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Icelandic Scientists in Cholesterol Gene Breakthrough

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Icelandic Scientists in Cholesterol Gene Breakthrough

DeCode lab

Photo: Páll Stefánsson.

Scientists at deCode Genetics in Iceland have discovered a rare genetic mutation that lowers so-called bad cholesterol in the blood and appears to provide higher defense against cardiovascular disease.

Kári Stefánsson, president of the company, believes it is one of the most significant discoveries they have made to date—given the sheer number of people it could potentially benefit.

One in every 120 people has the mutation which significantly reduces cholesterol levels in the blood, RÚV reports. The mutation also brings a 35 percent lower chance of cardiovascular diseases and heart attack, deCode claims in a new paper published this week in The New England Journal of Medicine.

“The protection against heart attacks is even greater than we can explain solely by the reduction in fat in the blood. And that is important because there is a large percentage of people who suffer heart attacks who have normal levels of cholesterol in their blood, so there seems to be other biological factors than those related to cholesterol which lead to heart attacks,” Kári says.

He adds that the pharmaceutical company Amgen has been working hard on developing a medicine and that the process is going well; adding that despite this, it is unrealistic to expect it to hit the market any sooner than around seven years from now. Heart disease is one of the world’s biggest killers.

“This is one of the top five or ten discoveries we have made that has the most practical consequences,” Kári says.

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