Targeting Peripheral Somatosensory Neurons to Improve Tactile-Related Phenotypes in ASD Models

Cell. 2019 Aug 8;178(4):867-886.e24. doi: 10.1016/j.cell.2019.07.024.

Abstract

Somatosensory over-reactivity is common among patients with autism spectrum disorders (ASDs) and is hypothesized to contribute to core ASD behaviors. However, effective treatments for sensory over-reactivity and ASDs are lacking. We found distinct somatosensory neuron pathophysiological mechanisms underlie tactile abnormalities in different ASD mouse models and contribute to some ASD-related behaviors. Developmental loss of ASD-associated genes Shank3 or Mecp2 in peripheral mechanosensory neurons leads to region-specific brain abnormalities, revealing links between developmental somatosensory over-reactivity and the genesis of aberrant behaviors. Moreover, acute treatment with a peripherally restricted GABAA receptor agonist that acts directly on mechanosensory neurons reduced tactile over-reactivity in six distinct ASD models. Chronic treatment of Mecp2 and Shank3 mutant mice improved body condition, some brain abnormalities, anxiety-like behaviors, and some social impairments but not memory impairments, motor deficits, or overgrooming. Our findings reveal a potential therapeutic strategy targeting peripheral mechanosensory neurons to treat tactile over-reactivity and select ASD-related behaviors.

Keywords: ASD therapeutics; GABA; autism spectrum disorders; brain development; mechanosensation; mouse genetics.

Publication types

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

MeSH terms

  • Action Potentials / drug effects
  • Animals
  • Anxiety / drug therapy
  • Autism Spectrum Disorder / drug therapy
  • Autism Spectrum Disorder / genetics
  • Autism Spectrum Disorder / metabolism*
  • Behavior, Animal / drug effects
  • Brain / drug effects
  • Disease Models, Animal
  • Female
  • GABA Agonists / pharmacology*
  • GABA Agonists / therapeutic use
  • Isonicotinic Acids / pharmacology*
  • Isonicotinic Acids / therapeutic use
  • Male
  • Maze Learning / drug effects
  • Methyl-CpG-Binding Protein 2 / genetics
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Microfilament Proteins
  • Nerve Tissue Proteins / genetics
  • Phenotype*
  • Prepulse Inhibition / drug effects
  • Sensory Receptor Cells / drug effects*
  • Sensory Receptor Cells / metabolism
  • Touch / drug effects*

Substances

  • GABA Agonists
  • Isonicotinic Acids
  • Mecp2 protein, mouse
  • Methyl-CpG-Binding Protein 2
  • Microfilament Proteins
  • Nerve Tissue Proteins
  • Shank3 protein, mouse
  • isoguvacine