Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction

Mol Psychiatry. 2013 Oct;18(10):1077-89. doi: 10.1038/mp.2013.71. Epub 2013 May 28.

Abstract

Autism spectrum disorders (ASDs) have been suggested to arise from abnormalities in the canonical and non-canonical Wnt signaling pathways. However, a direct connection between a human variant in a Wnt pathway gene and ASD-relevant brain pathology has not been established. Prickle2 (Pk2) is a post-synaptic non-canonical Wnt signaling protein shown to interact with post-synaptic density 95 (PSD-95). Here, we show that mice with disruption in Prickle2 display behavioral abnormalities including altered social interaction, learning abnormalities and behavioral inflexibility. Prickle2 disruption in mouse hippocampal neurons led to reductions in dendrite branching, synapse number and PSD size. Consistent with these findings, Prickle2 null neurons show decreased frequency and size of spontaneous miniature synaptic currents. These behavioral and physiological abnormalities in Prickle2 disrupted mice are consistent with ASD-like phenotypes present in other mouse models of ASDs. In 384 individuals with autism, we identified two with distinct, heterozygous, rare, non-synonymous PRICKLE2 variants (p.E8Q and p.V153I) that were shared by their affected siblings and inherited paternally. Unlike wild-type PRICKLE2, the PRICKLE2 variants found in ASD patients exhibit deficits in morphological and electrophysiological assays. These data suggest that these PRICKLE2 variants cause a critical loss of PRICKLE2 function. The data presented here provide new insight into the biological roles of Prickle2, its behavioral importance, and suggest disruptions in non-canonical Wnt genes such as PRICKLE2 may contribute to synaptic abnormalities underlying ASDs.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Cells, Cultured
  • Child Development Disorders, Pervasive / genetics*
  • Child Development Disorders, Pervasive / physiopathology
  • Child Development Disorders, Pervasive / psychology
  • Conditioning, Classical
  • Dendrites / ultrastructure*
  • Exploratory Behavior
  • Fear
  • Female
  • Freezing Reaction, Cataleptic / physiology
  • Hippocampus / pathology*
  • Hippocampus / physiopathology*
  • Humans
  • LIM Domain Proteins / deficiency*
  • LIM Domain Proteins / genetics
  • LIM Domain Proteins / physiology*
  • Male
  • Maze Learning
  • Membrane Proteins / deficiency*
  • Membrane Proteins / genetics
  • Membrane Proteins / physiology*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Miniature Postsynaptic Potentials* / genetics
  • Mutation, Missense*
  • Neurons / pathology
  • Neurons / physiology*
  • Phenotype
  • Point Mutation*
  • Post-Synaptic Density / pathology
  • Recombinant Fusion Proteins / metabolism
  • Sequence Homology, Amino Acid
  • Social Behavior
  • Wnt Signaling Pathway*

Substances

  • LIM Domain Proteins
  • Membrane Proteins
  • PRICKLE2 protein, human
  • Prickle2 protein, mouse
  • Recombinant Fusion Proteins