Investigation of cytochrome B mutations, and UCP2 and STC1 gene expressions in patients with bipolar disorder

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Özet

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.

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dc.contributor.authorUzunçakmak, Sevgi Karabulut
dc.contributor.authorÖzcan, Halil
dc.contributor.authorDirican, Ebubekir
dc.date.accessioned2026-10-29T19:08:20.221405412Z
dc.date.available2026-10-29T19:08:20.221405412Z
dc.date.issued2025
dc.description.abstractObjective 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.
dc.identifier.doi10.1097/ypg.0000000000000389
dc.identifier.eissn1473-5873
dc.identifier.endpage68
dc.identifier.issn0955-8829
dc.identifier.issue3
dc.identifier.pmid40207595
dc.identifier.scopus2-s2.0-105003082660
dc.identifier.startpage58
dc.identifier.urihttps://rdlopen.rawdatalibrary.net/r/bayburt/11388
dc.identifier.volume35
dc.identifier.wosWOS:001490535500006
dc.language.isoen
dc.publisherLippincott Williams and Wilkins
dc.relation.ispartofPsychiatric Genetics
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectbipolar disorder
dc.subjectmitochondria
dc.subjectmitochondrial cytochrome B
dc.subjectSTC1
dc.subjectUCP2
dc.subject.classificationGenetics & Heredity
dc.subject.classificationNeurosciences
dc.subject.classificationNeurosciences & Neurology
dc.subject.otherAdult
dc.subject.otherBipolar Disorder
dc.subject.otherCytochromes b
dc.subject.otherFemale
dc.subject.otherGene Expression
dc.subject.otherGenetic Predisposition to Disease
dc.subject.otherGlycoproteins
dc.subject.otherHumans
dc.subject.otherMale
dc.subject.otherMiddle Aged
dc.subject.otherMutation
dc.subject.otherRNA, Messenger
dc.subject.otherUncoupling Protein 2
dc.subject.othercytochrome b
dc.subject.otherlithium
dc.subject.othermessenger RNA
dc.subject.othermood stabilizer
dc.subject.otherneuroleptic agent
dc.subject.otherglycoprotein
dc.subject.otherhypocalcin
dc.subject.otherUCP2 protein, human
dc.subject.otherArticle
dc.subject.otherblood sampling
dc.subject.otherclinical article
dc.subject.othercomputer model
dc.subject.othercontrolled study
dc.subject.othercorrelation analysis
dc.subject.otherdisease severity
dc.subject.otherDNA sequencing
dc.subject.othergene
dc.subject.othergene mutation
dc.subject.otherhuman
dc.subject.otherlaboratory
dc.subject.othermRNA expression level
dc.subject.othermutation rate
dc.subject.otherphenotype
dc.subject.otherreal time polymerase chain reaction
dc.subject.otherreceiver operating characteristic
dc.subject.otherSanger sequencing
dc.subject.otherstanniocalcin 1 gene
dc.subject.othergenetic predisposition
dc.subject.othergenetics
dc.subject.othermetabolism
dc.titleInvestigation of cytochrome B mutations, and UCP2 and STC1 gene expressions in patients with bipolar disorder
dc.typeArticle
rdl.citation.openalex0
rdl.citation.scopus0
rdl.citation.wos0
rdl.departmentHealth Services Vocational School, Department of Medical Services and Techniques, Bayburt University, Bayburt
rdl.departmentFaculty of Medicine, Department of Psychiatry, Ataturk University, Erzurum
rdl.departmentFaculty of Medicine, Department of Medical Biology, Bilecik Seyh Edebali University, Bilecik, Türkiye
rdl.oa.statusgreen
rdl.oa.statuspreprint
rdl.oa.urlhttps://hdl.handle.net/11552/6380
rdl.scopus.quartileQ3
rdl.sdgSDG03
rdl.source.indexSCOPUS
rdl.source.indexWOS
rdl.source.indexPUBMED
rdl.wos.indexScience Citation Index Expanded (SCI-EXPANDED)