Browsing by Author "Dincer, Selin Akad"

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    Evaluation of silent information regulator T (SIRT) 1 and Forkhead Box O (FOXO) transcription factor 1 and 3a genes in glaucoma
    (2020) Yaman, Derya; Takmaz, Tamer; Yuksel, Nilay; Dincer, Selin Akad; Sahin, Feride Iffet; 0000-0001-7308-9673; 0000-0002-3808-7004; 33200312; AAK-2511-2021; AAC-7232-2020
    Analysis of the reactive oxygen species (ROS)-detoxifying biomarkers may elucidate the mitochondrial dysfunction in glaucoma pathogenesis. Therefore, we purposed to investigate the effects of ROS-detoxifying molecules including Silent Information Regulator T1 (SIRT1) and Forkhead Box O 1 (FOXO1) and 3a (FOXO3a) transcription factors in patients with glaucoma. Our analyses included 20 eyes from patients with primary open-angle glaucoma (POAG) and 20 eyes from patients with pseudoexfoliation glaucoma (PXG) who were scheduled for trabeculectomy. After extraction of total RNA from trabecular meshwork tissue, we compared the levels of SIRT1, FOXO1and FOXO3a genes in the oxidative pathway with the level of glyceraldehyde-3 phosphate dehydrogenase (GAPDH), the reference gene, using real-time polymerase chain reaction. Relative gene expression was calculated using the threshold cycle (2(-Delta Delta CT)) method. We observed similarly reduced expression levels of SIRT1, FOXO1, and FOXO3a genes versus GAPDH among patient groups (p = 0.40; p = 0.56; p = 0.35, respectively). This is the first study to identify the role of SIRT1 and FOXOs in human TM with glaucoma. Relative expression levels of SIRT1, FOXO1, and FOXO3a genes versus a control gene (GAPDH) were decreased in POAG and PXG groups. Our results show that SIRT1and FOXOs (1-3a) deserve special attention in the pathogenesis of glaucoma.
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    Immune and inflammatory genes possibly involved in the pathogenesis of severe COVID-19
    (2021) Beksac, Burcu; Dincer, Selin Akad; Avdullahi, Egzon; Yaman, Derya; Terzi, Yunus Kasim; Babakurban, Seda Turkoglu; Celik, Zerrin Yilmaz; Tasci, Canturk; Sahin, Feride Iffet
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    Investigation of ARHGEF12 Single Nucleotide Polymorphism in Hypercholesterolemia and Primary Open Angle Glaucoma
    (2020) Yaman, Derya; Takmaz, Tamer; Dincer, Selin Akad; Sahin, Feride Iffet; 0000-0001-7308-9673; AAK-2511-2021; AAC-7232-2020
    Objective:To investigate the effect of single nucleotide polymorphism rs58073046 A>G within the ARHGEF12 gene in patients with hypercholesterolemia and primary open angle glaucoma. Methods: Blood samples of 20 patients with high serum cholesterol and primary open angle glaucoma (Group 1), 20 sex and age matched healthy subjects (Group 2) as controls were enrolled to the study. The ARHGEF12 gene polymorphism was determined by polymerase chain reaction and DNA sequence analysis. The data were assessed by descriptive statics and Fisher exact x(2) test. Results: The homozygous wild type genotype (AA) was identified in 95 % of Group 1 versus 100 % of Group 2. The homozygous mutant genotype (GG), presented the highest prevelance in Group 1 (5%), although the difference was not statistically significant between groups (p=0.5). Conclusion: This is the first study to identify the role of ARHGEF12 gene variant in the risk of hypercholesterolemia and POAG. Our results showed that there is no association between rs58073046 A>G polymorphism and disease development.
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    Investigation of Toll Like Receptor-7 Gene (TLR-7) Mutations in COVID-19 Patients
    (2021) Dincer, Selin Akad; Beksac, Burcu; Avdullahi, Egzon; Yaman, Derya; Terzi, Yunus Kasim; Babakurban, Seda Turkoglu; Celik, Zerrin Yilmaz; Tasci, Canturk; Sahin, Feride Iffet
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    MLPA Method does not Always Confirm the Results of aCGH: A Study of KANSL1 Gene Deletion Patients
    (2022) Dincer, Selin Akad; Celik, Zerrin Yilmaz; Erol, Ilknur; Sahin, Feride Iffet; AAC-8356-2020
    Background: Microdeletion and microduplications are detected on chromosomes as a pathological subgroup of copy number variants of DNA. It has become easierto identify such chromosomal syndromes after use of array-based comparative genomic hybridization technology. One of them is the 17q21.31 microdeletion and microduplication syndrome. A 500-650 kb sized copy loss on 17q21.31 results in a phenotype which was described as Koolen-de Vries Syndrome including mental retardation, epilepsia, hypotonia and characteristic facial features. Today, we know that haplo-insufficiency of KANSL1 gene located in this region is responsible for these findings. A total of 30 patients with KANSL1 deletion detected during aCGH analyses were enrolled in the current study. All patients were analyzed by Multiplex Ligation-Dependent Probe Amplication (MLPA) method in order to confirm the results. Results: Three of the 30 patients had KANSL1 gene deletion detected by both methods and duplication was found in one patient. Conclusion: As a result of the study, we concluded that although new generation molecular methods enable us to obtain big and valuable data, each method has its own limitations and confirming the reults with another method increases test reliability. Using together of these methods are useful for the geneticists during diagnosis, clinical assessment and genetic counseling of patients.