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Saturday, 10 August, 2002, 23:03 GMT 00:03 UK
Heart risk gene pinpointed
DNA
The gene is linked to "elastic" arteries
A gene mutation which may quadruple the chance of developing heart disease at a young age has been identified by scientists.

The gene has already been linked to a disease which causes the walls of blood vessels, as well as skin and the retina of the eye, to lose their elasticity.

However, other experts say that the genetic link to heart disease is far more complex, and likely to involve a great many more "faulty" genes.

The study, published in the journal Circulation, focused on a family of genes called ABC genes.

Proteins made by these genes help transport molecules into and out of cells - one disease already linked to problems in this family is cystic fibrosis.

One family member is the C6 gene, which, when mutated, can cause a rare condition called PXE.

Elastic limit

This causes the breakdown of some of the body's elastic fibres and tissues, and PXE has already been linked to premature coronary artery disease.

The Dutch researchers looked closer to the links between a mutation of the C6 gene, examining its frequency in 1,500 healthy patients and 441 patients who had developed early heart disease.

The mutation was four times more likely to be found in the heart disease group than in the "control" group, although it was still relatively uncommon.

Dr Mieke Trip, from the University of Amsterdam, said: "Our results seem to indicate that the mutation in the ABC C6 gene is not rare in the general population and contributes to an increased propensity toward premature heart disease."

Elusive gene

Professor Steve Humphries, the director of University College London's Centre for Cardiovascular Genetics, said that while the finding opened interesting new avenues of research, it was likely to be one piece in a far more complex genetic picture.

However, he added: "There is a disease called abdominal aortic aneurysm, which affects between the ages of 65 to 70, and is caused by a breakdown of the elasticity of blood vessels.

"It may well be that this mutation might be quite common in these people."

See also:

15 Apr 98 | Science/Nature
31 Jul 02 | Health
01 Oct 01 | Health
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