Balkan Journal of Medical Genetics

INVESTIGATION OF FASCICULATION AND ELONGATION PROTEIN ζ-1 (FEZ1) IN PERIPHERAL BLOOD REVEALS DIFFERENCES IN GENE EXPRESSION IN PATIENTS WITH SCHIZOPHRENIA
Vachev TI1, Stoyanova VK, Ivanov HY, Minkov IN, Popov NT
*Corresponding Author: Associate Professor Vili K. Stoyanova, M.D., Ph.D., Department of Pediatrics and Medical Genetics, Medical University ‒ Plovdiv, 15A Vasil Aprilov St., 4000 Plovdiv, Bulgaria. Tel: +359-32- 602-431; Fax: +359-32-602-593. E-mail: vi1sto@abv.bg
page: 31

RESULTS

In order to identify whether a key DISC1 (interacting partner gene) FEZ1 expression is altered in SZ patients we performed a detailed analysis of peripheral blood samples. To test this, we evaluated FEZ1 mRNA levels in SZ patients. As the data were normally distributed, we performed two-tailed t-test. A statistically significant difference of FEZ1 mRNA level was revealed (p = 0.0068) (Figure 2). Relative quantification (RQ) calculations were done using the 2‒Ct method [16]. The results clearly demonstrate down-regulation of FEZ1 mRNA levels in SZ patients. The data are presented as the fold change in gene expression normalized to an endogenous reference gene and relative to the healthy control patients (Figure 3). The observed differences in individual expression levels clearly demonstrate the heterogeneity in the expression profile of the analyzed gene that is in agreement with the results observed in inter-patient variation in the expression studies by other authors. The PCR amplification of the specific products corresponding to ACTB and FEZ1 amplicons was confirmed by monitoring the dissociation curve (Figure 4). The Spearman test did not manage to reveal any significant correlation with age and sex in the tested groups (p = 0.65/p = 0.54). The ROC also displayed good characterization of state prediction with AUC = 0.728, (p = 0.0011) (Figure 5). All this was consistent with a key role of FEZ1 protein as interacting partner with DISC1 as SZ susceptibility genes (Figure 1A), and FEZ1 protein partners involved in neurogenesis as shown in Gene Ontology (GO) Biological Processes (p = 0.063) (Figure 1B).

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