Essential role for InSyn1 in dystroglycan complex integrity and cognitive behaviors in mice

Elife. 2019 Dec 12:8:e50712. doi: 10.7554/eLife.50712.

Abstract

Human mutations in the dystroglycan complex (DGC) result in not only muscular dystrophy but also cognitive impairments. However, the molecular architecture critical for the synaptic organization of the DGC in neurons remains elusive. Here, we report Inhibitory Synaptic protein 1 (InSyn1) is a critical component of the DGC whose loss alters the composition of the GABAergic synapses, excitatory/inhibitory balance in vitro and in vivo, and cognitive behavior. Association of InSyn1 with DGC subunits is required for InSyn1 synaptic localization. InSyn1 null neurons also show a significant reduction in DGC and GABA receptor distribution as well as abnormal neuronal network activity. Moreover, InSyn1 null mice exhibit elevated neuronal firing patterns in the hippocampus and deficits in fear conditioning memory. Our results support the dysregulation of the DGC at inhibitory synapses and altered neuronal network activity and specific cognitive tasks via loss of a novel component, InSyn1.

Keywords: GABA; InSyn1; dystrophin/dystroglycan complex; hippocampus; inhibitory synapse; memory; mouse; neuroscience.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Cells, Cultured
  • Cognition
  • Dystroglycans / metabolism*
  • GABAergic Neurons / metabolism*
  • Hippocampus / physiology*
  • Humans
  • Memory*
  • Mice, Inbred C57BL
  • Synapses / metabolism*
  • Synapsins / metabolism*

Substances

  • SYN1 protein, human
  • Synapsins
  • Dystroglycans