CYB mtDNA mutations and expression status of genes in the PI3K/AKT/mTOR signaling pathway in patients with schizophrenia

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dc.contributor.authorDirican, Ebubekir
dc.contributor.authorUzuncakmak, Sevgi Karabulut
dc.contributor.authorOzcan, Halil
dc.date.accessioned2024-10-04T18:49:25Z
dc.date.available2024-10-04T18:49:25Z
dc.date.issued2022
dc.departmentBayburt Üniversitesien_US
dc.description.abstractPurpose: 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 inen_US
dc.identifier.doi10.17826/cumj.1186118
dc.identifier.endpage1708en_US
dc.identifier.issn2602-3032
dc.identifier.issn2602-3040
dc.identifier.issue4en_US
dc.identifier.startpage1695en_US
dc.identifier.trdizinid1149716en_US
dc.identifier.urihttps://doi.org/10.17826/cumj.1186118
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/1149716
dc.identifier.urihttp://hdl.handle.net/20.500.12403/3127
dc.identifier.volume47en_US
dc.identifier.wosWOS:000910852700037en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isotren_US
dc.publisherCukurova Univ, Fac Medicineen_US
dc.relation.ispartofCukurova Medical Journalen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCellen_US
dc.subjectApoptosisen_US
dc.subjectDnaen_US
dc.titleCYB mtDNA mutations and expression status of genes in the PI3K/AKT/mTOR signaling pathway in patients with schizophreniaen_US
dc.typeArticleen_US

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