Impact of KDM6B mosaic brain knockout on synaptic function and behavior
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Archivos
Fecha
2024-11
Profesor/a Guía
Facultad/escuela
Idioma
en
Título de la revista
ISSN de la revista
Título del volumen
Editor
Scientific Reports, Volume 14, Issue 1 December 2024, Article number 20416
Nombre de Curso
Licencia CC
Attribution-NonCommercial-NoDerivatives 4.0 International
CC BY-NC-ND 4.0
Deed
Licencia CC
https://creativecommons.org/licenses/by-nc-nd/4.0/
Resumen
Autism spectrum disorders (ASD) are complex neurodevelopmental conditions characterized by impairments in social communication, repetitive behaviors, and restricted interests. Epigenetic modifications serve as critical regulators of gene expression playing a crucial role in controlling brain function and behavior. Lysine (K)-specific demethylase 6B (KDM6B), a stress-inducible H3K27me3 demethylase, has emerged as one of the highest ASD risk genes, but the precise effects of KDM6B mutations on neuronal activity and behavioral function remain elusive. Here we show the impact of KDM6B mosaic brain knockout on the manifestation of different autistic-like phenotypes including repetitive behaviors, social interaction, and significant cognitive deficits. Moreover, KDM6B mosaic knockout display abnormalities in hippocampal excitatory synaptic transmission decreasing NMDA receptor mediated synaptic transmission and plasticity. Understanding the intricate interplay between epigenetic modifications and neuronal function may provide novel insights into the pathophysiology of ASD and potentially inform the development of targeted therapeutic interventions. © The Author(s) 2024.
Notas
Indexación: Scopus.
Palabras clave
Animals, Autism Spectrum Disorder, Behavior, Animal, Brain, Epigenesis, Genetic, Hippocampus, Jumonji Domain-Containing Histone Demethylases, Male; Mice, Mice, Knockout, Neuronal Plasticity, Synapses, Synaptic Transmission
Citación
DOI
10.1038/s41598-024-70728-5