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Commun Integr Biol. 2014 Jan 1;7(1):e27887. doi: 10.4161/cib.27887. Epub 2014 Feb 6.

Glutamate receptor mutations in psychiatric and neurodevelopmental disorders.

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Laboratori de Neurobiologia; Institut d'Investigació Biomèdica de Bellvitge (IDIBELL) Feixa Llarga; L'Hospitalet de Llobregat; Barcelona, Spain.
Institut de Neuropatologia; Institut d'Investigació Biomèdica de Bellvitge (IDIBELL); L'Hospitalet de Llobregat, Barcelona, Spain.
Department of Pharmacology; Universitat de Barcelona; Barcelona, Spain.
Molecular Physiology of the Synapse Laboratory; Biomedical Research Institute Sant Pau (IIB Sant Pau); Barcelona, Spain ; Universitat Autònoma de Barcelona; Bellaterra (Cerdanyola del Vallès), Spain.


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.


Glutamate receptors; intellectual disability; neurodevelopmental disorders; psychiatric disorders

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