Autism-associated mutations in ProSAP2/Shank3 impair synaptic transmission and neurexin-neuroligin-mediated transsynaptic signaling

J Neurosci. 2012 Oct 24;32(43):14966-78. doi: 10.1523/JNEUROSCI.2215-12.2012.

Abstract

Mutations in several postsynaptic proteins have recently been implicated in the molecular pathogenesis of autism and autism spectrum disorders (ASDs), including Neuroligins, Neurexins, and members of the ProSAP/Shank family, thereby suggesting that these genetic forms of autism may share common synaptic mechanisms. Initial studies of ASD-associated mutations in ProSAP2/Shank3 support a role for this protein in glutamate receptor function and spine morphology, but these synaptic phenotypes are not universally penetrant, indicating that other core facets of ProSAP2/Shank3 function must underlie synaptic deficits in patients with ASDs. In the present study, we have examined whether the ability of ProSAP2/Shank3 to interact with the cytoplasmic tail of Neuroligins functions to coordinate pre/postsynaptic signaling through the Neurexin-Neuroligin signaling complex in hippocampal neurons of Rattus norvegicus. Indeed, we find that synaptic levels of ProSAP2/Shank3 regulate AMPA and NMDA receptor-mediated synaptic transmission and induce widespread changes in the levels of presynaptic and postsynaptic proteins via Neurexin-Neuroligin transsynaptic signaling. ASD-associated mutations in ProSAP2/Shank3 disrupt not only postsynaptic AMPA and NMDA receptor signaling but also interfere with the ability of ProSAP2/Shank3 to signal across the synapse to alter presynaptic structure and function. These data indicate that ASD-associated mutations in a subset of synaptic proteins may target core cellular pathways that coordinate the functional matching and maturation of excitatory synapses in the CNS.

Publication types

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

MeSH terms

  • 6-Cyano-7-nitroquinoxaline-2,3-dione / pharmacology
  • Analysis of Variance
  • Animals
  • Cadherins / metabolism
  • Carrier Proteins / genetics
  • Carrier Proteins / metabolism
  • Cell Adhesion Molecules, Neuronal / genetics
  • Cell Adhesion Molecules, Neuronal / metabolism*
  • Cells, Cultured
  • Dizocilpine Maleate / pharmacology
  • Embryo, Mammalian
  • Excitatory Amino Acid Antagonists / pharmacology
  • Excitatory Postsynaptic Potentials / drug effects
  • Excitatory Postsynaptic Potentials / genetics
  • Female
  • Green Fluorescent Proteins / genetics
  • Hippocampus / cytology
  • Humans
  • Male
  • Mutation / genetics*
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism
  • Neurons / physiology*
  • Patch-Clamp Techniques
  • Post-Synaptic Density / drug effects
  • Post-Synaptic Density / genetics
  • Post-Synaptic Density / metabolism
  • Pyridinium Compounds / metabolism
  • Quaternary Ammonium Compounds / metabolism
  • RNA, Small Interfering
  • Rats
  • Rats, Wistar
  • Signal Transduction
  • Synaptic Transmission / genetics*
  • Transfection
  • Vesicular Glutamate Transport Protein 1 / metabolism

Substances

  • Cadherins
  • Carrier Proteins
  • Cell Adhesion Molecules, Neuronal
  • Excitatory Amino Acid Antagonists
  • FM 4-64
  • Nerve Tissue Proteins
  • Pyridinium Compounds
  • Quaternary Ammonium Compounds
  • RNA, Small Interfering
  • SHANK3 protein, human
  • Vesicular Glutamate Transport Protein 1
  • enhanced green fluorescent protein
  • Green Fluorescent Proteins
  • Dizocilpine Maleate
  • 6-Cyano-7-nitroquinoxaline-2,3-dione