The Heart in HD

Sophie St-Cyr, PhD of Children's Hospital of Philadelphia joins us to talk about the heart. Heart disease is the second cause of mortality from Huntington'sand patients present an increased incidence of heart failure and a smaller heart. This heart pathology will need solving to improve the longevity and quality of life of HD patients. Dr. St-Cyr will explore the contribution of two RNA-binding proteins (RBPs) in the HD-associated cardiac pathology. RBPs are responsible for regulating the RNA splicing of hundreds of genes, a phenomenon by which different proteins are produced from the same gene and serve different functions. CELF1 is responsible for heart splicing during development while MBNL1 does so in adulthood. Dr. St-Cyr hypothesizes that imbalance between these two RBPs is in part responsible for the HD heart pathology. To test this, she will identify all the RNA isoforms abnormally expressed in the heart in a HD mouse model and determine whether increasing MBNL1 expression ameliorates heart size and contractile function.