Faulty Gene May Trigger Early Heart Disease

The study was published in the August 5, 2002, online edition of Circulation.

The R1141X mutation is the most frequent mutation found in the ABCC6 gene in patients suffering from pseudoxanthoma elasticum (PXE), a rare disorder of the connective tissue in the skin, retina, and artery walls. The mutation, which occurs in about one in 100,000 people can be inherited or occur spontaneously.

Examining nearly 1,500 Dutch people, investigators from the University of Amsterdam (NL; www.uva.nl) found that carriers of this mutation were 4.2 times more likely to have heart disease before age 50 than noncarriers.

"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, explained Dr. Mieke D. Trip, the report's lead author and an internist at the University of Amsterdam. "In addition, we could not find a relationship between this mutation and other major risk factors for heart disease, suggesting that this mutation is operating through a novel pathway to cause coronary heart disease.”

Dr. Trip says if the data are confirmed by other studies, they may lead to genetic screening of PXE families and a more aggressive approach toward the prevention of CAD.



Related Links:
University of Amsterdam