Abstract
BackgroundSchizophrenia 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.MethodsThe 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.ResultsThe study did not confirm the presence of any of the four selected single nucleotide variants in GRIN1, GRIN2A and GRIN2B subunits of NMDA-R.ConclusionsThe 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.
Highlights
The pathomechanism of schizophrenia remains an unexplained mystery of psychiatry
It is estimated that the cumulative effect of single nucleotide variants (SNVs) explains only about 30% of the genetic risk of developing schizophrenia [1]
DNA fragments including the studied polymorphisms of the NMDA receptors subunit genes were amplified by polymerase chain reaction (PCR) and analyzed using the ABI Prism 310 capillary sequencer (Applied Biosystem, USA) according to the Applied Biosystem protocol
Summary
The pathomechanism of schizophrenia remains an unexplained mystery of psychiatry. Probably either the etiology of schizophrenia is complex, or it is a group of diseases with different pathomechanisms, clinical picture and prognosis. Despite previously reported mutations, were identified in GRIN1 gene Their associations with selected clinical phenotype of cognitive deficit in schizophrenia and other psychiatric syndromes need to be still confirmed. In this work, we decided to look for another not studied yet variant in the sequence of GRIN1, rs11146020/ NG_011507.1:g.4476G > C/5′UTR in association with the selected clinical phenotype of cognitive deficit in schizophrenia. In contrast to GRIN1, no SNVs in GRIN2A gene have been reported, in OMIM, in associations with schizophrenia and with a clinical phenotype of cognitive deficit in schizophrenia. An analysis of the four SNVs in the three genes encoding the NMDA-Rs subunits prompted us to aim on verifying whether persistence of cognitive dysfunctions despite the remission of other symptoms of schizophrenia may be a schizophrenia clinical phenotype associated with selected single nucleotide variants in the genes of NMDA-Rs’ subunits
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