Dr Noboru Komiyama is a Senior Lecturer in the University of Edinburgh’s Centre for Clinical Brain Sciences.
Dysfunction of NMDA receptors and their interacting molecules caused by genetic mutations have been largely implicated in conditions such as autism, intellectual disability, schizophrenia and other mental disorders.
INVESTIGATING THE FUNCTION OF NMDA SUBTYPE OF GLUTAMATE RECEPTORS
We investigate the role and function of NMDA subtype of glutamate receptors and their interacting proteins that form large macro-molecular complexes at excitatory synapses.
Recent human genetic studies have identified many mutations in genes encoding NMDA receptor subunits and their interacting proteins that cause intellectual disability and autism. Thus, we have been systematically engineering defined mutations in these genes to study their physical and functional organisation in the normal brain and their alterations in pathological conditions in vivo.
These studies will provide vital information about basic synaptic biology and better understanding of mechanisms for those psychiatric disorders.
My lab engineer mutations in the genes encoding NMDA receptor subunits, MAGUKs, DLGAPs, Shanks, IRSp53, SynGAP1, CYFIP1, PIKE and others in mice to study phenotypic consequences.
These mice can be used as models to investigate detailed molecular mechanisms for the diseases. These models can be further utilised for future drug testing and developments. We are also developing genetic tools to elucidate detailed molecular interaction and precise localisation of these synaptic proteins in the brain.