Up until now, understanding and investigating the molecular and genetic cues for disease has involved carrying studies in unhealthy individuals, by mobilizing cells that have been affected by the disease. This has been the case for dilated cardiomyopathy (DCM) – a deficiency which affects the heart’s ability to supply blood efficiently.
A new study published in Cell this week, turned this paradigm around by converting induced pluripotent stem cells (iPSCs) from healthy individuals into DCM-impacted cells.
Led by Joseph Wu at Stanford University’s School of Medicine, the authors matched the upregulation of phosphodiesterases (PDEs) 2A and PDE3A that occurs in DCM patient tissue to upregulation in DCM iPSC-CMs. This was important as is further demonstrated the successful reprogramming of iPSCs into DCM cells. The protein TNNT2, which is mutated in DCM patient tissue, was also observed as such in iPSC-derived DCM tissue.
This study is significant not only because it shed further light on the molecular basis for a severe condition such as DCM, but it is remarkable in its use of reprogrammed iPSCs to mimic patient cells. This opens up opportunities for clinical-level studies that will no longer require high-risk studies on sick patients. While this particular study focused on matching patient DCM conditions to genetic cues on iPSC-derived cells, rather than uncovering novel therapeutic outcomes, it is a remarkable first example that such work might soon be possible.
At Akron, we support research into reprogramming of iPSCs by providing media, solutions and new technologies for such investigations. Contact us for more information.