Scientists discover 'mutant' gene that PROTECTS the heart - paving way for new drugs to prevent heart attacks

  • Rare and unknown variation in some genes 'reduces risk of heart attacks'
  • Discovery paves the way for new treatments to help protect the heart
  • Scientists working on ways to inhibit the ASGR1 protein connected with the gene, but do not yet know how the gene variation acts to lower risk

By Reuters

Published: 16:01 EST, 18 May 2016 | Updated: 02:02 EST, 20 May 2016

A rare and previously unknownvariation in some people's genes substantially reduces heartattack risk and cholesterol levels, scientists found.

The discovery potentially paves the way for the development of new drugs, Icelandic researchers said.

The missing 12 letters from a gene on chromosome 17 werespotted in a study of genomes and clinical data across thepopulation of Iceland.

A rare and previously unknown variation in some people's genes substantially reduces heart attack risk and cholesterol levels and paves the way for the development of new drugs, Icelandic researchers said

A rare and previously unknown variation in some people's genes substantially reduces heart attack risk and cholesterol levels and paves the way for the development of new drugs, Icelandic researchers said

It was confirmed in data from some300,000 people in other countries.

The findings by researchers at deCODE genetics, a subsidiaryof Amgen, were published online by the New EnglandJournal of Medicine (NEJM).

Interestingly, the genetic variation offers more heartprotection than can easily be accounted for by the reduction incholesterol alone, implying that other processes, such asreduced inflammation, could well be involved.

An editorial in the NEJM said the association 'may suggest anew path to the development of future therapies for theprevention of coronary artery disease'.

However scientists noted themechanism of action remained unclear.

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

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

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

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

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

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