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Genetic variants of NMDA receptor genes in schizophrenia patients

Ales Balik, Viktor Kuchtiak

Schizophrenia is a psychiatric illness with significant adverse impact on the patient quality of life. It is known that pathophysiological  glutamatergic signaling contributes to this disorder. Our goal is to identify and study the changes in the extracellular (NTD) and intracellular (CTD) regulatory domains of NMDA receptor genes and/or genetic variants of synaptic proteins of the glutamatergic signaling complex in schizophrenia patients. Our experiments aim to characterize, at the molecular and cellular level, the influence of different genetic variants on the function of NMDA receptors and on glutamatergic signaling in general. Results of this project will help identify possible biomarkers for schizophrenia. (This project is in collaboration with prof. J. Horáček, NUDZ, Klecany.)

Volcano plots showing genomic variations found in each iGluR subclass.  The plot shows the distribution of log2odds (x-axis) and -log10(p) values (y-axis) of variants within exon regions (red), introns (green) and regulatory regions (blue).  Variants with positive log2odds values are overrepresented in schizophrenia cases (top right in the plot), negative values correspond to variant overrepresented in CTRL samples (top left).