FEB 06, 2016 10:04 AM PST

Inhibitor Developed to Reverse A Genetic Heart Condition

WRITTEN BY: Kara Marker
Hypertrophic cardiomyopathy (HCM) is an inherited heart condition that causes sudden death, especially in young athletes. HCM often results from a mutation in myosin protein, a “molecular motor” that works with actin in the heart to keep it pumping (Cell). Myosin mutations causing HCM increase the size of the muscular heart walls, making it harder for the heart to pump blood and oxygen to the body’s tissues. HCM affects every 1 in 500 people (American Heart Association).
 

 
In a new study from the University of Vermont published in the "Perspectives" column in the February 5, 2016 issue of the journal Science, professor David Warshaw, PhD, presents a molecular inhibitor that can reverse the myosin mutation causing HCM. He successfully saw the inhibitor prevent HCM in mice with the myosin mutation.
 
Mice and humans with the myosin mutation cause the protein to pull too powerfully on actin. "For the heart, this amounts to inducing cardiac fibrosis and muscle cell disarray that are characteristic of HCM patients,” Warshaw said. The inhibitor he used in his experiment reduces the myosin-actin pull to a normal level, producing a healthy heart.
 
A test can be done to tell if someone has the HCM mutation, so if a parent has HCM, their children will know to take the test and get treatment if they also have the condition. However, the experimental drug used in this study to treat mice with HCM will have to be modified for clinical use in humans before the drug will be available.
 
"This may offer a generalized approach to solving hypertrophic cardiomyopathy," Warshaw said. "I think it's extremely promising."
 
 
Source: University of Vermont School of Medicine
 
 
About the Author
I am a scientific journalist and enthusiast, especially in the realm of biomedicine. I am passionate about conveying the truth in scientific phenomena and subsequently improving health and public awareness. Sometimes scientific research needs a translator to effectively communicate the scientific jargon present in significant findings. I plan to be that translating communicator, and I hope to decrease the spread of misrepresented scientific phenomena! Check out my science blog: ScienceKara.com.
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