Washington DC: A team of researchers has found a potential preventive treatment for sudden cardiac death.
More than 15 years ago, David Warshaw and coworkers discovered the precise malfunction of a specific protein in the heart that leads to hypertrophic cardiomyopathy, a common culprit in cases of sudden death in young athletes.
Now, scientists from Harvard Medical School, Stanford University School of Medicine, University of Colorado and MyoKardia Inc. has used some of Warshaw's earlier findings to develop a possible treatment to prevent hypertrophic cardiomyopathy (HCM), an inherited disease that can cause the heart to thicken and stop pumping blood effectively, leading to heart failure.
University of Vermont's Warshaw said that this may offer a generalized approach to solving hypertrophic cardiomyopathy, adding that he thinks it's extremely promising.
HCM can result from different mutations of many proteins in the heart. One of those proteins, myosin, acts as a tiny molecular motor in every heart muscle cell. It pulls and releases on a rope-like protein, actin, in order to make the heart muscle contract and relax as it pumps blood.
A mutation of myosin can "alter the motor's power-generating capacity" and make the heart work improperly, which in turn causes the heart to enlarge, Warshaw says.
He continued that when they gave the drug to a young mouse with the mutation, the mouse's heart developed normally.
Because HCM runs in families, an infant who tests positive for the genetic mutation could receive the treatment and stave off the disease, Warshaw says. Development of a human drug, however, would require much more extensive testing and many remaining questions to be answered, he says.
The study appears in the journal Science.