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Printable Handouts
Navigable Slide Index
- Introduction
- NMDAR dysfunction linked to genetic variants
- Outline (1)
- NMDARs are ligand-gated cation channels
- NMDARs: mostly expressed in the nervous system
- NMDARs in nervous system development
- Neonatal lethality without NMDARs
- NMDARs in the adult nervous system
- Postsynaptic NMDARs regulate synaptic strength
- NMDARs: importance for behavioral learning
- Outline (2)
- An NMDAR is composed of 4 subunits
- Membrane topology of an NMDAR subunit
- NMDAR subunit assembly
- Activation and ion permeability of typical NMDARs
- Diversity of NMDAR subunit composition and function
- Expression patterns of regulatory NMDAR subunits
- Many endogenous ligands regulate NMDAR
- Outline (3)
- Discovery of GRIN variants associated with rare diseases
- GRIN genes differ in their tolerance to genetic variation
- Variable phenotypes associated with GRIN variants
- Most variants are missense and distributed in all domains
- Missense tolerance ratio: GluN2A
- Characterisation and classification of missense GRIN variants
- An example of genotype–phenotype relationship: GRIN2A
- An example of personalised medicine: GRIN2A
- Current developments and future advances
- Support for patients & research
- Summary
Topics Covered
- NMDA Receptors (NMDARs)
- NMDARs and their dysfunction linked to genetic variants
- Roles of NMDARs
- Structure and function of NMDARs
- Impact of genetic variation in NMDRAs
- GRIN genes
- Missense tolerance ratio
- Genotype-phenotype relationship and GRIN2A
Links
Series:
Categories:
Therapeutic Areas:
External Links
Talk Citation
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 December 7, 2024, from https://doi.org/10.69645/QJUV4037.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Andrew Penn has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
A selection of talks on Neurology
Transcript
Please wait while the transcript is being prepared...
0:00
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.
0:12
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.
0:41
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.
0:56
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.
1:18
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.
1:32
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.