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Use of Electronic Health Records, Disease Registries, and Health Insurance Databases in Ophthalmology
Published in Ching-Yu Cheng, Tien Yin Wong, Ophthalmic Epidemiology, 2022
Rachel Marjorie Wei Wen Tseng, Grace May Chuang, Zhi Da Soh, Yih-Chung Tham
In a recent study, Unlu et al. utilized biobanks, EHRs, and zebrafish models to study the genetics underlying eye diseases (31). By applying computational genetic analyses to the EHR-linked biobank BioVU, the researchers identified associations between expression of GRIK5 gene and eye diseases. GRIK5 had previously been studied mostly in the context of central nervous system signaling and is known to encode for the glutamate ionotropic receptor kainite-type subunit 5. Thus, its implication in 18 eye diseases, including retinal detachment, various forms of retinal defects, cataracts, and glaucoma, sheds light on a novel role of the gene. Unlu and colleagues applied gene editing to lower or deplete expression of GRIK5 in zebrafish and found smaller eyes and decreased vascular integrity, shown by increased vessel leakage and decreased blood vessels. With these results in mind, the researchers reviewed Vanderbilt’s EHRs and insurance claims for confirmation of comorbidity of eye and vascular diseases.
A kainate receptor GluK4 deletion, protective against bipolar disorder, is associated with enhanced cognitive performance across diagnoses in the TwinsUK cohort
Published in The World Journal of Biological Psychiatry, 2019
Maria Koromina, Miles Flitton, Ian R. Mellor, Helen Miranda Knight
Kainate receptors are ionotropic glutamate receptors involved in cellular functions necessary for learning and memory, such as synaptic plasticity, long-term potentiation and neurotransmission (Bortolotto et al. 1999; Schmitz et al. 2003; Bortolotto et al. 2005; Lerma and Marques 2013; Sihra and Rodriguez-Moreno 2013; Sihra et al. 2014). They are composed of tetrameric combinations of five subunits (GluK1-GluK5; encoded by GRIK1-GRIK5) and modulated by auxiliary proteins Neto1 and Neto2 (Lerma et al. 2001; Jane et al. 2009; Traynelis et al. 2010; Han et al. 2016; Kristensen et al. 2016; Li et al. 2016). We have previously reported GRIK4/GluK4 as a breakpoint gene disrupted in a complex chromosomal rearrangement in a patient diagnosed with schizophrenia co-morbid with learning disability (Pickard et al. 2006, 2008). Subsequent case–control genetic studies led to the identification of a 14-base pair deletion variant (indel) (rs869187535) within the 3′ untranslated region of the gene which was negatively associated with bipolar disorder (Pickard et al. 2006; Knight et al. 2012).
Ionotropic glutamate receptors in platelets: opposing effects and a unifying hypothesis
Published in Platelets, 2021
Maggie L. Kalev-Zylinska, Marie-Christine Morel-Kopp, Christopher M. Ward, James I. Hearn, Justin R. Hamilton, Anna Y. Bogdanova
KAR are structurally and functionally similar to AMPAR [2]. There are five possible KAR subunits (GluK1–GluK5) encoded by GRIK1–GRIK5 genes; only GluK1 and GluK2 are expressed in platelets (Tables I and II) [19]. RNA editing of GRIK transcripts can render KAR Ca2+-impermeable in a similar fashion to editing of GRIA2 (Figure 1A and C). Like AMPAR, KAR respond quickly to glutamate release into the synapse and support mostly influx of Na+; however, KAR current is marginally slower and smaller than AMPAR (Figure 1D). KAR interact with the ancillary proteins including Neto and GRIP1 that stabilize the receptor in the plasma membrane and support signaling downstream (Table I) [2,36].