Autism-like phenotypes and increased NMDAR2D expression in mice with KDM5B histone lysine demethylase deficiency - PubMed
4 hours ago
- #autism spectrum disorder
- #KDM5B
- #neurodevelopment
- Loss-of-function mutations in H3K4me3 lysine demethylases are linked to autism spectrum disorder (ASD) and intellectual disability (ID).
- Mice lacking KDM5B demethylase activity showed autism-like behaviors and larger brain size.
- The Kdm5b mutant neocortex had increased H3K4me3 levels and upregulated expression of neurodevelopmental genes.
- Specifically, Grin2d gene expression and NMDAR2D protein levels were elevated in synaptosomes from Kdm5b-deficient mice.
- Treatment with memantine, an NMDAR antagonist, rescued deficits in ultrasonic vocalizations in these mice.