiary of Amgen, were published online by the New England Journal of Medicine.

Interestingly, the genetic variation offers more heart protection than can easily be accounted for by the reduction in cholesterol alone, implying that other processes, such as reduced inflammation, could be involved.

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The association "may suggest a new path to the development of future therapies for the prevention of coronary artery disease", the journal's editors said in an editorial, although they noted the mechanism of action remained unclear.

The discovery has already prompted Amgen to start work on ways to inhibit the ASGR1 protein connected with the gene.

Although statins have done much to cut heart attack risks, cardiovascular disease is still a leading cause of death and drug companies have continued to hunt for new therapies.

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These include recently launched so-called PCSK9 drugs, such as Amgen's Repatha and Sanofi's Praluent, whose development was also spurred by analysis of genetic mutations.