Impact of KDM6B mosaic brain knockout on synaptic function and behavior

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dc.contributor.authorBrauer, Bastian
dc.contributor.authorAncatén-González, Carlos
dc.contributor.authorAhumada-Marchant, Constanza
dc.contributor.authorMeza, Rodrigo C.
dc.contributor.authorMerino-Veliz, Nicolas
dc.contributor.authorNardocci, Gino
dc.contributor.authorVarela-Nallar, Lorena
dc.contributor.authorArriagada, Gloria
dc.contributor.authorChávez, Andrés E.
dc.contributor.authorBustos, Fernando J.
dc.date.accessioned2025-01-24T14:09:03Z
dc.date.available2025-01-24T14:09:03Z
dc.date.issued0024-12
dc.descriptionINDEXACION SCOPUS
dc.description.abstractAutism 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.
dc.identifier.doi10.1038/s41598-024-70728-5
dc.identifier.issn20452322
dc.identifier.urihttps://repositorio.unab.cl/handle/ria/63258
dc.language.isoen
dc.publisher10.1038/s41598-024-70728-5
dc.rights.licenseCC BY LICENSE
dc.subjectASD; Behavior; Gene editing; KDM6B; NMDA
dc.titleImpact of KDM6B mosaic brain knockout on synaptic function and behavior
dc.typeArtículo
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