NitroSynapsin therapy for a mouse MEF2C haploinsufficiency model of human autism

Nat Commun. 2017 Nov 14;8(1):1488. doi: 10.1038/s41467-017-01563-8.

Abstract

Transcription factor MEF2C regulates multiple genes linked to autism spectrum disorder (ASD), and human MEF2C haploinsufficiency results in ASD, intellectual disability, and epilepsy. However, molecular mechanisms underlying MEF2C haploinsufficiency syndrome remain poorly understood. Here we report that Mef2c +/-(Mef2c-het) mice exhibit behavioral deficits resembling those of human patients. Gene expression analyses on brains from these mice show changes in genes associated with neurogenesis, synapse formation, and neuronal cell death. Accordingly, Mef2c-het mice exhibit decreased neurogenesis, enhanced neuronal apoptosis, and an increased ratio of excitatory to inhibitory (E/I) neurotransmission. Importantly, neurobehavioral deficits, E/I imbalance, and histological damage are all ameliorated by treatment with NitroSynapsin, a new dual-action compound related to the FDA-approved drug memantine, representing an uncompetitive/fast off-rate antagonist of NMDA-type glutamate receptors. These results suggest that MEF2C haploinsufficiency leads to abnormal brain development, E/I imbalance, and neurobehavioral dysfunction, which may be mitigated by pharmacological intervention.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Animals
  • Autistic Disorder / genetics*
  • Autistic Disorder / pathology
  • Autistic Disorder / physiopathology
  • Behavior, Animal
  • Biomarkers / metabolism
  • Brain / growth & development*
  • Brain / pathology
  • Brain / physiopathology
  • Cell Death
  • Disease Models, Animal
  • Down-Regulation
  • Excitatory Amino Acid Antagonists / pharmacology
  • Excitatory Amino Acid Antagonists / therapeutic use*
  • Gene Expression Profiling
  • Haploinsufficiency*
  • Humans
  • Long-Term Potentiation / genetics
  • MEF2 Transcription Factors / genetics
  • Memantine / analogs & derivatives*
  • Memantine / pharmacology
  • Memantine / therapeutic use*
  • Mice, Inbred C57BL
  • Neurogenesis / genetics
  • Neurons / pathology
  • Phenotype
  • Receptors, N-Methyl-D-Aspartate / drug effects
  • Synapses / pathology
  • Synaptic Transmission / genetics

Substances

  • Biomarkers
  • Excitatory Amino Acid Antagonists
  • MEF2 Transcription Factors
  • Mef2c protein, mouse
  • Receptors, N-Methyl-D-Aspartate
  • Memantine