2026-04-17T05:14:37Zhttps://recercat.cat/oai/request

oai:recercat.cat:2445/1089232025-12-05T05:46:45Zcom_2072_1057col_2072_478824col_2072_478916col_2072_478917

00925njm 22002777a 4500 dc Soto del Cerro, David author Altafaj, Xavier author Sindreu Balet, Carlos author Bayés, Àlex author 2017-03-27T08:10:57Z 2017-03-27T08:10:57Z 2014-02-06 2017-03-27T08:10:58Z 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. Receptors de neurotransmissors Malalties mentals Neurologia Discapacitats mentals Neurotransmitter receptors Mental illness Neurology People with mental disabilities Glutamate receptor mutations in psychiatric and neurodevelopmental disorders