Date of Award
Master of Science (MS)
Although rare, Cantú syndrome (CS) is a debilitating syndrome without any specific therapy, caused by gain-of-function (GOF) mutations in KCNJ8 and ABCC9 genes that encode ATP-sensitive potassium (KATP) channels. To better understand the link between molecular dysfunction and the complex pathophysiology, animal models that can rigorously mirror human CS are essential. Using ABCC9-mutated zebrafish, which can provide significant advantages over mice as an appropriate vertebrate model, GOF has been demonstrated at a cellular level in the ventricular cardiomyocytes. This also marks the first-known characterization of KATP currents in teleost hearts. In addition, sulfonylurea sensitivities of the channels have been studied, along with phenotypic consequences of such treatment, exploring a potential therapeutic approach to treating CS.
Prof. Colin G. Nichols
Prof. Jonathan R. Silva Prof. Nathaniel Huebsch