In order to approach these goals, our laboratory integrates investigation of mammalian cells that have been transiently-transfected with cDNA encoding. Patch clamp analysis of wild type and mutant forms of human cardiac ion channel gene products allow us to determine specific disease-induced changes in channel function and unique pharmacological properties that the mutations may confer. Our laboratory interacts closely with an international consortium of clinical colleagues who identify novel gene mutations carried by patients that they treat and then, in turn, apply the pharmacological information we gain at the cellular level to tests and treatment directly in humans. We are presently concentrating our efforts on the long QT syndrome and the Brugadas' Syndrome, two diseases that have been shown to be causally linked to mutations in cardiac ion channels. Our laboratory is fully equipped to carry out the electrophysiology and molecular biological procedures needed for this work.
Representative publications follow.
Molecular pharmacology of the sodium channel mutation D1790G linked to the long-QT syndrome. Channel structure and drug-induced cardiac arrhythmias. MinK-KvLQT1 fusion proteins, evidence for multiple stoichiometries of the assembled IsK channel. A Computational Analysis.