According to a study, researchers identified gene mutations that cause heart muscle disease and chronic heart failure in some children and adults with dilated cardiomyopathy.
The researchers conducted screening test for 208 people and identified three variants of the ANKRD1 gene that were associated with dilated cardiomyopathy. The researchers reported that 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.