Sudden death in young athletes is devastating for all concerned. Now there may be a possibility of treatment.
Hypertrophic cardiomyopathy (HCM) is an inherited disease that can cause the heart to thicken and stop pumping effectively. Researchers led by David Warshaw, PhD, discovered a specific protein that malfunctions in HCM. Now a new team of scientists is building on that earlier research.
Myosin is a protein in the heart muscle cells that acts like a tiny motor. It affects the heart’s ability to pump blood.
When a mutation occurs in the myosin protein, it can make the heart work improperly and cause the heart to become enlarged. Mutated myosin actually “revs up” the heart, causing internal stress and structural damage.
Dr. Warshaw, a professor and chair of molecular physiology and biophysics at the University of Vermont College of Medicine detailed the new findings and the potential for therapy in the February issue of Science.
"This may offer a generalized approach to solving hypertrophic cardiomyopathy," Dr. Warshaw commented in a press release. "I think it's extremely promising."
Led by Christine Seidman, MD, the new research team focused on testing a medication that slows down myosin so the heart works normally.
Dr. Seidman is a professor of genetics and medicine at Harvard Medical School and director of the Cardiovascular Genetics Center at Brigham and Women's Hospital in Boston.
Dr. Seidman and colleagues tested the new medication in mice bred to have the myosin mutation. The hearts of mice treated with the medication developed normally.
HCM runs in families, so children suspected of having the condition could be tested as infants and potentially treated to prevent HCM. This testing is a long way from having medication ready to treat humans, however.
The new study was published in the February issue of Science.
Information on study funding and conflict of interest was not available at the time of publication.