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    Potential genetic biomarkers in the early diagnosis of Alzheimer disease: APOE and BIN1
    (Tubitak Scientific & Technological Research Council Turkey, 2015) Kaya, Gulhan; Gunduz, Esra; Acar, Muradiye; Hatipoglu, Omer Faruk; Acar, Burcu; Ilhan, Atilla; Gunduz, Mehmet
    Background/aim: Alzheimer disease (AD) is triggered by interactions of multiple genetic and environmental factors. The APOE gene E4 allele is the best-known risk factor for AD, yet it represents a small ratio of genetic factors. According to genome-wide association studies, the BIN1 gene is the second important risk factor for AD, following the APOE gene. We aimed to identify a novel biomarker indicating susceptibility to AD by investigating APOE alleles and BIN1 gene polymorphisms in a Turkish population. Materials and methods: Fifty-three AD patients and 56 controls were included to examine polymorphism and allele frequency of the APOE and BIN1 genes. Genomic DNAs were isolated from whole blood by SDS/proteinase K treatment, phenol-chloroform extraction, and ethanol precipitation. RFLP was done for identification of polymorphisms in the APOE gene and allele-specific PCR was used for the BIN1 gene. Results: Frequency of the APOE E4 allele was higher in the AD patient group, while the frequency of the E2 allele was higher in controls. The E4/E4 genotype was detected in the AD patient group, while this genotype was not observed in the controls. The frequencies of BIN1 alleles were similar in both groups. Conclusion: There was a strong association between AD and the APOE E4 allele, while no such relation was observed with BIN1 gene polymorphism.
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    The effects and interactions of APOE and APH-1A polymorphisms in Alzheimer disease
    (Tubitak Scientific & Technological Research Council Turkey, 2015) Acar Cinleti, Burcu; Yardimci, Nilgul; Ayturk, Zubeyde; Ilhan, Atilla; Kaya, Gulhan; Acar, Muradiye; Koc, Emine Rabia
    Background/aim: Alzheimer disease (AD) is characterized by the accumulation of senile plaques composed of amyloid beta-peptide, which is derived from beta-amyloid precursor protein through degradation by beta-secretase and.-secretase complexes. One of the major components of gamma-secretase complex, anterior pharynx-defective-1 (APH-1), is responsible for the activity of the.-secretase complex. In this study, we searched for not only the most known common genetic risk factor, APOE, but also the APH-1a gene polymorphism in AD patients in a Turkish population. Materials and methods: In this study, 49 AD patients and 45 healthy controls were included. The genetic polymorphisms and allele frequencies of APOE and APH-1a were investigated. Patients were evaluated for behavioral, cognitive, and functional domains by detailed neurocognitive tests, and comparison between the above-mentioned polymorphisms and disease severity was made. Results: Although there was an increased tendency of the APO epsilon 4 allele in the AD group, no statistically significant difference was detected either in APOE or APH-1a polymorphisms, not suggesting a strong susceptibility to the development of AD. Conclusion: While searching for the pathogenesis of AD in order to develop novel diagnostic as well as therapeutic approaches, analysis of other genes with a possible role in AD is warranted.