C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca<sup>2+</sup>-permeable AMPA receptor-mediated excitotoxicity.
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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. |
Year of Publication | :
2018
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Journal | :
Nature communications
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Volume | :
9
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Issue | :
1
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Number of Pages | :
347
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Date Published | :
2018
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URL | :
http://dx.doi.org/10.1038/s41467-017-02729-0
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DOI | :
10.1038/s41467-017-02729-0
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Short Title | :
Nat Commun
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