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- MakaleAçık Erişim2025Does Lrig1 expression have a relationship with ERBB1 and ERBB2 expression in schizophrenia?
Uzunçakmak, Sevgi Karabulut; Özcan, Halil; Aydin, Pelin; Halici, Zekai
Purpose: This study aims to investigate Lrig1 expression and to reveal the possible relationship between Lrig1, ERBB1 and ERBB2 in schizophrenia. Materials and Methods: In this study, peripheral blood samples of 70 schizophrenia patients and 60 healthy controls were used. Real Time PCR was applied for Lrig1, ERBB1 and ERBB2 gene expression analysis. Results: The level of Lrig1 mRNA was lower in the patients when compared to healthy controls. Expression levels of ERBB1 and ERBB2 were decreased in the patients versus in the healthy controls. According to the receiver operating characteristic curve analysis, the three genes had the power to discriminate the patients from the ERBB1 and ERBB2 expressions in the patients. in schizophrenia.
- MakaleAçık Erişim2025Scopus SJRQ3Investigation of cytochrome B mutations, and UCP2 and STC1 gene expressions in patients with bipolar disorder
Uzunçakmak, Sevgi Karabulut; Özcan, Halil; Dirican, Ebubekir
Objective The aim herein was to investigate mitochondrial cytochrome B (MT-CYB) mutations in individuals with bipolar disorder. Stanniocalcin-1 (STC1) and uncoupling protein 2 (UCP2) mRNA expressions and their relationship with clinical data and each other were also investigated. Method The blood samples of 100 individuals were included in this study. Real-time PCR was used to evaluate mRNA expressions of STC1 and UCP2. Genetic alterations were investigated via Sanger DNA sequencing. An in silico analysis was performed to reveal the phenotypic effects of MT-CYB mutations. Results In the MT-CYB gene of the bipolar disorder patients, the most seen mutations were the T194A A>G mutation at position 1532, G deletion at position 15498, and C>A L236I mutation at position 15452. Most of the mutations appeared to be neutral or benign. The UCP2 and STC1 mRNA expression levels were significantly higher in the patients than in the healthy controls (P = 0.0124 and P < 0.0001, respectively). The area under the curve values of the receiver operating characteristic curve analysis for UCP2 and STC1 were 0.6631 (P = 0.0123) and 0.8059 (P < 0.0001), respectively. No significant relationship was observed between the gene expressions and the routine laboratory findings. There was a positive correlation between the UCP2 and STC1 mRNA expressions in the bipolar disorder patients (r = 0.03559, P = 0.0306). Conclusion Expression of UCP2 and STC1 may be important parameters in bipolar disorder. MT-CYB mutations may be related to gene expressions. Comprehensive studies on bipolar disorder will help better understand UCP2 and STC1 gene functions.
- MakaleAçık Erişim2024Scopus SJRQ2Evaluating STC-1 and STC-2 mRNA expressions in Schizophrenia patients with increased oxidative stress; [Évaluation des expressions d'ARNm de STC-1 et STC-2 chez des patients schizophrènes présentant un stress oxydatif accru]
Karabulut Uzunçakmak, Sevgi; Özcan, Halil; Dirican, Ebubekir; Tavacı Özçelik, Ayşegül
Introduction: Schizophrenia is a chronic psychiatric disorder characterized by cognitive impairment. Oxidative stress is associated with disease progression in patients with schizophrenia. Stanniocalcin (STC)-1 and STC-2 are two proteins commonly expressed in mammals belonging to the stanniocalcin family and they are involved in oxidative stress. The aim of this study is to investigate STC-1 and STC-2 mRNA expressions in schizophrenia patients with altered oxidative stress parameters. Methods: For this purpose, 70 patients with schizophrenia and 40 healthy individuals were recruited for the study. Peripheral blood samples were obtained from all participants. Glutathione (GSH) activities, superoxide dismutase (SOD) activities, and malondialdehyde (MDA) levels were measured. STC-1 and STC-2 expressions were assessed by real-time polymerase chain reactions. Results: SOD activity levels were lower in patients than in healthy individuals (p = 0.0309), while the patients’ MDA levels were higher (p = 0.039). STC-1 and STC-2 expressions were lower in patients than in healthy individuals (p = 0.1049 and p < 0.0001, respectively). Furthermore, these two genes had a positive correlation among the patients (r = 0.435, p = 0.0025). According to area under the curve (AUC) values, STC-2 (AUC = 0.8332, p < 0.0001) had better diagnostic power than STC-1 (AUC = 0.6167, p = 0.1037). Conclusions: The expression of stanniocalcins in schizophrenia was investigated here for the first time. Decreased STC-2 expression in patients with schizophrenia with increased oxidative stress parameters may guide the understanding of the pathophysiological mechanisms caused by oxidative stress, which may be increased in cognitive diseases such as schizophrenia, and it also has the potential to be a prognostic factor that can be used in the diagnosis of schizophrenia.
- MakaleAçık Erişim2023Scopus SJRQ2Evaluation Expression of the Caspase-3 and Caspase-9 Apoptotic Genes in Schizophrenia Patients
Dirican, Ebubekir; Özcan, Halil; Uzunçakmak, Sevgi Karabulut; Takım, Uğur
Objective: Apoptosis is programmed cell death that occurs by several pathways. Caspase-3 is induced by active caspase-9 via the intrinsic pathway. The aim of this research was to explore the expression of caspase-3 and caspase-9 in schizophrenia patients and healthy samples. Methods: RNA was isolated from the peripheral blood of 39 schizophrenia patients’ and healthy samples. After cDNA synthesis, real time PCR (RT-PCR) was used to analyse caspase-3 and caspase-9 gene expression. The severity of psychopathological symptoms of schizophrenia was evaluated using the Positive and Negative Symptoms Scale for schizophrenia (PANSS) and Clinical Global Impressions (CGI). Results: The expression of caspase-3 and caspase-9 genes was higher in schizophrenia patients than in healthy samples (p = 0.012, p = 0.002, respectively). The increase in caspase-3 gene expression was significant with being male, smoking and with a duration of less than 6 years (p = 0.047, p = 0.049, p = 0.034, respectively). On the other hand, the increase in caspase-9 gene expression was significant in patients who is smoke, have children, and are under 33 years old (p = 0.040, p = 0.043, p = 0.045, respectively). A significant positive correlation was detected between the caspase-3 and caspase-9 gene expression (r = 0.3218, p = 0.049). Conclusion: Our findings indicate that caspase-3 and caspase-9 gene expression may activate cell death mechanisms by intrinsic apoptotic genes. Furthermore, caspase-3 and caspase-9 may play essential roles in different ways in schizophrenia. Hence there is a need to further study the apoptotic mechanism with expanded patient populations.
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İncele - MakaleAçık Erişim2022CYB mtDNA mutations and expression status of genes in the PI3K/AKT/mTOR signaling pathway in patients with schizophrenia
Dirican, Ebubekir; Uzunçakmak, Sevgi Karabulut; Özcan, Halil
Purpose: This study aimed to screen for cytochrome b (CYB) mitochondrial DNA (mtDNA) mutations and analyze the mRNA expressions of genes in the PI3K/AKT/mTOR signaling pathway in patients with schizophrenia. Materials and Methods: In this study, whole blood was obtained from 44 schizophrenic patients and 41 healthy individuals for DNA (patients) and RNA (patients and control) isolation. Samples for CYB mtDNA mutations were amplified by PCR and identified by Sanger DNA sequencing. RT-PCR and 2- increment increment Ct method was used for mRNA expression of PIK3CA, AKT1, and mTOR genes. Results: In schizophrenia patients, m.15326 A > G (43/44), m.15452 C > A (5/44), m.15078 A > G (3/44), m.14872 C > T (3/44) and m.14798 T > C (3/44) was the most common CYB mtDNA mutations. In silico analysis showed that some of the mutations were associated with the harmful, disease-causing or benign character. The mRNA expression of the PIK3CA, AKT1, and mTOR genes in schizophrenia patients was significantly higher than in healthy individuals. There was a significant moderate positive correlation between the PIK3CA and AKT1 genes. In addition, by ROC analysis, PIK3CA, AKT1 and mTOR genes were found to have good diagnostic power in the patient group. ROC analyzes showed that PIK3CA in particular has significant diagnostic value for schizophrenia patients with 80% sensitivity and 63.4% specificity. Conclusion: Both of CYB mtDNA mutations frequency and PIK3CA, AKT1 and mTOR mRNA expression were higher in schizophrenic patients compared to healthy individuals. We believe that studying these mechanisms in
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