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    MEFV mutations and their relation to major clinical symptoms of Familial Mediterranean Fever
    (ELSEVIER SCIENCE BV, 2017) Cekin, Nilgun; Akyurek, Murat Eser; Pinarbasi, Ergun; Ozen, Filiz
    Familial Mediterranean fever is a common hereditary disease in Turkey. To date, different mutational spectrum of MEFV gene was observed in studies carried out in different regions of Turkey but in most of these studies association of clinical symptoms of FMF to mutant genotypes have not been investigated in details. Here we report the MEFV gene variations in exons 2, 3, 5 and 10 and their relations to major clinical symptoms of FMF in 514 unrelated (245 males and 269 females) Turkish patients. MEFV mutations were found in 45% (n = 230) of patients and 55% (n = 284) of patients did not have any mutations. One hundred and thirty-seven (60%) patients were heterozygous, 57 (24.7%) patients were compound heterozygous, 33 (14%) patients were homozygous and 3 (1.3%) patients were having a complex genotype. Allele frequencies of MEFV mutations were M694V (48%), E148Q (18%), M6801 (15%), V726A (12.5%), P369S (3.3%), R761H (0.9), K695R (0.9), E148V (0.9) and A744S (0.5%). Abdominal pain (76%) and fever (58%) were two most seen complications among patients followed by arthritis (28%) and chest pain (19%). Almost all major clinical symptoms of FMF were higher in patients with one or more M694V or M680I mutant allele. In contrast, patients having E148Q or V726A mutant allele showed fewer clinical FMF symptoms. Patients with P369S have higher abdominal pain, chest pain and fever than expected. Arthritis was high in K695R heterozygous genotype. One hundred and eighteen patients were carrying more than one polymorphic allele. The most common polymorphism was R202Q (13%). In addition, a novel heterozygous polymorphism at 564th nucleotide (C > T) of exon2 were found in 2 patients.
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    RNA N6-Methyladenosine Pathway Writer Genes Expression Levels and Clinical Severity of Infection in Covid-19 Patients
    (Pleiades Publishing Inc, 2023) Arslan, Badel; Baltaci, Sevgi; Bayyurt, Burcu; Sahin, Nil Ozbilum; Akyurek, Murat Eser; Bakir, Mehmet; Arslan, Serdal
    Epigenetic modifications are known to be effective in the severity and mortality rate of SARS-CoV-2 infection. N6-methyladenosin (m6A) is a posttranscriptional modification that is carried out by m6A methyltransferases (METTL3, METTL14, and WTAP). This modification is effective in the formation of a natural immune response in the relationship between the viral genome and the host cell. In this study, the relationship between clinical severity and METTL3, METTL14, WTAP expression levels in Covid-19 patients was studied for the first time. Also, patients' D-dimer, ferritin, and C-reactive protein values were compared with these gene expression levels. Total RNA was extracted from blood samples of 100 volunteers and gene expressions were measured using a quantitative real-time polymerase chain reaction. It was determined that METTL3 (p < 0.001) and METTL14 (p = 0.005) genes were statistically significant between case and control. In addition, METTL14 (p = 0.007) and WTAP (p = 0.015) gene expressions were significantly increased in patients with severe disease. METTL14 was statistically significant between the male patients and the control (fold change = 63.87, p = 0.015). Overexpression of the METTL14 gene may have resulted in higher clinical severity in males. Our results demonstrate that host N6-methyladenosine (m6A) methyltransferases may be effective in the development of SARS-CoV-2 infection and prognosis of the disease.