Translational Cardiovascular Research Center Seminar Series
When
Where
Health Sciences Education Building, Room C401
435 N. 5th St., Phoenix, AZ 85004
Presenter Details
Sakthivel Sadayappan, PhD, MBA
Head, Department of Cellular and Molecular Medicine
Associate Director of Basic Science, Sarver Heart Center
University of Arizona College of Medicine – Tucson
Abstract
Hypertrophic cardiomyopathy, or HCM, is a common genetic heart disorder frequently associated with mutations in the MYBPC3 gene, which encodes cardiac myosin-binding protein C (cMyBP-C). Alternative splicing of MYBPC3 can produce multiple isoforms, aKecting cMyBP-C’s structural and functional properties in cardiomyocytes and contributing to HCM.
Aberrant splicing events may exacerbate HCM phenotypes by altering protein stability, phosphorylation and sarcomeric integration, thereby driving maladaptive myocardial hypertrophy. Ongoing studies with Dr. Sadayappan investigate the role of MYBPC3 alternative splicing in HCM pathogenesis, underscoring the therapeutic potential of modulating splicing mechanisms to restore normal cMyBP-C function and improve cardiac outcomes in HCM patients.