LA JOLLA, Calif., January 27, 2013 Most patients with an inherited heart condition known as arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) don't know they have a problem until they're in their early 20s. The lack of symptoms at younger ages makes it very difficult for researchers to study how ARVD/C evolves or to develop treatments. A new stem cell-based technology created by 2012 Nobel Prize winner Shinya Yamanaka, M.D., Ph.D., helps solve this problem. With this technology, researchers can generate heart muscle cells from a patient's own skin cells. However, these newly made heart cells are mostly immature. That raises questions about whether or not they can be used to mimic a disease that occurs in adulthood. In a paper published January 27 in Nature, researchers at Sanford-Burnham Medical Research Institute and Johns Hopkins University unveil the first maturation-based "disease in a dish" model for ARVD/C. The model was created using Yamanaka's technology and a new method to mimic maturity by making the cells' metabolism more like that in adult hearts. For that reason, this model is likely more relevant to human ARVD/C than other models and therefore better suited for studying the disease and testing new treatments.
"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 herewe 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.
To establish this model, Chen teamed up with expert ARVD/C cardiologists Daniel Judge, M.D., Joseph Marine, M.D., and Hugh Calkins, M.D., at Johns Hopkins University. Johns Hopkins is home to
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Sanford-Burnham Medical Research Institute