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Convergence of Hippocampal Pathophysiology in Syngap+/- and Fmr1-/y Mice.

Stephanie A BarnesLasani S WijetungeAdam D JacksonDanai KatsanevakiEmily K OsterweilNoboru H KomiyamaSeth G N GrantMark F BearU Valentin NägerlPeter C KindDavid J A Wyllie
Published in: The Journal of neuroscience : the official journal of the Society for Neuroscience (2016)
As the genetics of intellectual disability (ID) and autism spectrum disorders (ASDs) are unraveled, a key issue is whether genetically divergent forms of these disorders converge on common biochemical/cellular pathways and hence may be amenable to common therapeutic interventions. This study compares the pathophysiology associated with the loss of fragile X mental retardation protein (FMRP) and haploinsufficiency of synaptic GTPase-activating protein (SynGAP), two prevalent monogenic forms of ID. We show that Syngap(+/-) mice phenocopy Fmr1(-/y) mice in the alterations in mGluR-dependent long-term depression, basal protein synthesis, and dendritic spine morphology. Deficits in basal protein synthesis can be rescued by pharmacological interventions that reduce the mGlu5 receptor-ERK1/2 signaling pathway, which also rescues the same deficit in Fmr1(-/y) mice. Our findings support the hypothesis that phenotypes associated with genetically diverse forms of ID/ASDs result from alterations in common cellular/biochemical pathways.
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