Maternal transmission disequilibrium of the glutamate receptor GRIK2 in schizophrenia.
ABSTRACT Schizophrenia is characterized by thought disorders, hallucinations and delusions. Genetic studies have shown a high linkage at chromosome 6q16-21. Among the genes located in this region is the glutamate receptor ionotropic kainate 2 gene (GRIK2 or GLUR6), a functional candidate for susceptibility to schizophrenia. In this study, transmission of GRIK2 was evaluated in 356 schizophrenic patients from three different clinical centers. Whereas paternal transmission shows equilibrium, we observed maternal transmission disequilibrium of GRIK2 in the largest population (p=0.03), which was still significant when all populations were added (p=0.05). These results are similar to the maternal GRIK2 transmission disequilibrium previously reported for autism, and support the presence of a susceptibility gene for schizophrenia at 6q16.
- Hum Mol Genet. 04/2012;
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ABSTRACT: Autism spectrum disorder (ASD) is a group of developmental disabilities characterized by impairments in social interaction and communication and restricted and repetitive interests/behaviors. Advances in human genomics have identified a large number of genetic variations associated with ASD. These associations are being rapidly verified by a growing number of studies using a variety of approaches, including mouse genetics. These studies have also identified key mechanisms underlying the pathogenesis of ASD, many of which involve synaptic dysfunctions, and have investigated novel, mechanism-based therapeutic strategies. This review will try to integrate these three key aspects of ASD research: human genetics, animal models, and potential treatments. Continued efforts in this direction should ultimately reveal core mechanisms that account for a larger fraction of ASD cases and identify neural mechanisms associated with specific ASD symptoms, providing important clues to efficient ASD treatment.Frontiers in Molecular Neuroscience 01/2013; 6:19.
Chapter: Kainate Receptors[Show abstract] [Hide abstract]
ABSTRACT: Kainate receptors are glutamate-gated ion channels whose functional roles in the brain have been only poorly understood until recently. A picture has developed over the last decade of kainate receptors as subtle actors in neurotransmission; they modulate excitatory and inhibitory transmission and neuronal excitability and generate small but prolonged depolarizations at a subset of postsynaptic sites. This chapter reviews a variety of aspects of kainate receptor function, including their structure, biophysical function, and activities in (and out) of synapses in the mammalian brain.02/2008: pages 99-158;