Gene Mutation Is Linked to Heart Muscle Disease

WEDNESDAY July 15, 2009 -- Gene mutations that cause heart muscle disease and chronic heart failure in some children and adults with dilated cardiomyopathy have been identified by researchers.

Dilated cardiomyopathy -- the most common cause of heart failure in young people and the most common reason for a heart transplant -- is a condition in which the heart becomes weakened and enlarged and is no longer able to pump blood efficiently.

The researchers screened 208 people and identified three variants of the ANKRD1 gene that were associated with dilated cardiomyopathy. According to their study, which appears online and in the July 21 print issue of the Journal of the American College of Cardiology, the ANKRD1 gene encodes a protein that plays a role in the structure and function of the heart.

"Our study indicates that variants in ANKRD1 result in dysfunction of the contraction apparatus and signaling machinery of the heart -- the method by which cells communicate to influence heart function," Dr. Jeffrey Towbin, co-director of the Heart Institute and director of cardiology at Cincinnati Children's Hospital Medical Center, said in a hospital news release. "This clarifies the mechanisms by which these inherited mutations cause disease in a subset of dilated cardiomyopathy patients."

He said the finding "provides us with a better understanding of the causes and mechanisms involved in the development of this disease and will enable better genetic testing and new treatments to be devised to improve outcomes of this serious disease."

More information

The American Heart Association has more about dilated cardiomyopathy.

Posted: July 2009


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