Researchers at John Hopkins have taken skin cells of some of the patients and transformed those cells into Heart cells with the ARVD/C disease symptoms.
Researchers at the Johns Hopkins University School of Medicine and Sanford-Burnham Medical Research Institute in California have created a laboratory-grown cell model of an inherited heart condition known as arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). The model was made by transforming skin cells from two patients with ARVD/C into heart cells using stem cell technology. The researchers were able, for the first time, to coax the cells to mature so that they would mimic the ARVD/C disease that strikes in adulthood.
This has a lot of implications for the future of battling many diseases. Specifically, the ARVD/C disease. Because in this effort, the scientists needed to find the trigger which sets off the disease patterns.
With further study, however, the team discovered that the type of energy used by the cells was the key to inducing signs of ARVD/C, an adult disease, in their embryonic-like cells. Human fetal heart muscle cells use glucose (sugar) as their primary source of energy. In contrast, adult heart muscle cells prefer using fat for energy production. So Chen’s team applied several chemical cocktails to trigger this shift to adult metabolism in their model and found that metabolic malfunction is at the core of ARVD/C disease.
Chen’s team eventually tracked down the final piece of the puzzle to make patient-specific heart muscle cells behave like sick ARVD/C heart cells: the abnormal overactivation of a protein called PPAR , a critical element in the body’s regulation of fatty acids and glucose metabolism. With the newly established model, they not only replicated ARVD/C diseased cells in a dish, but also were able to test new potential drug targets for treating the disease.
“This unique model of ARVD/C not only helped us better understand how the disease develops, we used it to block two pathways in the development of the diseased cells, preventing the progression of the disease. Now, we can explore using these pathways to create effective treatments for ARVD/C,” says Judge.
Pretty Cool, huh!?