C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity

Nat Commun. 2018 Jan 24;9(1):347. doi: 10.1038/s41467-017-02729-0.

Abstract

Mutations in C9ORF72 are the most common cause of familial amyotrophic lateral sclerosis (ALS). Here, through a combination of RNA-Seq and electrophysiological studies on induced pluripotent stem cell (iPSC)-derived motor neurons (MNs), we show that increased expression of GluA1 AMPA receptor (AMPAR) subunit occurs in MNs with C9ORF72 mutations that leads to increased Ca2+-permeable AMPAR expression and results in enhanced selective MN vulnerability to excitotoxicity. These deficits are not found in iPSC-derived cortical neurons and are abolished by CRISPR/Cas9-mediated correction of the C9ORF72 repeat expansion in MNs. We also demonstrate that MN-specific dysregulation of AMPAR expression is also present in C9ORF72 patient post-mortem material. We therefore present multiple lines of evidence for the specific upregulation of GluA1 subunits in human mutant C9ORF72 MNs that could lead to a potential pathogenic excitotoxic mechanism in ALS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics
  • C9orf72 Protein / genetics*
  • C9orf72 Protein / metabolism
  • CRISPR-Cas Systems
  • Calcium / metabolism
  • DNA Repeat Expansion
  • Gene Targeting
  • Humans
  • Motor Neurons / pathology*
  • Receptors, AMPA / genetics
  • Receptors, AMPA / metabolism*
  • Spinal Cord / metabolism
  • Spinal Cord / physiopathology

Substances

  • C9orf72 Protein
  • C9orf72 protein, human
  • Receptors, AMPA
  • Calcium
  • glutamate receptor ionotropic, AMPA 1