Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism

Proc Natl Acad Sci U S A. 2011 Mar 22;108(12):4920-5. doi: 10.1073/pnas.1102233108. Epub 2011 Mar 7.

Abstract

Glutamate receptor interacting protein 1 (GRIP1) is a neuronal scaffolding protein that interacts directly with the C termini of glutamate receptors 2/3 (GluA2/3) via its PDZ domains 4 to 6 (PDZ4-6). We found an association (P<0.05) of a SNP within the PDZ4-6 genomic region with autism by genotyping autistic patients (n=480) and matched controls (n=480). Parallel sequencing identified five rare missense variants within or near PDZ4-6 only in the autism cohort, resulting in a higher cumulative mutation load (P=0.032). Two variants correlated with a more severe deficit in reciprocal social interaction in affected sibling pairs from proband families. These variants were associated with altered interactions with GluA2/3 and faster recycling and increased surface distribution of GluA2 in neurons, suggesting gain-of-function because GRIP1/2 deficiency showed opposite phenotypes. Grip1/2 knockout mice exhibited increased sociability and impaired prepulse inhibition. These results support a role for GRIP in social behavior and implicate GRIP1 variants in modulating autistic phenotype.

Publication types

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

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Adaptor Proteins, Signal Transducing / metabolism
  • Animals
  • Autistic Disorder / genetics
  • Autistic Disorder / metabolism*
  • Carrier Proteins / genetics
  • Carrier Proteins / metabolism*
  • Cells, Cultured
  • Child
  • Cohort Studies
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Mice
  • Mice, Knockout
  • Mutation, Missense*
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism*
  • Neurons / metabolism*
  • Polymorphism, Single Nucleotide*
  • Protein Structure, Tertiary
  • Rats
  • Receptors, Glutamate / genetics
  • Receptors, Glutamate / metabolism*

Substances

  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins
  • GRIP1 protein, human
  • Grip1 protein, mouse
  • Grip1 protein, rat
  • Grip2 protein, mouse
  • Intracellular Signaling Peptides and Proteins
  • Nerve Tissue Proteins
  • Receptors, Glutamate