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US Scientists Find Heart Disease Gene - 2003-11-28

U.S. scientists have found the first heart disease gene. They isolated it from several members of an American family with a long history of coronary artery disease and heart attack.

Physician Eric Topol of The Cleveland Clinic in Ohio is clear about the gene's impact. Those who have it are guaranteed heart disease and perhaps a heart attack.

"I can say in my 20 years, which has been dedicated to heart attack research, there has not been any finding which has been [of] more potential importance because it really starts to unravel the disease at the very root," he said.

As Dr. Topol and his colleagues report in the journal Science, they uncovered the gene by methodically studying the genetic makeup of 21 members of an Iowa family plagued for generations by heart disease.

A gene is a section of the microscopic strands of DNA in our cells that determines a specific physical trait or combines with others to do so.

The gene the researchers found repeatedly in the family is actually a mutation of the normal form. It lacks large sections the normal gene possess. Called MEF2A, the mutant variation contributes to physical changes on the inside walls of arteries that allow the buildup of deposits that block blood flow to the heart - a condition called atherosclerosis.

Dr. Topol says the discovery can help scientists track the molecular pathway leading to heart disease, one of the world's major killers.

"Wouldn't it be wonderful if we could know who was going to have a heart attack, who was programmed in their life because of their genetic code to have a heart attack? This is why it's essential that we understand the real basis, the biologic basis, from the genes of this very important disease," said Eric Topol.

The Cleveland Clinic researcher says not many other families are likely to have the same large genetic mutation the Iowa family suffers. Instead, scientists will be searching for smaller mutations of the same gene that may contribute less dramatically to heart disease.

"This is not the final chapter," he said. "This is the beginning of that. But it's very exciting because the technology to identify the genes now has become so advanced, and this is just the first one. Others will be found, probably some related to this gene, maybe some that are unrelated."

The Cleveland Clinic says future research will try to determine the precise roles the missing sections of the MEF2A gene play in causing heart disease and for ways to counteract their negative impact on artery walls.

But Dr. Topol says lifestyle decisions remain important in forestalling heart disease. He points out that even in people with a genetic predisposition, proper weight, blood pressure, and diet can help delay and possibly prevent heart attacks