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Roger R. Markwald, PhD
Genes, Mutations, and Heart Valve Disease (CANCELLED)
Distinguished University Professor; Chair, Regenerative Medicine and Cell Biology; Director, Cardiovascular Developmental Biology Center; Medical University of South Carolina, Charleston, South Carolina
2 Riverside Circle, Roanoke, VA 24016
Screening the DNA of large multigenerational families has pinpointed two genes - filamin-A (FLNA) and dachsous 1 (DCHS1) - that, when mutated, result in mitral valve prolapse, a common cardiac degenerative disease that often leads to heart failure and is the leading cause of heart valve surgery. Dr. Markwald will discuss the role of FLNA, a cytoskeletal regulatory protein, and DCHS1, a cell polarity gene, which are normally expressed only during normal embryonic valve development. When either of these are mutated significantly, there is a long-term effect on the structural integrity of the heart’s mitral valves. This increases the valves’ susceptibility to changes in blood flow, inflammatory cytokines, and mechanical forces. Animal models of both mitral valve prolapse genes have provided insights into the pathways regulating valve growth and development, suggesting that so-called adult-onset cardiac diseases may have their roots in embryonic development. This has led to the discovery of new candidate therapeutic targets for early diagnosis and treatment of human heart valve diseases.
A public reception will precede this event in the VTC Cafe at 5 p.m.
About the Speaker:
Roger R. Markwald, PhD, is a distinguished university professor and chair of regenerative medicine and cell biology at the Medical University of South Carolina in Charleston, South Carolina. He is also director of the Cardiovascular Developmental Biology Center and a professor of pediatrics. Dr. Markwald earned bachelors degrees in biology and chemistry from California State Polytechnic University, and a masters and doctorate degree in anatomy from Colorado State University. He completed postdoctoral work at Medical University of South Carolina.