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Skin Stem Cells May Lead To Treatments For ARVD/C, Heart Condition That Strikes Young Athletes

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STEM CELLS HEART CONDITION YOUNG ATHLETES
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By Alysha Reid

A new stem-cell technology that transforms patient skin cells into heart cells allowed scientists to mimic a rare inherited heart ailment, paving the way for the development of possible new treatments, according to a new paper published in Nature.

The rare condition, called arrhythmogenic right ventricular dysplasia/cardiomyopathy, or ARVD/C, is a genetic heart defect that disrupts normal heartbeat rhythm and timing. Deterioration of the heart muscle can then bring on heart failure, and according to researchers at the Johns Hopkins Heart and Vascular Institute, is a leading cause of sudden death among young athletes.

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Patients usually show no symptoms until their twenties, making ARVD/C particularly challenging to diagnose and treat. But using technology developed by 2012 Nobel Medicine Prize winner Shinya Yamanaka, MD., researchers took skin samples from adults with ARVD/C and developed ARVD/C-like heart cells in a laboratory.

Researchers at Sanford-Burnham Medical Research Institute and Johns Hopkins University in Baltimore collected skin samples from adult ARVD/C patients. They added molecules to reverse the development of these adult skin cells to their embryotic stage, manipulating them to produce an unlimited supply of heart muscle cells. In these young patient-specific heart muscle cells, researchers over-activated a protein called PPARg, which triggered the heart muscle cells to behave like sick heart cells similar to those in patients with ARVD/C.

"It's tough to demonstrate that a disease-in-a-dish model is clinically relevant for an adult-onset disease. But we made a key finding here -- we can recapitulate the defects in this disease only when we induce adult-like metabolism. This is an important breakthrough considering that ARVD/C symptoms usually don't arise until young adulthood. Yet the stem cells we're working with are embryonic in nature," said Huei-Sheng Vincent Chen, M.D., Ph.D., associate professor at Sanford-Burnham and senior author of the study in a press release.

While there's currently no way to prevent ARVD/C, researchers are optimistic that further experimentation will help them solve mysteries about this often fatal condition. Chen hopes to start preclinical trials with replicated heart cells, this time testing drugs on the cells.

"With this new model, we hope we are now on a path to develop better therapies for this life-threatening disease," said Daniel Judge, M.D., a cardiologist, ARVD/C expert, and medical director of the Center for Inherited Heart Disease at the Johns Hopkins University School of Medicine, in a press release.

"Skin Stem Cells May Lead to Treatments for Heart Condition That Strikes Young Athletes" originally appeared on Everyday Health.

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