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I'm Dr. Andrew Penn,
I'm a lecturer at the
University of Sussex
and I will be talking to you
today about NMDA receptors and
their dysfunction linked
to genetic variants.
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Genetic variants in the genes of
NMDA receptors leads to
dysfunction or problems with
NMDA receptors that are
normally proteins that function
at excitatory synapses which
are connections between
neurons in the brain.
This dysfunction of neurons
and their connections
leads to neurological
disorders or
neurodevelopmental
disorders and these
will be the subject
of my talk today.
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I will first describe
the roles NMDA receptors,
give some background
about structure
and function of NMDA receptors
and then finally talk
about the impact of genetic
variation in NMDA receptors.
So first for the roles
of NMDA receptors.
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NMDA receptors are
ligand-gated cation channels
and their ligand that they
normally bind is glutamate.
They are among other types
of ionotropic
glutamate receptors
which defined by their
selective agonist NMDA,
AMPA, kainate.
I'll be talking about the
NMDA receptors today.
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NMDA receptors are
expressed mostly in
the nervous system and brain
and in addition to
their mRNA expression,
the protein is also highly
expressed in the brain
compared to other tissues.
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NMDA receptor expression starts
early in development
around the time of
neural tube closure and
it has important roles
throughout development
including its roles
in neuronal proliferation,
neuronal migration,
neuronal apoptosis,
neurite outgrowth and
synapse formation,
the refinement of
connections between neurons,
synaptic pruning and finally
synaptic modifications
mostly in the postnatal
stages in adulthood.
