Scientists Spot Mutation Behind Genetic Form of Heart Failure

Posted: January 16, 2015 at 7:43 pm

By Dennis Thompson HealthDay Reporter

WEDNESDAY, Jan. 14, 2015 (HealthDay News) -- Researchers have uncovered a major genetic risk for heart failure -- a mutation affecting a key muscle protein that makes the heart less elastic.

The mutation increases a person's risk of dilated cardiomyopathy. This is a form of heart failure in which the walls of the heart muscle are stretched out and become thinner, enlarging the heart and impairing its ability to pump blood efficiently, a new international study has revealed.

The finding could lead to genetic testing that would improve treatment for people at high risk for heart failure, according to the report published Jan. 14 in the journal Science Translational Medicine.

The mutation causes the body to produce shortened forms of titin, the largest human protein and an essential component of muscle, the researchers said in background information.

"We found that dilated cardiomyopathy due to titin truncation is more severe than other forms and may warrant more proactive therapy," said study author Dr. Angharad Roberts, a clinical research fellow at Imperial College London. "These patients could benefit from targeted screening of heart rhythm problems and from implantation of an internal cardiac defibrillator."

About 5.1 million people in the United States suffer from heart failure. One in nine deaths of Americans include heart failure as a contributing cause. And about half of people who develop heart failure die within five years of diagnosis, according to the U.S. Centers for Disease Control and Prevention.

In this study, researchers studied more than 5,200 people, including both healthy people and people suffering from dilated cardiomyopathy. The researchers performed genetic sequencing on all these people, examining the specific gene that the body uses to create titin.

Prior research had found that genetically shortened titin is the major genetic cause of dilated cardiomyopathy, accounting for about 25 percent of severe cases, according to the paper.

However, there are numerous mutations of the titin gene and many never lead to heart failure, so the researchers focused on those variations that occur most often in people with dilated cardiomyopathy.

Follow this link:
Scientists Spot Mutation Behind Genetic Form of Heart Failure

Comments are closed.