Penn, A. (2023, August 31). NMDA receptors and their dysfunction linked to genetic variants [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved March 4, 2024, from https://hstalks.com/bs/5386/.
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Published on August 31, 2023
Dr. Andrew Penn has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
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I'm Dr. Andrew Penn,I'm a lecturer at the
University of Sussexand I will be talking to youtoday about NMDA receptors andtheir dysfunction linked
to genetic variants.
Genetic variants in the genes ofNMDA receptors leads to
dysfunction or problems withNMDA receptors that are
normally proteins that functionat excitatory synapses whichare connections between
neurons in the brain.This dysfunction of neurons
and their connectionsleads to neurological
disorders and thesewill be the subject
of my talk today.
I will first describethe roles NMDA receptors,give some background
about structureand function of NMDA receptors
and then finally talkabout the impact of genetic
variation in NMDA receptors.So first for the roles
of NMDA receptors.
NMDA receptors are
ligand-gated cation channelsand their ligand that they
normally bind is glutamate.They are among other typesof ionotropic
glutamate receptorswhich defined by their
selective agonist NMDA,AMPA, kainate.I'll be talking about the
NMDA receptors today.
NMDA receptors are
expressed mostly inthe nervous system and brainand in addition to
their mRNA expression,the protein is also highlyexpressed in the brain
compared to other tissues.
NMDA receptor expression startsearly in development
around the time ofneural tube closure and
it has important rolesthroughout development
including its rolesin neuronal proliferation,neuronal migration,
neuronal apoptosis,neurite outgrowth and
synapse formation,the refinement of
connections between neurons,synaptic pruning and finally
synaptic modificationsmostly in the postnatal
stages in adulthood.