Blakely Lab

The Blakely Lab

Human Genetics of Neurotransmitter Transporters

Despite more than four decades of research on neurotransmitter transport and the clear appreciation that these molecules contribute to clearance of neurotransmitters away from receptor sites, until recently no studies have documented genetically encoded alterations in transporter structure supporting disease states.

Recently, with our close colleague Dr. David Robertson in the Vanderbilt Autonomic Dysfunction Center, we identified a coding polymorphism in the NET gene in a patient with Orthostatic Intolerance. Current research in this area is focused on understanding how this mutation alters NET structure and function, whether other NET mutations exist in other OI patients and how NET mutations in general influence cardiovascular phenotypes.

Research is also underway on other transporter genes (e.g. SERT, DAT) to determine whether altered transporter structure could set risk for behavioral or physiologic disturbances.