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    Association among ABCA7 Gene Polymorphism, rs3764650 and Alzheimer's Disease in the Turkish Population
    (Canadian Soc Clinical Investigation, 2015) Oznur, Murat; Hatipoglu, Omer F.; Ayturk, Zubeyde; Dede, Serap; Akbas, Kubra; Aydin, Duygu; Urhan, Ayse
    Purpose: Alzheimer's disease (AD), the most common form of dementia, is an irreversible and progressive neurodegenerative disease that is characterized by the progressive loss of cognitive functions, behavioral and psychological disorders and a decrease in daily routine activities. Among people aged 65 years and over, AD is steadily increasing. Genome-wide association studies have shown that various gene polymorphisms are highly associated with the pathogenesis of AD. Among them, ABCA7 gene polymorphism has been identified as one of the genetic risks. The purpose of this study was to investigate the relationship among ABCA7 gene polymorphism, rs3764650 and AD, and to determine if it could be use as a biomarker for AD susceptibility in the Turkish population. Methods: Peripheral blood samples of 54 Alzheimer's patients and 57 control subjects were collected. Genomic DNA was isolated by SDS/proteinase K treatment followed by phenolchloroform extraction and ethanol precipitation. The presence of the ABCA7 gene rs3764650 polymorphism was investigated by PCR-RFLP and selected samples were confirmed by DNA sequencing. Results: In the Turkish population, the ABCA7 gene rs3764650 polymorphism did not show a significant association with AD when compared with the control group (p>0.05). APOE-epsilon 3 allele frequencies were higher in both AD patients and control subjects (76.85% and 84.21%, respectively). Conclusion: Both previously published studies and our current study did not cover the complete genetic variation in the gene. To detect variants that are disease-related, studies with larger sample sizes are needed.
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    Investigation of MACC1 Gene Expression in Head and Neck Cancer and Cancer Stem Cells
    (Canadian Soc Clinical Investigation, 2016) Evran, Ebru; Sahin, Hilal; Akbas, Kubra; Cigdem, Sadik; Gunduz, Esra
    Purpose: By investigating the MACC1 gene (metastasis-associated in colon cancer 1) in cancer stem cells (CSC) resistant to chemotherapy and in cancer stem cells (CSC) resistant to chemotherapy and in cancer cells (CS) sensitive to chemotherapy we determineda steady expression in both types of cells in head and neck cancer. In conformity with the result we examined if this gene could be a competitor gene for chemotherapy. According to literature, the MACC1 gene shows a clear expression in head and neck cancer cells [1]. Here we examined MACC1 expression in CSC and investigated it as a possible biomarker. Methods: Our experiments were performed in the UT -SCC -74 in primary head and neck cancer cell line. We examined the MACC -1 gene expression by Real Time PCR from both isolated CSC and CS. Results: Expression of MACC -1 gene of cancer stem cells showed an two-fold increase compared with cancer cells. Based on the positive expression of MACC1 in both CS and CSC, this gene may serve as a potential biomarker in head and neck cancer. By comparing the results of this study with the novel features of MACC1, two important hypotheses could be examined. The first hypothesis is that MACC1 is a possible transcripton factor in colon cancer, which influences a high expression of CSC in head and neck and affects the expression of three biomarkers of the CSC control group biomarkers. The second hypothesisis is that the positive expression of MACC1 in patients with a malignant prognosis of tongue cancer, which belongs to head and neck cancer types, operates a faster development of CSC to cancer cells.