IPRD funded research by Stephen Chelko
Arrhythmogenic Cardiomyopathy (ACM) is a rare, inherited heart disease with a high risk of sudden cardiac death (SCD) in the pediatric population, and accounts for >20% of SCDs worldwide, annually. ACM disease progression worsens in an age-dependent manner, and is characterized by ventricular dysfunction, arrhythmias, and myocardial inflammation/fibrosis. ACM is considered “a disease of the cardiac desmosome,” as >60% of ACM cases arise from desmosomal gene variants (DSC2, DSG2, PKP2, JUP, DSP). Incomplete penetrance and variable expressivity complicate disease progression, as environmental factors (e.g., exercise, diet, and stress) are known contributors of disease onset and progression. The goal of this research project is to examine the efficacy of PF1355, an inhibitor of the enzyme myeloperoxidase, on the prevention of ACM disease onset and progression.
Resources
Dr. Stephen Chelko, Ph.D., assistant professor of Biomedical Sciences at FSU College of Medicine talks about his research on Arrhythmogenic Cardiomyopathy and how IPRD funding has fueled this groundbreaking work. See hands-on experimentation with Postdoctoral Scholar, Ann Centner, and Lab Technician, Nicole Cannon. Also hear from student speakers Emily Shiel and Waleed Fara, to learn more about the lab’s research. Citation for the image at 0:20 (MacRae et al., 2006; Lin et al., 2021).