Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release

Sci Adv. 2024 Jul 12;10(28):eadk5462. doi: 10.1126/sciadv.adk5462. Epub 2024 Jul 10.

Abstract

Adherens junction-associated protein 1 (AJAP1) has been implicated in brain diseases; however, a pathogenic mechanism has not been identified. AJAP1 is widely expressed in neurons and binds to γ-aminobutyric acid type B receptors (GBRs), which inhibit neurotransmitter release at most synapses in the brain. Here, we show that AJAP1 is selectively expressed in dendrites and trans-synaptically recruits GBRs to presynaptic sites of neurons expressing AJAP1. We have identified several monoallelic AJAP1 variants in individuals with epilepsy and/or neurodevelopmental disorders. Specifically, we show that the variant p.(W183C) lacks binding to GBRs, resulting in the inability to recruit them. Ultrastructural analysis revealed significantly decreased presynaptic GBR levels in Ajap1-/- and Ajap1W183C/+ mice. Consequently, these mice exhibited reduced GBR-mediated presynaptic inhibition at excitatory and inhibitory synapses, along with impaired synaptic plasticity. Our study reveals that AJAP1 enables the postsynaptic neuron to regulate the level of presynaptic GBR-mediated inhibition, supporting the clinical relevance of loss-of-function AJAP1 variants.

MeSH terms

  • Alleles
  • Animals
  • Cell Adhesion Molecules / genetics
  • Cell Adhesion Molecules / metabolism
  • Epilepsy / genetics
  • Epilepsy / metabolism
  • Epilepsy / pathology
  • Female
  • Humans
  • Loss of Function Mutation
  • Male
  • Mice
  • Mice, Knockout
  • Neurodevelopmental Disorders / genetics
  • Neurodevelopmental Disorders / metabolism
  • Neurodevelopmental Disorders / pathology
  • Neuronal Plasticity
  • Neurons / metabolism
  • Neurotransmitter Agents* / metabolism
  • Synapses* / metabolism
  • Synaptic Transmission*

Substances

  • Neurotransmitter Agents
  • AJAP1 protein, human
  • Cell Adhesion Molecules