Molecular mechanisms of ion channel disease
9459 Wi Institute Medical Research
1111 Highland Ave
Madison, WI 53705
Membrane Biology & Protein Trafficking; Physiology; RNA Biology
The electrical signals responsible for neuronal communication and cardiac rhythmicity depend on potassium channels, proteins that regulate the movement of potassium ions across cell membranes. The disruption of these channels by inherited diseases or drugs can lead to neurological defects or catastrophic cardiac arrhythmias. We use a range of electrophysiological, biochemical and cell biological techniques to study the function of ion channels and the specializations that enable them to fulfill their physiological roles. A major focus of the lab is on hERG channels, a target of inherited and acquired long QT syndrome. We study the biophysical activity of these channels and how perturbations of channel structure and function cause disease using both heterologous expression systems and cardiomyocytes derived from human induced pluripotent stem cells (iPSC’s). Another project focuses on the EAG channel, a brain-specific channel that is aberrantly upregulated in various cancers. In this project we are interested in how ancient, highly conserved cytosolic domains allosterically regulate channel activity in normal function and disease.