PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking

Nat Commun. 2016 Mar 16:7:10861. doi: 10.1038/ncomms10861.

Abstract

Jacobsen syndrome (JBS) is a rare congenital disorder caused by a terminal deletion of the long arm of chromosome 11. A subset of patients exhibit social behavioural problems that meet the diagnostic criteria for autism spectrum disorder (ASD); however, the underlying molecular pathogenesis remains poorly understood. PX-RICS is located in the chromosomal region commonly deleted in JBS patients with autistic-like behaviour. Here we report that PX-RICS-deficient mice exhibit ASD-like social behaviours and ASD-related comorbidities. PX-RICS-deficient neurons show reduced surface γ-aminobutyric acid type A receptor (GABAAR) levels and impaired GABAAR-mediated synaptic transmission. PX-RICS, GABARAP and 14-3-3ζ/θ form an adaptor complex that interconnects GABAAR and dynein/dynactin, thereby facilitating GABAAR surface expression. ASD-like behavioural abnormalities in PX-RICS-deficient mice are ameliorated by enhancing inhibitory synaptic transmission with a GABAAR agonist. Our findings demonstrate a critical role of PX-RICS in cognition and suggest a causal link between PX-RICS deletion and ASD-like behaviour in JBS patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Autism Spectrum Disorder / genetics*
  • Autism Spectrum Disorder / metabolism
  • Autism Spectrum Disorder / psychology
  • Behavior, Animal / drug effects
  • Behavior, Animal / physiology*
  • Clonazepam / pharmacology
  • Excitatory Amino Acid Agonists / toxicity
  • GABA Modulators / pharmacology
  • GTPase-Activating Proteins / genetics*
  • Grooming
  • Jacobsen Distal 11q Deletion Syndrome / genetics*
  • Jacobsen Distal 11q Deletion Syndrome / metabolism
  • Jacobsen Distal 11q Deletion Syndrome / psychology
  • Kainic Acid / toxicity
  • Mice
  • Mice, Knockout
  • Olfactory Perception / drug effects
  • Olfactory Perception / genetics
  • Protein Transport / genetics*
  • Receptors, GABA-A / metabolism*
  • Seizures / chemically induced
  • Seizures / genetics
  • Social Behavior*
  • Stereotyped Behavior / drug effects
  • Stereotyped Behavior / physiology
  • Vocalization, Animal / drug effects
  • Vocalization, Animal / physiology

Substances

  • Excitatory Amino Acid Agonists
  • GABA Modulators
  • GC-GAP protein, mouse
  • GTPase-Activating Proteins
  • Receptors, GABA-A
  • Clonazepam
  • Kainic Acid