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Gene Mutation Linked to Early Heart Disease

Dutch research says mutation affect artery elasticity

MONDAY, Aug. 5, 2002 (HealthDayNews) -- Dutch researchers have found that a gene mutation that affects artery elasticity may put some people at increased risk of early coronary heart disease.

According to a new study in today's rapid access issue of Circulation: Journal of the American Heart Association, a mutation in a gene called ABCC6 appears more frequently in people who developed coronary artery disease before age 50 than in healthy people.

The mutation, called R1141X, can be an inherited trait or can occur spontaneously, the researchers says.

The study included 1,500 people. It found that people with the mutation in the ABCC6 gene were 4.2 times more likely than those without the mutation to have heart disease before age 50.

ABCC6 is a member of a family of genes that code for proteins that transport molecules in and out of cells. The actual function of the ABCC6 gene hasn't been uncovered by researchers. They suspect it plays a role in keeping elastic fibers healthy.

When the ABCC6 gene is mutated, it causes a rare disorder called pseudoxanthoma elasticum (PXE). This disorder occurs in about 1 in 100,000 people and affects connective tissue in the skin, retina and artery walls.

People with PXE have a breakdown of elastic fibers in their bodies and tissues become hardened with calcium.

The R1141X mutation is the most frequent found in the ABCC6 gene of people living in The Netherlands and Europe.

"Our results seem to indicate that the R1141X mutation in the ABCC6 gene is not rare in the general population and contributes to an increased propensity toward premature heart disease," says the study lead author, Dr. Mieke D. Trip, an internist at the University of Amsterdam.

More information

The National Heart, Lung and Blood Institute has more facts about coronary artery disease.

SOURCE: American Heart Association, news release, Aug. 5, 2002
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