Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia
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Pharmacological, genetic and expression studies implicate N-methyl-D-aspartate (NMDA) receptor hypofunction in schizophrenia (SCZ). Similarly, several lines of evidence suggest that autism spectrum disorders (ASD) could be due to an imbalance between excitatory and inhibitory neurotransmission. As part of a project aimed at exploring rare and/or de novo mutations in neurodevelopmental disorders, we have sequenced the seven genes encoding for NMDA receptor subunits (NMDARs) in a large cohort of individuals affected with SCZ or ASD (n=429 and 428, respectively), parents of these subjects and controls (n=568). Here, we identified two de novo mutations in patients with sporadic SCZ in GRIN2A and one de novo mutation in GRIN2B in a patient with ASD. Truncating mutations in GRIN2C, GRIN3A and GRIN3B were identified in both subjects and controls, but no truncating mutations were found in the GRIN1, GRIN2A, GRIN2B and GRIN2D genes, both in patients and controls, suggesting that these subunits are critical for neurodevelopment. The present results support the hypothesis that rare de novo mutations in GRIN2A or GRIN2B can be associated with cases of sporadic SCZ or ASD, just as it has recently been described for the related neurodevelopmental disease intellectual disability. The influence of genetic variants appears different, depending on NMDAR subunits. Functional compensation could occur to counteract the loss of one allele in GRIN2C and GRIN3 family genes, whereas GRIN1, GRIN2A, GRIN2B and GRIN2D appear instrumental to normal brain development and function.
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Treatment of adult rodents with NMDAR antagonists triggers acute schizophrenia-related behaviours, including deficits in attention/vigilance, learning and memory, and sensory gating.
“As in humans, treatment of adult rodents with NMDAR antagonists triggers acute schizophrenia-related behaviours, including deficits in attention and/ or vigilance, learning and memory and sensory gating, broadly mimicking the symptoms of patients with schizophrenia 10,15,23,24 .”
From Linking early-life NMDAR hypofunction and oxidative stress in schizophrenia pathogenesis (2016) · cites this paper as [23]
Exome sequencing revealed schizophrenia-linked de novo mutations in GRIN2A and GRIN2B.
“Exome sequencing has revealed schizophrenia-linked de novo mutations in GRIN2A and GRIN2B [Tarabeux, 2011 #3386;Myers, 2011 #3486]”
From Linking early-life NMDAR hypofunction and oxidative stress in schizophrenia pathogenesis (2016) · cites this paper as Tarabeux, 2011 #3386
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- Authors
- Tarabeux, J., Kebir, O., Gauthier, J., Hamdan, F. F., Xiong, L., Piton, A., Spiegelman, D., Henrion, É., Millet, B., S2D team, Fathalli, F., Joober, R., Rapoport, J. L., DeLisi, L. E., Fombonne, É., Mottron, L., Forget-Dubois, N., Boivin, M., Michaud, J. L., Drapeau, P., Lafrenière, R. G., Rouleau, G. A., & Krebs, M.-O.
- Affiliations
- Centre Hospitalier de l’Université de Montréal (CA)
- CHU Sainte-Justine Research Center (CA)
- Inserm (FR)
- Douglas Mental Health University Institute (CA)
- Harvard University (US)
- Research Unit on Children's Psychosocial Maladjustment (CA)
- Centre Hospitalier Sainte-Anne (FR)
- Corresponding author
- Rouleau, G A
- Krebs, M-O
- ORCID
- Venue
- Translational Psychiatry
- Published
- 2011-11-15
- Volume
- 1
- Issue
- 11
- Pages
- e55-e55
- ISSN
- 2158-3188 (ISSN-L)
- PMC
- PMC3309470
- OpenAlex
- W2103535314
- Cited by
- 231
- References
- 61
- Citations by year
- 2026: 11 · 2025: 9 · 2024: 12 · 2023: 13 · 2022: 19 · 2021: 17 · 2020: 24 · 2019: 14 · 2018: 19 · 2017: 22 · 2016: 19 · 2015: 20 · 2014: 19 · 2013: 9 · 2012: 3
- FWCI
- 6.19
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by-nc-nd
- www.springer.com/tdm (unspecified)
- Locations
- Translational Psychiatry (publishedVersion, cc-by-nc-nd)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- HAL (submittedVersion)
- eScholarship@McGill (McGill) (submittedVersion)
- Funders
- Genome Canada
- Fondation Pierre Deniker pour la Recherche et la Prévention en Santé Mentale
- Canadian Institutes of Health Research
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- NMDA receptor, autism spectrum disorder, schizophrenia, de novo mutations, rare mutations, GRIN2A, NR2B subunit, GRIN3A, GRIN1, GRIN2D, excitation-inhibition balance, neurodevelopmental disorders, intellectual disability, truncating mutations, functional compensation
- MeSH terms
- Alleles, Child, Child Development Disorders, Pervasive, Female, Multigene Family, Humans, Male, Mutation, Nerve Tissue Proteins, Schizophrenia, Cohort Studies, Receptors, N-Methyl-D-Aspartate, Gene Deletion
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