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- 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 Erişim2023Scopus SJRQ2Relation of ATPase6 Mutations and Telomere Length in Schizophrenia Patients
Uzuncakmak, Sevgi Karabulut; Dirican, Ebubekir; Ozcan, Halil; Takim, Ugur
Objective: Schizophrenia is a serious mental disorder. Mutations in mitochondrial genes can change energy metabolism. Telomere is a tandem sequence at the end of chromosomes. Shorter telomere length has been shown in schizophrenia. The aim of this study was to determine the relationship between ATPase6 gene mutations and telomere length in schizophrenia patients. Methods: Blood samples of 34 patients and 34 healthy controls were used. In this study conventional PCR, Sanger sequencing technic and real-time PCR were utilized. Results: Five different mutations (A8860G, A8836, G8697A, C8676T, and A8701G) in the ATPase6 gene were identified in schizophrenia patients. The most seen mutation was A8860G (94%). Telomere length analysis indicated the relation of ATPase6 gene mutations and telomere length variations (p = 0.001). Patients carrying the A8860G mutation had shorter telomere lengths than patients carrying other mutations. Comparing telomere length between schizophrenia patients and healthy controls revealed that the mean telomere length of schizophrenia patients was shorter than healthy controls (p = 0.006). The demographic analysis demonstrated a significant relationship between marital status and telomere length (p = 0.011). Besides that, the duration of the illness is another factor that impacts telomere length (p = 0.044). There is no significant relation between telomere length and other clinical and demographic characteristics including education status, age, gender, etc. Conclusion: In conclusion, telomere length and ATPase6 gene mutations have a significant relation. Studies with larger patient populations and investigation of other mitochondrial gene mutations will make the clearer link between telomere length and mitochondrial mutations.
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