Published 09. 11. 2022
The journal Neuropharmacology (IF 5.273) has published a new study by a team of authors from the Department of Neurochemistry entitled "The pathogenic N650K variant in the GluN1 subunit regulates the trafficking, conductance, and pharmacological properties of NMDA receptors". The study was created in collaboration with scientists from the Institute of Physiology and the Institute of Organic Chemistry and Biochemistry of the CAS.
The authors from IEM CAS include Mgr. Marharyta Kolcheva, Mgr. Marek Ladislav, Ph.D., Mgr. Jakub Netolický, Ing. Štěpán Kortus, Ph.D., Mgr. Kristýna Řeháková, Ph.D., Mgr. Barbora Hrcka Krausová, Ph.D., Mgr. Katarína Hemelíková, Ph.D., Mgr. Anna Misiachna, RNDr. Anna Kádková , Ph.D. and Mgr. Martin Horák, Ph.D.
In the research, the scientists primarily focused on the functional characterization of the pathogenic N650K mutation in the NMDA receptor subunit (GluN1). This mutation is associated with CNS development disorders and epileptic seizures in patients. The researchers found that the mutation increases the amount of NMDA receptors on the neuron surface and the affinity for glutamate and glycine agonists. The study also tested the potential impact of the clinically used agents memantine and ketamine, which showed promising neuroprotective effects.
The results provide detailed characteristics of the N650K mutation in the GluN1 subunit of the NMDA receptor needed to select the correct personalized therapeutic approach in treating patients suffering from epilepsy and delayed CNS development.