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    Lack of association between catechol-Omethyltransferase and schizophrenia in a Turkish population
    (Turkish Biochemistry Society, 2015) Acar, Ceren; Sözen, Mustafa Mert; Gözükara, Harika; Orman, Kübra; Kartalcı, Şükrü
    Objective: Catechol-O-methyltransferase (COMT) is the key molecule in the catabolism of catecholamines like dopamine which is an important molecule in schizophrenia. Due to its function and location COMT gene is a strong candidate gene for schizophrenia. The aim of this study was to investigate the possible associations of 3 COMT single nucleotide polymorphisms (SNPs) and schizophrenia in our population. COMT enzyme activity is regulated by a widely known Val158Met polymorphism (rs4680), along with the variation of the SNPs rs737865 and rs165599. Methods: Val158Met polymorphism (rs4680), the SNPs rs737865 and rs165599 were the targets of this study. The study was performed with 96 patients (66 male and 30 female) and 100 controls (47 male and 53 female) from Malatya region on eastern part of Turkey by using TaqMan genotyping assays. Results: We couldn’t find a significant difference between the schizophrenia patients and normal controls for any of the SNPs that were studied. The genotype frequencies in both the patient and control groups satisfied the Hardy– Weinberg equilibrium. No significant gender differences were observed for the SNPs that were investigated. No significant difference was observed in the allele or genotype frequencies as well. Conclusion: COMT gene doesn’t appear to be a risk factor in this population of schizophrenia patients in Turkey. © 2015, Turkish Biochemistry Society. All rights reserved.
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    Lipoid proteinosis and epilepsy: Molecular analysis
    (2019) Tecellioğlu, Mehmet; Kamışlı, Özden; Acar, Ceren; Mergen, Hatice; Sözen, Mustafa Mert; Karaduman, Tuğçe; Saraç, Gülbahar; Erbay, Mehmet Fatih
    Abstract: Aim: Lipoid proteinosis (LP) is also known as Urbach-Wiethe disease which is a rare autosomal recessive disorder characterized by intracellular accumulation of hyaline material in skin and mucosae. LP has typical neurological, dermatological and radiological findings. The pathogenesis of disease is unknown. In literature several cases have been reported up to date. Mutations in extracellular matrix protein 1 (ECM1) gene have been found to cause the disease. We evaluated the molecular features of a family diagnosed with LP and evaluate the known and novel mutations of LP. Material and Methods: Genomic DNA was extracted from peripheral blood of the patients and family members including clinically normal parents and two siblings of the two affected subjects by using a commercial DNA extraction kit. Polymerase chain reaction was performed for all 10 exons of ECM1 gene by using the primers defined. Results: All of the exons of the ECM1 gene were sequenced and this revealed a 2-bp deletion in exon 7 of the ECM1 gene in both patients and both parents. Patients have the homozygous 2-bp deletions (c735del TG) and the parents and two healthy siblings showed heterozygous 2-bp deletion. Conclusions: Our patients found to be homozygous for the deletion in ECM1 gene. In order to understand the molecular pathology of the disease in detail, further functional analysis of the mutations should be performed.
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    Presence of a genetic association between NRG-3 SNP rs17101193 and schizophrenia
    (2020) Sözen, Mustafa Mert; Acar, Ceren; Kartalcı, Şükrü
    Abstract: Aim: NRG-3 gene is a member of neuregulin signaling pathway and alleles of several single nucleotide polymorphisms (SNP) located in this gene are suspected to be associated with schizophrenia. During this work, we have done a study to investigate the potential association of the SNP rs17101193 of NRG-3 gene. Material and Methods: We used the DNA samples from 301 unrelated schizophrenia patients and 326 healthy control samples collected from Malatya-Turkey to determine the SNP genotypes. After genotyping, we compared the genotypes and alleles in terms of distributions between cases and controls. We also applied the recessive models for both alleles to get a more clarified result. We used Chi-Squared test and Fisher’s exact test for hypothesis testing. Results: Even though the difference between the case and control groups were not significant in context of distributions of two alleles of rs17101193, the distributions of genotypes were significantly different (p = 0.046). On the other hand, one of the genotypes (AA) was seen only in the patients. Conclusion: The results of our analyses and statistical test indicated that rs17101193 SNP of NRG-3 gene has a potential to be associated with schizophrenia and homozygosity of “A” allele seems to be a risk factor in our population. More evidence from separate case-control studies from different populations may be required to strengthen this idea.
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    Screening of ERBB4 SNP rs1026882 in a group of Schizophrenia patients and controls
    (2022) Yıldırım, Özgü Topaktaş; Kartalcı, Şükrü; Sözen, Mustafa Mert
    Schizophrenia is a multifactorial psychiatric disorder which is affected by genetic, environmental, and several other factors. ERBB4 is a gene with polymorphic sites which reported to be associated with schizophrenia. In this prospective study, we have tested the association of schizophrenia with one of the single nucleotide polymorphisms (SNP) called rs1026882 in the ERBB4 gene. We have screened the genotypes of rs1026882 in a case group consisted of 96 schizophrenia patients and 100 healthy controls. All samples were collected from the population living in Malatya-Turkey. First, we compared the distributions of SNP genotypes and alleles between the case and control groups, then between the subgroups of patients defined according to SAPS and SANS parameters and phenotypical outcomes of the disease. Even though there was no significant difference between the case and control groups, comparing the subgroups of patients revealed that, the CC genotype was more common than the CT through the patients showing avolition-apathy symptom (one of the parameters in SANS). In addition, TT genotype was significantly more frequent in the subgroup of patients exhibiting the phenotype of suicidal thoughts.Our study was limited with a relatively small sample size and a population living in a small geographical region. Therefore, screening of rs1026882 genotypes in larger case-control groups from different populations is thought to help to reveal stronger evidence for presence of the association between this SNP and schizophrenia phenotypes. As conclusion, we did not find a direct association between rs1026882 genotype and schizophrenia in general, but the TT genotype was associated with the phenotype of suicidal thoughts, and the CC genotype seems related to avolition-apathy symptom in our sample.