Marek Krzystanek1,2, Marek Asman3, Joanna Witecka3, Artur Pałasz4, Ryszard Wiaderkiewicz4. 1. Department and Clinic of Psychiatric Rehabilitation, Faculty of Medical Sciences, Medical University of Silesia in Katowice, Ziołowa 45/47, 40-635, Katowice, Poland. m.krzystanek@sum.edu.pl. 2. Department of Psychiatry and Psychotherapy, Faculty of Medical Sciences, Medical University of Silesia in Katowice, Ziołowa 45/47, 40-635, Katowice, Poland. m.krzystanek@sum.edu.pl. 3. Department of Parasitology, Faculty of Pharmaceutical Sciences in Sosnowiec, Medical University of Silesia in Katowice, Jedności 8, 41-200, Sosnowiec, Poland. 4. Department of Histology, Faculty of Medical Sciences, Medical University of Silesia in Katowice, Medyków 18, 40-752, Katowice, Poland.
Abstract
BACKGROUND: Schizophrenia is a mental disease that affects approximately 1% of the population. Despite over 100 years of research, its pathomechanism has still not been clarified. Cognitive deficits, which are one of the symptomatic dimensions of schizophrenia, usually appear a few years before the first psychotic episode. Therefore, this is why they are probably the clinical manifestation of the primary pathomechanism of schizophrenia. It is also supposed that N-methyl-D-aspartate receptor (NMDA-R) insufficiency in the prefrontal cortex is responsible for cognitive deficits in schizophrenia. The study aimed to examine whether four selected single nucleotide variants in GRIN1, GRIN2A and GRIN2B encoding NMDA-R subunits, of which two have not been tested before, are linked with the selected clinical phenotype of cognitive dysfunction in schizophrenia. METHODS: The study included the targeted group of 117 patients diagnosed with schizophrenia, all with cognitive deficits and in symptomatic remission. 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. CONCLUSIONS: The finding indicates that selected single nucleotide variants in GRIN2A and GRIN2B encoding subunits of the NMDA receptor are not associated with the presence of cognitive deficits in schizophrenia.
BACKGROUND:Schizophrenia is a mental disease that affects approximately 1% of the population. Despite over 100 years of research, its pathomechanism has still not been clarified. Cognitive deficits, which are one of the symptomatic dimensions of schizophrenia, usually appear a few years before the first psychotic episode. Therefore, this is why they are probably the clinical manifestation of the primary pathomechanism of schizophrenia. It is also supposed that N-methyl-D-aspartate receptor (NMDA-R) insufficiency in the prefrontal cortex is responsible for cognitive deficits in schizophrenia. The study aimed to examine whether four selected single nucleotide variants in GRIN1, GRIN2A and GRIN2B encoding NMDA-R subunits, of which two have not been tested before, are linked with the selected clinical phenotype of cognitive dysfunction in schizophrenia. METHODS: The study included the targeted group of 117 patients diagnosed with schizophrenia, all with cognitive deficits and in symptomatic remission. 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. CONCLUSIONS: The finding indicates that selected single nucleotide variants in GRIN2A and GRIN2B encoding subunits of the NMDA receptor are not associated with the presence of cognitive deficits in schizophrenia.
Entities:
Keywords:
Cognitive deficits; NMDA receptor; Schizophrenia; Single nucleotide variants
Authors: Natalia A Shnayder; Maxim A Novitsky; Nikolay G Neznanov; Oleg V Limankin; Azat R Asadullin; Artem V Petrov; Diana V Dmitrenko; Ekaterina A Narodova; Natalia V Popenko; Regina F Nasyrova Journal: Genes (Basel) Date: 2022-03-02 Impact factor: 4.096