TGFβ signaling activity as disease biomarkers and therapeutic targets in Friedreich’s Ataxia

Friedreich’s ataxia (FA) is associated with fibrosis in the heart, a process by which the heart becomes thicker and stiffer and has a harder time pumping blood. Recently, the development of cardiac fibrosis has been linked to changes in the cells that make up the inner surface of blood vessels, called endothelial cells (ECs). The process involving these changes is called endothelial to mesenchymal transition, or EndMT, and is a poorly understood phenomenon in which ECs become different cells. These cellular changes have been observed in heart samples obtained from FA patients, suggesting that EndMT in blood vessels may contribute to the pathogenesis of cardiac fibrosis in FA. Dr. Chen plans to study the molecular processes that characterize EndMT and its contribution to cardiac fibrosis in FA. The aims of these studies are to determine whether these molecular changes can be used to track heart disease in FA and whether therapeutic interventions that disrupt this process could be beneficial.