Heart-attack gene found in Iowa family, report says
By Steve Sternberg
USA Today
Scientists have identified the first gene believed to guarantee heart attacks in an Iowa family plagued with an unrelenting legacy of heart disease.
Although the gene has so far been found only in this extended family, scientists say it is a major advance in the understanding of coronary artery disease. They believe this knowledge will help them discover other genes that may play a role in heart attack risk.
The finding, in today's Science, is the latest among reports in recent weeks that have brought into much clearer focus the genesis and progression of heart disease and disclosed promising new approaches to prevention and care.
But the research also presents some troubling ethical issues by giving doctors and insurers the power to test for the defect and patients a glimpse at their destiny.
"There are over 100 members of this family. We can tell now in kids age 10 whether they have the heart attack gene or not," says one of the principal researchers, Eric Topol of the Cleveland Clinic.
"One nephew of the patient who initially came to see us weighed 320 pounds. With knowledge of this mutation, is he going to change his life? He's programmed to have a heart attack," Topol says.
The gene, called MEF2A, was discovered by painstakingly analyzing the genetic makeup of 21 members of the family, which has a history of heart disease going back many generations.
Previous research suggests that the gene, when it is functioning as it should, controls a cascade of events that assures the health of the coronary arteries' inner lining.
In heart disease-prone members of the Iowa family, big chunks of the typical gene were missing.
The defective gene makes defective proteins that weaken arteries, assuring that they will eventually clog, crack or burst.
"We're not talking about an increased risk. If you're not run over by a truck or get another disease first, you're going to have a heart attack," Topol says.
This rare mutation has helped researchers identify other more common "hot spots" that might dramatically increase a person's heart attack risk.
Topol says his team is investigating a potential genetic trigger in a heart disease-prone family from West Virginia.
