AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

Nat Commun. 2017 Jul 4:8:15910. doi: 10.1038/ncomms15910.

Abstract

AMPA-type glutamate receptors (AMPARs), key elements in excitatory neurotransmission in the brain, are macromolecular complexes whose properties and cellular functions are determined by the co-assembled constituents of their proteome. Here we identify AMPAR complexes that transiently form in the endoplasmic reticulum (ER) and lack the core-subunits typical for AMPARs in the plasma membrane. Central components of these ER AMPARs are the proteome constituents FRRS1l (C9orf4) and CPT1c that specifically and cooperatively bind to the pore-forming GluA1-4 proteins of AMPARs. Bi-allelic mutations in the human FRRS1L gene are shown to cause severe intellectual disability with cognitive impairment, speech delay and epileptic activity. Virus-directed deletion or overexpression of FRRS1l strongly impact synaptic transmission in adult rat brain by decreasing or increasing the number of AMPARs in synapses and extra-synaptic sites. Our results provide insight into the early biogenesis of AMPARs and demonstrate its pronounced impact on synaptic transmission and brain function.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Animals
  • Brain / physiopathology*
  • Carnitine O-Palmitoyltransferase / metabolism
  • Cell Membrane / metabolism
  • Chromatography, Affinity
  • Endoplasmic Reticulum / metabolism
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / metabolism
  • Intellectual Disability / physiopathology
  • Male
  • Mass Spectrometry
  • Membrane Proteins / genetics
  • Mice
  • Microscopy, Immunoelectron
  • Mutation
  • Nerve Tissue Proteins / genetics
  • Pedigree
  • Proteomics
  • Rats
  • Receptors, AMPA / physiology*
  • Synaptic Transmission / physiology*

Substances

  • FRRS1L protein, human
  • Membrane Proteins
  • Nerve Tissue Proteins
  • Receptors, AMPA
  • CPT1B protein, human
  • Carnitine O-Palmitoyltransferase