Ion channel trafficking and long-QT syndrome

Determining the molecular mechanisms that underlie defective ion channel trafficking in the long-QT syndrome

In this Intermediate Basic Science Fellowship, Dr Harmer will investigate how an inherited heart condition, called long-QT syndrome, leads to heart rhythm disturbances (arrhythmias). Arrhythmias can cause sudden cardiac death and may also account for around eleven per cent of unexplained deaths. In long-QT syndrome, the irregular heart beat can be caused by abnormalities in structures called ion channels, which coordinate the flow of electricity in the heart. Dr Harmer believes that in some cases of long-QT syndrome a potassium ion channel does not reach its normal location at the surface of the cell, and therefore cannot co-ordinate electrical activity properly. Dr Harmer will study how mutations in these ion channels disrupt their travels to the cell surface.