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Öğe Adaptive and terminal endoplasmic reticulum stress genes methylation levels in Parkinson patients' peripheral blood(Literatura Medica, 2025) Gemici, Yagmur Inalkac; Dundar, Muhammed; Gozukara, Harika Gozde; Koc, AhmetBackground and purpose-Misfolded protein stress has come to the fore among the molecular mechanisms that can cause degeneration. Whereas one of the most important protein of adaptive Endoplasmic Reticulum stress (ERS) is XBP1, CHOP and ASK proteins are associated with apoptosis and terminal ERS. To the best of our knowledge, methylation levels of adaptive and terminal ERS genes in Parkinson's Disease (PD) patients' blood are unknown. We aimed to evaluate if there is a difference in the DNA methylation levels of the ERS related protein-coding genes in peripheral blood of PD patients compared with healthy controls. The clinical significance of these gene methylation levels was evaluated as the second aim. Methods-DNA was isolated from the blood of PD patients (n=23) and controls (n=19). We used a methylation-specific qPCR approach to assess the methylation status of the ERS genes. The correlation between clinical findings and the methylation levels in PD patients were evaluated with appropriate statistical methods. Results-Terminal ERS related genes were statistically significantly hypomethylated in PD (ASK1 p=0.020, and CHOP p<0.001) whereas adaptive ERS gene XBP1's methylation level was not different between groups. Except for XBP1 and MMSE positive, and CHOP and depression negative correlation no correlation was found between clinical markers and methylation levels of the selected genes. (p=0.040, p=0.024), Conclusion-PD patients' peripheral blood methylation levels of adaptive and terminal ERS related genes are significantly different from healthy controls'. While XBP1 is known to be neuroprotective, CHOP and ASK are important proteins in apoptosis, and their methylation differences in peripheral blood provide a clue that they could be used as biomarkers in the future. Therefore, further biomarker and treatment studies should be conducted on these proteins and their pathways.Öğe Familial Mediterranean fever gene variations could trigger VPS16-associated early-onset dystonia and diabetes mellitus: clinical identification of a family with MEFV and VPS16 genetic variation association(Oxford Univ Press, 2024) Gemici, Yagmur Inalkac; Ekici, Cemal; Batum, Melike; Akbostanci, Cenk; Koc, Ahmet; Mavioglu, HaticeObjectives We describe the clinical pictures of an index case with dystonia and his family resulting from VPS16 and MEFV genetic variations based on previously published data and discuss the mechanisms that may have brought out the clinical findings. Methods A 17-year-old male had generalized dystonia that started at age 6 years, non-febrile abdominal pain attacks and was diagnosed with type 1 diabetes at age 14 years. Meanwhile, his 13-year-old sister had the same clinical presentation. His father was diabetic and his mother was asymptomatic. There was no consanguinity between the parents. Genetic variations were detected with whole exome sequencing. Results VPS16 c.1513C>T/p.Arg505* (likely pathogenic), MEFV c.2080A>G p.Met694val (pathogenic) and MEFV c.1772T>C p.Ile591Thr (unknown significance) heterozygous variants were detected in his siblings. The father had VPS16 c.1513C>T/p.Arg505* and MEFV c.2080A>G p Met694val variations and the mother had MEFV c.1772T>C p.Ile591Thr variations. Conclusions The occurrence of these diseases in siblings but their absence in the parents suggests the idea that the coexistence of two separate variations in the VPS16 and MEFV genes determines the phenotype. In addition, the increase in MEFV variation load in this family and the fact that DM occurs at an earlier age suggest that inflammation may cause an early diabetic clinical presentation.Öğe NBR and GBA Gene Methylation Levels in the Peripheral Blood of Parkinson's Disease Patients(Korean Movement Disorders Soc, 2024) Gemici, Yagmur Inalkac; Koc, Ahmet[No abstract available]Öğe TRP Channels in Tension-Type Headache: A Pilot Study(Turkish Neurological Soc, 2021) Gemici, Yagmur Inalkac; Tasci, Irem; Durmu, Kubra; Koc, AhmetTension-type headache (TTH) affects many individuals worldwide. Although the exact pathogenesis of TTH remains unclear, central, and peripheral mechanisms are considered to play a role in TTH 1. This pilot study aimed to investigate the role of transient receptor potential (TRP) channels in the development or chronic inflammation in TTH and to discuss the findings in the light of literature. This pilot study included a patient group comprising three patients with episodic TTH and three patients with chronic TTH (CTTH) aged 18-40 years with no comorbidities and a control group of three patients with no headache. Peripheral blood samples were obtained from all the participants, and both RNA and cDNA were isolated on the same day. The mRNA levels of pain-related TRP channels [TRPA1, TRP vanilloid-1 (TRPV1), TRPV3, TRPV4, TRPM3, and TRPM8] were measured by reverse transcriptase (RT)-quantititave polymerase chain reaction method and were normalized with the levels of glyceraldehyde 3-phosphate dehydrogenase (GAPDH) transcript. Results were analyzed using statistical methods. All three groups were comparable with regard to demographic characteristics. No significant difference was found among the groups with regard to the mRNA levels of the TRP channels normalized by GAPDH, whereas the TRPM8 expression levels were not significantly lower in the CTTH group than in other groups (p = 0.066). This study revealed that TRPM8 is likely to have a role in the pathogenesis of TTH, and this role of TRPM8 may be investigated by further studies.
