Glutamate receptor mutations in psychiatric and neurodevelopmental disorders

David Soto, Xavier Altafaj, Carlos Sindreu, Àlex Bayés

    Research output: Contribution to journalReview articleResearchpeer-review

    13 Citations (Scopus)


    © 2014 Landes Bioscience. Alterations in glutamatergic neurotransmission have long been associated with psychiatric and neurodevelopmental disorders (PNDD), but only recent advances in high-throughput DNA sequencing have allowed interrogation of the prevalence of mutations in glutamate receptors (GluR) among afflicted individuals. In this review we discuss recent work describing GluR mutations in the context of PNDDs. Although there are no strict relationships between receptor subunit or type and disease, some interesting preliminary conclusions have arisen. Mutations in genes coding for ionotropic glutamate receptor subunits, which are central to synaptic transmission and plasticity, are mostly associated with intellectual disability and autism spectrum disorders. In contrast, mutations of metabotropic GluRs, having a role on modulating neural transmission, are preferentially associated with psychiatric disorders. Also, the prevalence of mutations among GluRs is highly heterogeneous, suggesting a critical role of certain subunits in PNDD pathophysiology. The emerging bias between GluR subtypes and specific PNDDs may have clinical implications.
    Original languageEnglish
    Article numbere27887
    Pages (from-to)e27887-1-e27887-6
    JournalCommunicative and Integrative Biology
    Issue number1
    Publication statusPublished - 1 Jan 2014


    • Glutamate receptors
    • Intellectual disability
    • Neurodevelopmental disorders
    • Psychiatric disorders


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