Mechanisms of DMP Development and Atrioventricular Septation

Medical University Of South Carolina, Charleston SC

Investigators

Linked publications & trials

Abstract

Valvuloseptal development involves a series of events during which septal structures and valves, which together are responsible for the unidirectional flow of two blood circulations through the heart, are formed. Faulty development of these structures can ultimately result in an inadequate oxygen supply to tissues throughout the body which in newborn babies can lead to “infant methemoglobinemia” better known as “blue baby syndrome”. In this project we continue our investigations into the role of the second heart field (SHF) in the pathogenesis of congenital heart disease. Specifically, we follow up on earlier published results and present new preliminary data on the role of SOX9 in the SHF and its importance in the regulation of septation. Based on data obtained during the last project period, we have designed three specific aims. In the first aim we will focus on the role of SOX9 and other SOX family members in outflow tract septation, while for the second aim we have designed experiments in which we will investigate the role of a new candidate gene, proenkephalin (PENK), in outflow tract development. Finally, in our third aim, we will, using a mouse model for Down syndrome, in which septation defects are frequently encountered, test hypotheses about the mechanisms that lead to defects in this model and might be involved in the etiology of defects in patients with Down Syndrome.