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Title: Glutamate receptor mutations in psychiatric and neurodevelopmental disorders
Author: Soto del Cerro, David
Altafaj, Xavier
Sindreu Balet, Carlos
Bayés, Àlex
Keywords: Receptors de neurotransmissors
Malalties mentals
Discapacitats mentals
Neurotransmitter receptors
Mental illness
People with mental disabilities
Issue Date: 6-Feb-2014
Publisher: Landes Bioscience
Abstract: 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.
Note: Reproducció del document publicat a:
It is part of: Communicative & Integrative Biology, 2014, vol. 7, num. 1, p. e27887
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ISSN: 1942-0889
Appears in Collections:Articles publicats en revistes (Fonaments Clínics)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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