Selected single-nucleotide variants in GRIN1 , GRIN2A , and GRIN2B encoding subunits of the NMDA receptor are not biomar
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Selected single‑nucleotide variants in GRIN1, GRIN2A, and GRIN2B encoding subunits of the NMDA receptor are not biomarkers of schizophrenia resistant to clozapine: exploratory study Marek Krzystanek1 · Marek Asman2 · Joanna Witecka2 · Artur Pałasz3 · Ryszard Wiaderkiewicz3 Received: 5 April 2020 / Revised: 17 September 2020 / Accepted: 23 September 2020 © The Author(s) 2020
Abstract Background Schizophrenia is a common mental illness whose pathogenesis is still unknown. The vulnerability and stress model in schizophrenia assume that susceptibility to the disease is mainly associated with genes. Of the five symptomatic dimensions of schizophrenia, cognitive impairment appears to be most associated with the pathogenesis of schizophrenia. The aim of the study was to explore whether selected nucleotide variants in GRIN1, GRIN2A, and GRIN2B encoding subunits of the N-methyl-d-aspartate receptor (NMDA-R) receptor occur in a selected group of patients with treatment resistant schizophrenia with cognitive impairment. Methods The study included 45 patients diagnosed with super refractory schizophrenia, all with cognitive deficits and chronically psychotic. DNA fragments including the studied polymorphisms of the NMDA receptors subunit genes were amplified by polymerase chain reaction and subjected to sequencing. Results The study did not confirm the presence of any of the four selected single-nucleotide variants in GRIN1, GRIN2A, and GRIN2B subunits of NMDA-R in the study group. Conclusion Results of the study indicated that the selected single-nucleotide variants are not associated both with resistance to clozapine and the presence of cognitive deficits in schizophrenia. It is possible, however, that a more extensive sequencing along with analyzing the expression of these genes may reveal different single-nucleotide variants than those assumed in the study. Keywords Clozapine-resistant schizophrenia · NMDA receptor · Cognitive deficits · Single-nucleotide variants
Introduction * Marek Krzystanek [email protected]; [email protected] Marek Asman [email protected] Artur Pałasz [email protected] 1
Department and Clinic of Psychiatric Rehabilitation, Department of Psychiatry and Psychotherapy, Faculty of Medical Sciences, Medical University of Silesia in Katowice, Ziołowa 45/47, 40‑635 Katowice, Poland
2
Department of Parasitology, Faculty of Pharmaceutical Sciences in Sosnowiec, Medical University of Silesia in Katowice, Jedności 8, 41‑200 Sosnowiec, Poland
3
Department of Histology, Faculty of Medical Sciences, Medical University of Silesia in Katowice, Medyków 18, 40‑752 Katowice, Poland
Due to the unknown pathogenesis of schizophrenia, its treatment still faces great difficulties. Although resistance to treatment in schizophrenia is defined as the persistence of symptoms despite at least two antipsychotic treatments, with the assumption that drugs are taken by patients at an adequate dose and for an adequate time, it can occur from the first episode of sch
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