NMDA receptors and their dysfunction linked to genetic variants

Published on August 31, 2023   23 min

Other Talks in the Series: Synapses, Neurotransmitters and Receptor Channels

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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.
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NMDA receptors and their dysfunction linked to genetic variants

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