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.accessioned2025-03-23T19:27:39Z
dc.date.available2025-03-23T19:27:39Z
dc.date.issued2022
dc.departmentSinop Üniversitesi
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 in
dc.identifier.doi10.17826/cumj.1186118
dc.identifier.endpage1708
dc.identifier.issn2602-3032
dc.identifier.issn2602-3040
dc.identifier.issue4
dc.identifier.scopusqualityN/A
dc.identifier.startpage1695
dc.identifier.urihttps://doi.org/10.17826/cumj.1186118
dc.identifier.urihttps://hdl.handle.net/11486/4958
dc.identifier.volume47
dc.identifier.wosWOS:000910852700037
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.language.isotr
dc.publisherCukurova Univ, Fac Medicine
dc.relation.ispartofCukurova Medical Journal
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WOS_20250323
dc.subjectCell
dc.subjectApoptosis
dc.subjectDna
dc.titleCYB mtDNA mutations and expression status of genes in the PI3K/AKT/mTOR signaling pathway in patients with schizophrenia
dc.typeArticle

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