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Browsing by Author "Çam F.S."

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The future of medicine: Molecular medicine in a changing world
(2004) Çam F.S.
[No abstract available]
Hypertrophic cardiomyopathy: Pathological features and molecular pathogenesis
(2004) Çam F.S.; Cüray M.
Hypertrophic cardiomyopathy (HCM) is a heterogeneous genetic cardiac disorder with various genotypic and phenotypic manifestations, and is often a diagnostic challenge. Although more than forty years have passed since the first description of HCM, a variety of mutations in genes encoding sarcomeric proteins, that cause the disease have been defined by laboratory and clinical studies over the past few years. The fact that HCM is the most common cause of sudden death in young competitive athletes and that it is actually an important cause of morbidity and mortality in people of all ages, has made the researchers to concentrate more on the molecular basis and treatment strategies of the disease. This study aims to summarize both pathological features and rapidly evolving molecular genetics of HCM, and so to understand this not infrequently seen, complex disorder better.
Hypertrophic cardiomyopathy: The pathological features and the molecular pathogenesis (multiple letters) [4]
(2005) Davutoǧlu V.; Çam F.S.; Güray M.
[No abstract available]
Association of platelet-activating factor acetylhydrolase gene polymorphism with premature coronary artery disease in Turkish patients
(2006) Şekuri C.; Çam F.S.; Tengiz I.; Ercan E.; Bayturan Ö.; Berdeli A.
Objective: Platelet-activating factor (PAF) is a phospholipid with multiple actions that is involved in inflammatory diseases as well as in atherogenesis. It is inactivated by a plasma enzyme, PAF-acetylhydrolase (PAF-AH). Deficiency of this enzyme in plasma is caused by a missense mutation in the gene (G994T). The aim of this study was to investigate association of this mutation with premature coronary artery disease (CAD). Methods: One hundred and fifteen unrelated Turkish patients with a diagnosis of premature CAD and 128 unrelated healthy subjects were enrolled in this study. Genotyping was performed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Results: The prevalence of the G994T mutation in the patients was 2.60 % (heterozygote), and 0 % in the controls. There was no significant difference in allele frequency and genotype distribution among the study groups. Conclusion: The G9943T mutation in the plasma PAF acetylhydrola se gene is not associated with premature CAD in Turkish subjects.
G protein β3 subunit gene polymorphism in Turkish hypertensives
(2008) Alioǧlu E.; Ercan E.; Tengiz I.; Yildiz A.; Saygi U.ö.T.S.; Çam F.S.; Berdeli A.
Objective: G protein is one of the most important regulators of intracellular signaling pathways. C825T polymorphism of G protein β3 subunit is associated with increased intracellular signal transduction. The 825T allele has been found associated with a variety of cardiovascular risk factors, including hypertension. The aim of the present study was to investigate the association between the C825T polymorphism of the G protein β3 subunit and essential hypertension in Turkish population. Methods: This cross-sectional, case-controlled study included 209 patients with essential hypertension (Patient group) and 82 subjects with normal blood pressure (Control group). The G protein β3 subunit C825T gene polymorphism was determined by polymerase chain reaction. Hypertension was defined according to JNC VII criteria. Statistical analysis was performed using Chi square and unpaired t tests. Logistic regression analysis was used to study association between hypertension and genotypes. Results: We found that the frequencies of the G protein β3 subunit C825T polymorphism in hypertensive and control groups were 17.7%, 59.3%, 23.0% and 32.9%, 48.8%, 18.3%, (CC, CT, TT) respectively (χ2=7.963, p=0.019). In the multivariate logistic regression analysis CT genotype had 2.2 (OR=2.262, 95% CI 1.228-4.167, p=0.009), and TT genotype had 2.3 times (OR=2.335, 95% CI 1.089-5.008, p=0.029) greater risk of hypertension compared to CC genotype. Conclusion: It seems that the G protein β3 subunit C825T gene polymorphism is associated with systolic a diastolic blood pressure. Furthermore, the study indicates that the G protein β3 subunit may be a susceptible gene to essential hypertension.
Personality traits and DRD4, DAT1, 5-HT2A gene polymorphisms in risky and non risky sports participation; [Riskli ve risksiz sporlara katılımda kişilik özellikleri ile DRD4, DAT1, 5-HT2A gen polimorfizmleri]
(Turkiye Klinikleri, 2010) Çam F.S.; Çolakoǧlu M.; Tok S.; Tok I.; Kutlu N.; Berdeli A.
Objective: Relationships amongst Big Five personality traits and DRD4, DAT1 and 5-HT2A gene polymorphisms were investigated in 193 college students participating in risky and non-risky sports. Material and Methods: Personality traits were assessed by Five Factor Personality Inventory (FFPI) and gene polymorphisms were analyzed by polymerase chain reaction. Results: In order to examine whether signifant Big Five personality trait differences existed between DAT1 gene polimorphisms, independent sample t-test was used. Results showed that only Agreeableness dimension revealed significant difference indicating that individuals with non-10/10 genotype had higher agreeableness scores when compared to individuals with 10/10 genotype. ANOVA results showed that Big Five personality dimensions scores differed significantly amongst 5-HT2A genotypes. Individuals with CC genotype had lower emotional stability scores when compared to individuals with TC genotype, and CC genotype individuals had greater openness to experience scores when compared to TT genotype individuals. Openness to experience scores were also significantly different among DRD4 genotypes. Individuals with ll genotype had greater openness to experience scores when compared to individuals with ss genotype. No 5-HT2A and risky sport participation (RSP) interaction effect was found on emotional change score. Conclusion: DAT1 was not associated with RSP. It was concluded that DRD4 and 5-HT2A were not directly associated with RSP but may be used as indirect predictors of it. © 2010 by Türkiye Klinikleri.
Association of angiotensin-converting enzyme I/D and eNOS G894T gene polymorphisms with erectile dysfunction; [Converting enzim I/D ve eNOS G894T gen polimorfızmlerinin erektil disfonksiyon ile ilişkisi]
(Turkiye Klinikleri, 2011) Çam F.S.; Gümüş B.H.; Var A.; Berdeli A.
Objective: Recent studies suggest that angiotensin II and nitric oxide (NO) may modulate penile smooth muscle tone and contractility. Because genotypes of the angiotensin converting enzyme (ACE) and endothelial nitric oxide synthase (eNOS) polymorphisms have been associated with disorders in the vascular system, in this study, we investigated an association between the ACE I/D and eNOS G894T gene polymorphisms and erectile dysfunction (ED). Material and Methods: A total of 44 patients and 45 control subjects were included in the study. Diagnosis of erectile dysfunction (< 26) was provided by International Index of Erectile Function (IIEF). The ACE I/D ve eNOS G894T gene polymorphisms were genotyped using PCR and RFLP. Results: No significant case-control difference was observed for the ACE I/D and eNOS G894T gene polymorphisms either by genotype or allele frequencies [(ACE I/D-X2= 0.930 p= 0.628) and eNOS 894 G/T-X2= 2.114 p = 0.348)]. In addition, there was no significant difference between ACE I/D (X2= 3.174 p= 0.787) and eNOS G894T (X2= 4.320 p= 0.633) and IIEF scores among the patient group. Conclusion: In this study, no association was found between ACE I/D and eNOS G894T gene polymorphisms and erectile dysfunction in the Turkish population studied. © 2011 by Türkiye Klinikleri.
Triple A syndrome with clinical and genetic findings: A case report; [Klinik ve genetik bulgulari ile triple A sendromu: Bir vaka takdimi]
(Cocuk Sagligi ve Hastaliklan Dergisi, 2014) Appak Y.Ç.; Çam F.S.; Şahin G.E.; Uluçay S.; Huebner A.; Kasirga E.
Triple A syndrome (Allgrove syndrome) is a rare autosomal recessive disease characterized by achalasia, alacrima, adrenal insufficiency, and progressive neurological syndrome. This syndrome is caused by mutations in the achalasia-addisonianism-alacrima syndrome (AAAS) gene in the chromosome 12q13 region. We present a nine-year-old boy who had vomiting and progressive dysphagia since six years of age. Achalasia was determined with barium esophagography and esophagus manometric investigation. He had positive Schirmer test (<5 mm) and bilateral optic disc atrophy. The patient's serum cortisol levels were normal and cortisol response was low with ACTH stimulation test. Genetic analysis revealed a homozygous mutation (c.1066-1067delCT) in exon 11 of the AAAS gene, and her younger brother and sister were heterozygous carriers of this mutation. For treatment of achalasia, calcium channel blocker therapy was started, and botulinum toxin was applied to the distal esophagus. The patient's vomiting decreased but continued; his symptoms resolved after the implementation balloon dilation of the esophagus. © 2014, Cocuk Sagligi ve Hastaliklan Dergisi. All rights reserved.
Analysis of physical activity intensity, alexithymia, and the COMT val 158 met gene polymorphism
(Kamla-Raj Enterprises, 2014) Zekioglu A.; Çam F.S.; Mutlutürk N.; Berdeli A.; Çolakoglu M.
The researchers investigated the relationship between intense training, the catechol-Omethyltransferase (COMT) Val108/158Met gene polymorphism, and alexithymia. Eighteen female and 77 male athletes were included. The Toronto Alexithymia Scale (TAS) questionnaire and polymerase chain reaction method were used to evaluate alexithymia and the COMT gene Val108/158Met polymorphism, respectively. Fifteen (15.8%) subjects were evaluated as alexithymic and 80 (84.2%) were non-alexithymic according to the TAS. The COMT Vall08/158 Met gene polymorphism frequencies were as follows: 17.9% Met/Met, 50.5% Val/Met, and 31.6% Val/Val. No difference were observed among training intensity, the COMT Vall08/158 Met gene polymorphism, and alexithymia(p > 0.05). However, 60% of the alexithymic subjects trained intensively and only 6.7% trained lightly. Intensive and light training rates for non-alexithymic athletes were 46.3% and 20%, respectively. The Val/ Val and Met/Met genotyping rates for athletes engaged in intensive training were 32.6% and 29.3%. In conclusion, no significant relationship was observed among TAS scores, the COMT gene polymorphism, and training intensity. © Kamla-Raj 2014.
The attitudes of medical students toward the elderly; [Tip fakültesi öğrencilerinin yaşlilara karşi tutumlari]
(Geriatrics Society, 2015) Elbi H.; Altan S.; Rahman S.; Cengiz Özyurt B.; Şahin S.; Çam F.S.
Introduction: Health workers must be prepared for the changes and developments due to the ever-increasing proportion of elderly individuals within the general population. This study aimed to identify the general attitudes of students of the Faculty of Medicine of Celal Bayar University (CBU) toward senility and evaluate differences in the attitudes of students at different stages of medical education. Materials and Method: This study was conducted between October and December 2014 and included a total of 406 students attending the Faculty of Medicine of the CBU. A questionnaire form composed of three sections was used to collect data. Results: The age range of study participants was 18-27 years (average age, 21.04 years) 60.8% were females, and 91.4% had a nuclear family structure. When assessing overall UCLA scores according to the stage of medical education, the average scores of first-year students were found to be higher than other year groups. The results of the UCLA questionnaire demonstrated significantly higher overall scores concerning attitudes toward older persons in female students compared with male students. No significant differences in KOGAN questionnaire scores concerning attitudes toward older people were observed between male and female students. Conclusion: The findings of the present study indicate that attitudes toward the elderly change negatively as students progress through medical education. In addition, female students had more positive attitudes toward elderly patients than male students. Considering the expectations from the healthcare providers of the elderly population, who are more fragile compared to normal individuals, it should be envisaged that the responsibilities of physicians have increased. © 2015, Geriatrics Society. All rights reserved.
A novel association between TGFβ1 and ADAMTS4 in coronary artery disease: A new potential mechanism in the progression of atherosclerosis and diabetes
(AVES, 2015) Uluçay S.; Çam F.S.; Batır M.B.; Sütçü R.; Bayturan Ö.; Demircan K.
Objective: Coronary artery disease is characterized by atherosclerosis in the vessel wall. Recently, it has been thought that increasing LDL-binding capacity of subendothelial proteoglycan fragments that are formed by protease activity can be responsible for the initiation of atherosclerosis. ADAMTS4 is a member of the versican-degrading proteinases. In vitro studies demonstrated that TGFb inhibits the expression of ADAMTS4 in macrophages. In this study, we aimed to investigate the role and association between TGFβ1 and ADAMTS4 in coronary artery disease. Methods: A total of 84 cases with atheroma plaque and 72 controls without plaque were analyzed. The severity of disease was determined by Gensini score. TGFβ1 gene polymorphisms were genotyped by the PCR-RFLP method. TGFβ1 and ADAMTS4 serum levels were measured by ELISA method. Statistical analyses of genotypes and their relationship with serum levels were performed by chi-square, student t test and ANOVA. Results: ADAMTS4 levels were higher in cases compared with controls (p<0.05). In the patient group, ADAMTS4 levels were higher than in controls and correlated with TGFβ1 serum levels (r=0.29; p<0.05) and severity of disease (r=0.20; p<0.05). The TGFβ1 gene CCA haplotype was associated with 3.3-fold increase in coronary artery disease (OR=3.26 95% CI 1.22-8.68; p<0.05). Unexpectedly, ADAMTS4 serum levels were also higher in diabetic cases (p=0.05). Conclusion: This study has demonstrated that ADAMTS4 may be responsible for the pathogenesis of atherosclerosis. This is the first report about the association between ADAMTS4 and TGFβ1 serum levels in the progression of atherosclerosis in CAD. Furthermore, it is seen that TGFβ1 haplotype can cause a genetic susceptibility to CAD in the Turkish population. To our knowledge, this is also the first report suggesting higher serum ADAMTS4 levels in diabetic patients. © 2015 by Turkish Society of Cardiology.
A novel association between TGFb1 and ADAMTS4 in coronary artery disease: A new potential mechanism in the progression of atherosclerosis and diabetes
(2015) Uluçay S.; Çam F.S.; Batır M.B.; Sütçü R.; Bayturan Ö; Demircan K.
OBJECTIVE: Coronary artery disease is characterized by atherosclerosis in the vessel wall. Recently, it has been thought that increasing LDL-binding capacity of subendothelial proteoglycan fragments that are formed by protease activity can be responsible for the initiation of atherosclerosis. ADAMTS4 is a member of the versican-degrading proteinases. In vitro studies demonstrated that TGFb inhibits the expression of ADAMTS4 in macrophages. In this study, we aimed to investigate the role and association between TGFb1 and ADAMTS4 in coronary artery disease.; METHODS: A total of 84 cases with atheroma plaque and 72 controls without plaque were analyzed. The severity of disease was determined by Gensini score. TGFb1 gene polymorphisms were genotyped by the PCR-RFLP method. TGFb1 and ADAMTS4 serum levels were measured by ELISA method. Statistical analyses of genotypes and their relationship with serum levels were performed by chi-square, student t test and ANOVA.; RESULTS: ADAMTS4 levels were higher in cases compared with controls (p<0.05). In the patient group, ADAMTS4 levels were higher than in controls and correlated with TGFb1 serum levels (r=0.29; p<0.05) and severity of disease (r=0.20; p<0.05). The TGFb1 gene CCA haplotype was associated with 3.3-fold increase in coronary artery disease (OR=3.26 95% CI 1.22-8.68; p<0.05). Unexpectedly, ADAMTS4 serum levels were also higher in diabetic cases (p=0.05).; CONCLUSION: This study has demonstrated that ADAMTS4 may be responsible for the pathogenesis of atherosclerosis. This is the first report about the association between ADAMTS4 and TGFb1 serum levels in the progression of atherosclerosis in CAD. Furthermore, it is seen that TGFb1 haplotype can cause a genetic susceptibility to CAD in the Turkish population. To our knowledge, this is also the first report suggesting higher serum ADAMTS4 levels in diabetic patients.
Clinicopathological characteristics and mutation profile of BRAF and NRAS mutation in cutaneous melanomas in the Western Turkish population
(Turkiye Klinikleri Journal of Medical Sciences, 2018) Evrenos M.K.; Temiz P.; Çam F.S.; Yaman M.; Yoleri L.; Ermertcan A.T.
Background/aim: Malignant melanoma is the most common cause of death due to skin cancers. The most common mutations in RAFRAS pathway from tumor oncogenes are BRAF and NRAS. In this study, we analyzed the frequency of BRAF and NRAS gene mutations and investigated their association with clinicopathological features of melanomas in the Turkish population. Materials and methods: 65 primary cutaneous melanoma were included in the study. The mutations were evaluated with real-time PCR-based PCR-array through allele-specific amplification, and the results were correlated with various clinicopathological characteristics. Results: 52.3% of the patients were female and 47.7% were male. The mean age of the patients with a mutation was lower than those without mutation. 16 patients had BRAF mutation. 12 patients had NRAS mutation. NRAS mutation was statistically more common in men (P = 0.036). The number of mitoses increased with the increase of the tumor thickness (P = 0.003). There was more mitosis in the presence of ulceration (P = 0.05). A total of 41.7% of NRAS mutations had adjuvant chemotherapy. Conclusion: We found lower mutation rate when compared to regional studies. NRAS mutation was common in men. This is the first study from our region evaluating the prognostic value of clinical stage and necessity of adjuvant treatment with the presence of BRAF and NRAS mutations. © TÜBİTAK.
Evaluation of serum MicroRNA expression profiles in patients with panic disorder
(Taylor and Francis Ltd., 2019) Çökmüş F.P.; Özmen E.; Alkin T.; Batir M.B.; Çam F.S.
BACKGROUND: Studies on the role of microRNAs (miRNA) in anxiety disorders are limited. We aimed to determine the availability of miRNAs as biomarkers in serum and to demonstrate the changes of miRNAs expression in patients with panic disorder (PD). METHODS: Thirty-five patients with PD and 35 healthy controls (HC) were evaluated with Structured Clinical Interview for DSM Disorders-I (SCID-I) and Panic Disorder Severity Scale (PDSS). In each group miRNA expression analysis was performed in venous blood by the Real-time Polymerase Chain Reaction (RT–PCR) method for genetic evaluation. RESULTS: Compared with the HC group, eight miRNA expression levels were found different in the PD group. Five of them were upregulated and three of them were downregulated. There was no correlation between the levels of miRNA expression with PDSS total score and PDSS sub-items. However, miR-1297 and miR-4465 expression levels were significantly different between the two groups. LIMITATIONS: There are some limitations in this research. Firstly the number of samples is small. Another limitation of our study is that the presence of medical illness and continuous drug use were not excluded when PD and HC groups were selected. CONCLUSIONS: Our research is the first miRNA expression study in patients with PD which excluded psychotropic use and additional psychiatric disorders. In the PD group, miR-1297 and miR-4465 expression was upregulated than compared to the HC group. miR-1297 and miR-4465 regulate the GABAA gene regions that affect GABA A receptor subtypes that thought to play a role in the aetiology of PD. © 2018, © 2018 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group.
Evaluation of the CRISPR/Cas9 directed mutant TP53 gene repairing effect in human prostate cancer cell line PC-3
(Springer, 2019) Batır M.B.; Şahin E.; Çam F.S.
Prostate cancer is a common health problem among men worldwide and most of these prostate cancer cases are related to a dysfunctional mutant Tumor Protein p53 (TP53) gene. However, the CRISPR/Cas9 system can be used for repairing of a dysfunctional mutant TP53 gene in combination with donor single-stranded oligodeoxynucleotide (ssODN) via cells’ own homology-directed repair (HDR) mechanism. In this study, we aimed to evaluate the CRISPR/Cas9 repairing efficiency on TP53 414delC (p.K139fs*31) null mutation, located in the TP53 gene, of human prostate cancer cell line PC-3 in combination with ssODNs. According to the next-generation sequencing results, TP53 414delC mutation was repaired with an efficiency of 19.95% and 26.0% at the TP53 414delC position with ssODN1 and ssODN2 accompanied by sgRNA2 guided CRISPR/Cas9, respectively. Besides, qPCR and immunofluorescence analysis showed that PC-3 cells, the TP53 414delC mutation of which were repaired, expressed wild type p53 again. Also, significantly increased number of apoptotic cells, driven by the repaired TP53 gene were detected compared to the control cells by flow cytometry analysis. As a result, sgRNA2 guided CRISPR/Cas9 system accompanied by ssODN was shown to effectively repair the TP53 414delC gene region and inhibit the cell proliferation of PC-3 cells. Therefore, the effects of the TP53 414delC mutation repairment in PC-3 cells will be investigated in the in vivo models for tumor clearance analysis in the near future. © 2019, Springer Nature B.V.
Molecular analyses of ADAMTS-1, -4, -5, and IL-17 a cytokine relationship in patients with ulcerative colitis
(BioMed Central Ltd, 2023) Buran T.; Batır M.B.; Çam F.S.; Kasap E.; Çöllü F.; Çelebi H.B.G.; Şahin M.
Background: Ulcerative colitis (UC) is a chronic inflammatory bowel disease that develops due to the impaired immune response in genetically susceptible individuals, and its etiopathogenesis is not fully elucidated. IL-17 A is a cytokine that is produced by a type of immune cell called Th17 cells and is involved in the immune response and inflammation. On the other hand, ADAMTS-1, -4, and − 5 are enzymes that are involved in the breakdown of extracellular matrix proteins, including proteoglycans, which are important components of the intestinal wall. This study aimed to evaluate the relationship between interleukin 17 (IL-17 A) cytokine, which plays a role in the pathogenesis of ulcerative colitis, and the inflammation-controlled a disintegrin and metalloproteinase with thrombospondin motifs (ADAMTS)-1, -4, and − 5 protein members. Methods: Bowel tissue samples and blood serum from 51 patients with UC and 51 healthy controls were included in this study. mRNA expression levels of the ADAMTS-1, -4, -5, and IL-17 A were analyzed by RT-qPCR, and immunohistochemical analyses were performed to evaluate ADAMTS-1, -4, -5, and IL-17 A proteins in tissue samples. In addition, ELISA analysis determined serum levels of the ADAMTS-1, -4, -5, and IL-17 A. Results: RT-qPCR results reveal that the expression of ADAMTS-1, -4, -5, and IL-17 A genes in the UC tissue samples were significantly high according to the control tissue samples. Also, ADAMTS-1, -4, -5, and IL-17 A proteins revealed enhanced expression pattern UC groups according to the control. Also, ADAMTS-1, -4, -5, and IL-17 A protein showed cytoplasmic localization patterns in both control and UC groups. The serum levels of ADAMTS-1,-5, and IL-17 A were significantly higher in UC samples than in the control group. Conclusions: We observed a positive correlation between the ADAMTS-1, -5 and IL17A cytokine expression in UC samples. These results provide a new understanding of controlling crucial ADAMTS family protein members by IL-17 A cytokines with UC. © 2023, BioMed Central Ltd., part of Springer Nature.
Investigation of Genetic Changes in Three Families with Bipolar Disease
(S. Karger AG, 2024) Çolak-Geniş E.; Özdemir Erdoǧan M.; Çam F.S.; Aydemir Ö.; Akin F.; Gerik-Celebi H.B.; Solak M.
Introduction: Bipolar disorder (BD) is a serious psychiatric disorder characterized by mood swings (depressive and manic phases) that can strongly affect the quality of life of patients and their families. The lifetime prevalence of BD in the general population is 1%. The pathogenesis of BD is unknown; however, comprehensive epidemiological studies have shown that both genetic and environmental factors play a role. Within the scope of the current project, we aim to determine the genetic change responsible for the emergence of the disease and to make a genotype-phenotype correlation. Methods: In this study, we evaluated single nucleotide gene variants in three families (n = 6 patients) with bipolar disorder using whole-exome sequencing. Results: Seven genes (TMTC1, DGKH, STARD9, ITIH1, MARCKS, CSMD1, and ADRA2B) were identified as possibly associated with BPD. In addition, two novel variants were presented in the TMTC1 (c.1214T>G) and STARD9 (c.8288C>G) genes. Conclusion: Prospective studies in larger patient groups are required to determine the role of these genes in the etiology of the disease and their potential in diagnosis and treatment. To the best of our knowledge, this is the first methodically comprehensive study conducted in our country and cancontribute to the identification of genes that may be associated with BD and the etiopathogenesis of the disease. © 2024 S. Karger AG, Basel.

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