Reza Shojaei

M.Sc. Candidate
Department of Biology (York University)
Joined in 2021.Contact Information

Research Summary

The R222Q-SCN5A mutation in the cardiac NaV1.5 channels is linked to dilated cardiomyopathy and atrial fibrillation. This mutation changes the biophysical properties of the voltage-gated Na+ currents in the heart’s ventricles. Specifically, the mutation affects how the NaV1.5 channel responds to membrane voltage (Vm) by shifting the Vm needed for channel opening to more negative values (i.e. a leftward shift in the activation curve). The mutation also affects the voltage-dependence of “inactivation” properties (which is involved in the process of turning these channels off after they open). These mutations are also associated with non-specific leaks of ions through a part of the channel called the voltage-sensing domain. This non-specific leak is referred to as an Ω-pore. These non-specific currents are expected to have an impact on the ability of cardiomyocytes to maintain a proper sarcoplasmic/cytoplasmic ionic environment which is predicted to create metabolic stress on the cells as they expend energy to maintain homeostasis. My project is focused on creating a disease model based on this mutation to uncover how it will lead to dilated cardiomyopathy and atrial fibrillation in the human heart, using induced pluripotent stem cells.