Developmental seizures and mortality result from reducing GABAA receptor α2-subunit interaction with collybistin

Nat Commun. 2018 Aug 7;9(1):3130. doi: 10.1038/s41467-018-05481-1.

Abstract

Fast inhibitory synaptic transmission is mediated by γ-aminobutyric acid type A receptors (GABAARs) that are enriched at functionally diverse synapses via mechanisms that remain unclear. Using isothermal titration calorimetry and complementary methods we demonstrate an exclusive low micromolar binding of collybistin to the α2-subunit of GABAARs. To explore the biological relevance of collybistin-α2-subunit selectivity, we generate mice with a mutation in the α2-subunit-collybistin binding region (Gabra2-1). The mutation results in loss of a distinct subset of inhibitory synapses and decreased amplitude of inhibitory synaptic currents. Gabra2-1 mice have a striking phenotype characterized by increased susceptibility to seizures and early mortality. Surviving Gabra2-1 mice show anxiety and elevations in electroencephalogram δ power, which are ameliorated by treatment with the α2/α3-selective positive modulator, AZD7325. Taken together, our results demonstrate an α2-subunit selective binding of collybistin, which plays a key role in patterned brain activity, particularly during development.

Publication types

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

MeSH terms

  • Animals
  • Brain / metabolism
  • Electroencephalography
  • HEK293 Cells
  • Heterocyclic Compounds, 2-Ring / pharmacology
  • Humans
  • Mice
  • Mice, Inbred C57BL
  • Mutation
  • Peptides / chemistry
  • Phenotype
  • Protein Binding
  • Protein Domains
  • Receptors, GABA-A / genetics
  • Receptors, GABA-A / metabolism*
  • Rho Guanine Nucleotide Exchange Factors / metabolism*
  • Seizures / drug therapy*
  • Seizures / mortality*
  • Synapses / metabolism
  • Synaptic Transmission

Substances

  • 4-amino-8-(2-fluoro-6-methoxy-phenyl)-N-propylcinnoline-3-carboxamide
  • Arhgef9 protein, mouse
  • Gabra2 protein, mouse
  • Heterocyclic Compounds, 2-Ring
  • Peptides
  • Receptors, GABA-A
  • Rho Guanine Nucleotide Exchange Factors