Yazar "Durmaz, Asude" seçeneğine göre listele
Listeleniyor 1 - 20 / 50
Sayfa Başına Sonuç
Sıralama seçenekleri
Öğe ACE I/D and MTHFR C677T Gene Polymorphisms and Matrix Metalloproteinase-9 Gene Expression in Migraine Patients with and without Aura and Correlation with Cranial Magnetic Resonance Imaging Findings: A Case-Control Study(Journal Neurological Sciences, 2015) Gulluoglu, Halil; Gokcay, Figen; Durmaz, Asude; Akin, Haluk; Calli, Cem; Kose, TimurAim: To investigate methylenetetrahydrofolate reductase (MTHFR) C677T and angiotensin converting enzyme (ACE) I/D gene polymorphisms and matrix metalloproteinase 9 (MMP-9) gene expression in migraine patients and correlation with cranial magnetic resonance imaging (MRI) findings. Methods: Migraine patients with (n=50) and without aura (n=50) and age- and gender-matched healthy individuals (n=100) were included. MTHFR C677T and ACE I/D gene polymorphisms and MMP-9 gene expression were explored in the blood samples. Volumes of hyperintense lesions detected on MRI were calculated. Results: No significant difference was determined among the migraine patients with and without aura and controls regarding MTHFR C677T and ACE I/D genotype distribution and MMP-9 gene expression. Comparing all migraine patients with controls, the rate of ACE I/D genotype was higher in the patients, whereas DD genotype was higher in the controls. The number and volume of MRI lesions were significantly higher in the migraine patients with aura as compared to the controls. The number of lesions was higher in ACE DD genotype group than in the ID genotype group. Conclusions: Migraine was a risk factor for silent hyperintense cerebral lesions; however, the role of MTHFR C677T and ACE I/D gene polymorphism and MMP-9 gene expression in migraine pathophysiology remained unresolved.Öğe The association between genetic polymorphisms in matrix metalloproteinases and caries experience(Springer Heidelberg, 2021) Dindaroglu, Funda Cagirir; Eronat, Nesrin; Durmaz, Asude; Cogulu, Dilsah; Durmaz, Burak; Cogulu, OzgurObjectives The variation in the caries susceptibility while environmental factors are similar indicates that the effect of individual factors such as genetics on caries process and tooth development should be revealed. The aim of this study was to evaluate the association between genetic polymorphisms in MMP13 (rs2252070) and MMP20 (rs1784418) with caries experience. Materials and methods A cross-sectional study was conducted on 200 subjects aged 6 to 14 years. Demographic data, data on oral health habits were obtained through the statements of guardian of the individuals, caries data was collected by clinical examination. Unstimulated whole saliva was collected to extract the genomic DNA. Genotyping of the selected polymorphisms was carried out by real-time PCR. Allele and genotype frequencies were compared between different subgroups considering caries experience. Data were analyzed using SPSS 16.0 by chi-square test and logistic regression analysis. Results Allele distribution of MMP13 was different between caries-affected and caries-free subjects. MMP13 A allele increased the caries risk (p=0.005, OR=1.84, 95% CI 1.20-2.82). Allele and genotype distribution of the polymorphism in MMP20 were not associated with caries experience (p>0.05). Conclusions It is concluded that the genetic variation in MMP13 was associated with the caries experience in selected subjects in Turkey.Öğe The Association of Minor Congenital Anomalies and Childhood Cancer(Wiley, 2011) Durmaz, Asude; Durmaz, Burak; Kadioglu, Bengu; Aksoylar, Serap; Karapinar, Deniz; Koturoglu, Guldane; Orman, Mehmet N.; Özkınay, Ferda; Cogulu, OzgurBackground. Although the association of some congenital malformations and specific genetic syndromes is well understood, the association between minor anomalies and cancer is not well known. In recent years some researchers have reported studies establishing this association in different types of cancer. In this study, we aimed to investigate the prevalence and patterns of age-independent minor anomalies in childhood cancer patients. Procedure. Two hundred patients with various types of cancer and 200 healthy controls were examined by two different medical geneticists for minor anomalies who evaluated all the cases and controls simultaneously. Besides minor anomalies, information on the consanguinity between the parents and occurrence of cancer in relatives were also recorded. The types of minor anomalies in different types of cancer, the number of minor anomalies in patients and controls, the association between cancer and the occurrence of different types of minor anomalies were also evaluated. Results. The consanguinity and the history of cancer in relatives were significantly more prevalent in patients (P = 0.04 and P < 0.001, respectively). The number of minor anomalies in patients were significantly higher compared to the controls (P < 0.01). Particularly, the presence of hypertelorism, high-arched palate (approximately 40-fold higher, 95% CI: 12.895-125.037) and hand-foot anomalies were found to be more prevalent in patients having cancer compared to the controls. Conclusion. The common pathways during the embryogenesis may play a role in the development of cancer. The presence and the combination of minor anomalies seem to be associated with a higher prevalence of cancer. Pediatr Blood Cancer 2011;56:1098-1102. (C) 2011 Wiley-Liss, Inc.Öğe Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing(Lippincott Williams & Wilkins, 2021) Cogulu, Ozgur; Mojarrab, Neda; Simsir, Ozguc S.; Durmaz, Asude; Aykut, Ayca; Cogulu, DilsahGingival fibromatosis with distinctive facies presents a rare clinical picture. It is characterized by gingival fibromatosis in conjunction with some craniofacial dysmorphic features such as relative macrocephaly, bushy eyebrows, synophrys, hypertelorism, downslanting palpebral fissures, flattened nasal bridge, hypoplastic nares, cupid-bow mouth and a high palate. Autosomal recessive inheritance has been suggested. However, to date, no causative gene has been reported. Herein, we report a case presenting with the typical findings of this rare genetic syndrome. A homozygous c.1855C>T (p.Gln619Ter) mutation in the PTPN14 gene was identified.Öğe The association of RANK gene C421T and C575T polymorphisms with bone mineral density in postmenopausal Turkish women(Springer Heidelberg, 2013) Isleten, Banu; Durmaz, Burak; Durmaz, Berrin; Onay, Huseyin; Özkınay, Ferda; Durmaz, Asude; Turan, Volkan; Oztekin, KemalTo investigate the association between C421T polymorphism within exon 4, C575T polymorphism within exon 6 of the RANK gene and bone mineral density (BMD) variations in postmenopausal Turkish women. One hundred seventy-eight postmenopausal women (patients = 100 and controls = 78) who applied to Ege University Faculty of Medicine, Department of Physical Medicine and Rehabilitation, for osteoporosis examination were analyzed. BMDs of the lumbar spine and femoral sites were measured. Patient and control groups were established based on their T-score values being above and/or below -1. After venous blood sampling, C421T and C575T polymorphisms of the RANK gene were assessed through PCR process following DNA extraction. Genotype frequencies for the C421T and C575T polymorphisms were compared between the control group and the patient group. No significant difference was detected between the two groups for both polymorphisms. There was also no significant difference between the control and patient groups in terms of the combined genotype (p = 0.752) and the combined haplotype analysis of the C421T and C575T polymorphisms (p = 0.723). In the control and patient groups separately, no significant differences in BMD values either at the femoral sites or at the lumbar spine were detected between the combined genotypes of the two polymorphisms. The genotypes, combined genotypes and allele frequencies of C421T and C575T polymorphisms of the RANK gene have not been found to be associated with BMD in Turkish women. Further studies including both sexes and more cases are required.Öğe A case of gender developmental disorder with difficulty in molecular diagnosis: new variant in NR5A1 gene(Karger, 2021) Arslan, Emrullah; Solmaz, Asli Ece; Aykut, Ayca; Durmaz, Asude; Atik, Tahir; Goksen, Damla; Ulman, Ibrahim[No Abstract Available]Öğe Cerebral folate transporter deficiency: a potentially treatable neurometabolic disorder(Springer Heidelberg, 2021) Kanmaz, Seda; Simsek, Erdem; Yilmaz, Sanem; Durmaz, Asude; Serin, Hepsen Mine; Gokben, SarenurCerebral folate deficiency (CFD) syndrome is a rare treatable neurometabolic disorder with low levels of the active form of folaten in cerebrospinal fluid (CSF) arising from different causes such as FOLR1 gene mutations or autoantibodies against the folate receptor-alpha (FR) protein that can block folate transport across the choroid plexus. It is characterized by late infantile onset refractory seizures, ataxia, movement disorder, and unexplained global developmental delay. Here, we report a patient diagnosed with autistic spectrum disorder, followed by refractory myoclonic-atonic seizures, ataxia, and loss of motor skills over time. A homozygous missense (c.665A > G) mutation in FOLR1 gene and extremely low CSF 5-methyltetrahydrofolate level led to the diagnosis of CFD. Although she was initiated on combined oral and intravenous high doses of folinic acid treatment at 6 years of age, mild improvement was achieved in terms of epileptic seizures and motor skills. It is important that CFD should be kept in mind in cases with refractory myoclonic-atonic seizure and folinic acid treatment should be started as soon as possible.Öğe Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriages(Wiley, 2019) Kutukculer, Necil; Aykut, Ayca; Karaca, Neslihan E.; Durmaz, Asude; Aksu, Guzide; Genel, Ferah; Pariltay, Erhan; Cogulu, Ozgur; Azarsiz, ElifChronic granulomatous disease (CGD) is a primary immunodeficiency characterized by susceptibility to bacterial and fungal infections resulting from the inadequacy of phagocytic leucocytes to produce reactive oxygen radicals. CGD is a genetically heterogeneous disease with an X-linked recessive (XR-CGD) form caused by mutations in the CYBB (OMIM #300481) gene encoding the gp91(phox) protein, and an autosomal recessive (AR-CGD) form caused by mutations in the CYBA (OMIM #608508), NCF1 (OMIM #608512), NCF2 (OMIM #608515) and NCF4 (OMIM #601488) genes encoding p22(phox), p47(phox), p67(phox) and p40(phox), respectively. The genetic mutation of one of the cytosolic p47phox/p67phox proteins and membrane-bound gp91phox/p22phox proteins, which constitutes the NADPH oxidase enzyme complex, causes the disease. In this study, we evaluated the clinical, laboratory and genetic findings and the prognostic effects of molecular inheritance of our 24 CGD cases (14 XR, 10 autosomal recessive-AR). Consanguinity (three XR and all AR cases) showed statistically significant relationship with the type of hereditary inheritance (P < 0.001). 83% patients had an infection since early infancy. The mean age of initiation of symptoms was earlier in XR cases, and 78% patients had respiratory tract infections. Bone marrow transplantation was performed in five XR cases (two ex) and four AR (one ex) cases. Three of nine XR and two of six AR cases deceased on medical follow-up. In countries especially with high consanguinity rates, the early diagnosis for appropriate prophylactic treatment of CGD is quietly important to avoid from recurrent severe infections, early death and fatal complications of late transplantation.Öğe Co-occurrences of polymorphic heterochromatin regions of chromosomes and effect on reproductive failure(Inst Animal Reproduction Food Research, 2020) Karaca, Yasemin; Pariltay, Erhan; Mardan, Lamiya; Karaca, Emin; Durmaz, Asude; Durmaz, Burak; Cogulu, OzgurAlthough the polymorphic heterochromatin regions of chromosomes (heteromorphisms) have been extensively studied for their phenotypic effects on humans, co-occurrences of chromosome 1, 9, 16 and Y heteromorphisms and of acrocentric variants have never been studied on humans with an objective scoring system. Here we compared the frequencies of individual heteromorphisms on a total of 602, 768 and 224 patients with the indications of infertility, recurrent miscarriage and in vitro fertilization (IVF) failure, respectively and on 272 controls. Then we examined whether there were significant co-occurrences between heteromorphisms within and between the groups. There were no statistically significant differences in the frequencies of heteromorphisms between the groups. Both statistically significant and non-significant correlations were observed within the non-acrocentric and certain acrocentric heteromorphisms in each group. When these co-occurrences were examined between the groups, a 2.2 fold increased risk of IVF failure in males in the presence of either chromosome 13 or chromosome 21 variants was observed (95 %CI:1.1-4.2). We conclude that the simultaneous manifestations of heteromorphisms have no effect on reproductive failure. There seems to be a correlation between the non-acrocentric heteromorphisms (1qh + , 9qh + , 16qh + and Yqh + /-), which might be the result of complex interactions of formation of these heterochromatin regions. the correlations observed between certain acrocentric chromosomes might be related to satellite association and nucleolus formation. the increased risk observed in males with IVF failure in the presence of either chromosome 13 or 21 variants should be interpreted cautiously due to the heterogeneity of the group.Öğe CYP4F22 gene mutations in patients with autosomal recessive congenital ichthyosis: Identification of two novel mutations(Wolters Kluwer Medknow Publications, 2020) Ates, Esra Arslan; Onay, Huseyin; Ertam, Ilgen; Ataman, Esra; Hazan, Filiz; Durmaz, Asude; Ozkinay, FerdaBackground: Autosomal recessive congenital ichthyosis (ARCI) is a genetically heterogeneous keratinization disorder, which is clinically classified into five main forms: Lamellar ichthyosis, congenital ichthyosiform erythroderma, harlequin ichthyosis, self-healing collodion baby, and bathing suit ichthyosis. Mutations in TGM1, ABCA12, ALOX12B, ALOXE3, NIPAL4, CYP4F22, PNPLA1, LIPN, and CERS3 genes have been described in patients with ARCI. However, in 20% of the ARCI patients, the genetic defect remains unknown. Materials and Methods: in this study, we investigated the mutations in the CYP4F22 gene in ARCI patients who do not have mutations in two common ARCI genes, NIPAL4 and TGM1. Twenty-two patients diagnosed with ARCI and having no mutations in TGM1 and NIPAL4 genes were included in the study. Their CYP4F22 genes were sequenced using the Sanger sequencing method. Results: in 5 of 22 (22.7%) ARCI patients, four different mutations, of which two were previously reported, were found. The two novel mutations were c.976C> T and c.1189C> T. The c.727C> T and c.1303C>T mutations were previously reported. Conclusions: This study expands the CYP4F22 mutation spectrum and to provide more accurate genetic counseling for patients at risk.Öğe Diagnostic yield of next generation sequencingbased copy number variation analysis in Mendelian Disorders(Springernature, 2024) Avci Durmusalioglu, Enise; Isik, Esra; Kose, Melis; Kanmaz, Seda; Aykut, Ayca; Durmaz, Asude; Cogulu, Ozgur[Abstarct Not Available]Öğe Dirençli Epilepsinin Tedavi Edilebilir Bir Nedeni: PiridoksinBağımlı Epilepsi(2020) Durmaz, Asude; Şimşek, Erdem; Kanmaz, Seda; Yılmaz, Sanem; Aktan, Gül; Tekgül, Hasan; Gökben, SarenurAmaç: Piridoksin bağımlı epilepsi, tipik olarak bebeklik veya erken çocukluk döneminde inatçı nöbetler ile seyreden nadir görülen otozomal resesif bir hastalıktır. Nöbetler geleneksel antiepileptik tedavilere dirençli olup, farmakolojik dozda piridoksine yanıt verir. Bu çalışmada Piridoksin Bağımlı Epilepsi (PBE) tanısı ile izlediğimiz altı hastanın klinik ve genetik özelliklerini sunmayı amaçladık.Gereç ve Yöntemler: Çocuk Nöroloji Bilim Dalı’nda piridoksin bağımlı epilepsi tanısı ile izlenen altı olgunun klinik ve genetik özellikleri ile prognozu retrospektif olarak değerlendirildi.Bulgular: Çalışmaya alınan hastaların 5’i erkek, 1’i kız olup, yaş ortalaması 6.83±3.71 yıldı. Nöbet başlangıç yaşı ortalama 22.33±31.77 (3-90 gün) olup, bir hasta (n:4) hariç diğerleri yenidoğan döneminde başlamıştı. Üç hastada fokal motor nöbet, 2 hastada jeneralize motor nöbet ve 1 hastada epileptik spazm izlendi. Hastaların vitamin B6 tedavisi bir hasta hariç erken dönemde başlandı. Erken dönem tedavi başlanan bir hasta dışında diğer hastalarda mental retardasyon, stereotipik hareketler ve otistik bulgular izlendi. Yapılan moleküler genetik analizde 5 farklı mutasyon saptanmıştır [2 olguda homozigot c.1597delG (p.Ala533ProfsTer18), 1 olguda homozigot c.781 A>G (p.Met261Val),1 olguda birleşik heterozigot c.328C>T (p.Arg110Ter)/c.1566-1G>T, 1 olguda heterozigot c.328C>T (p.Arg110Ter) ve 1 olguda heterozigot c.1356 A>C (p.Lys452Asn)].Sonuç: Piridoksin Bağımlı Epilepsi tedavi edilebilir epilepsi nedenlerinden biri olup açıklanamayan dirençli nöbetleri olan bebeklerde mutlaka düşünülmeli ve terapotik dozda piridoksin tedavisine başlanmalıdır.Öğe Early-Onset Isolated Bilateral Pheochromocytoma As a Major Clinical Manifestation of von-Hippel Lindau Syndrome Type 2C(Galenos Yayincilik, 2018) Acar, Sezer; Tuhan, Hale; Demir, Korcan; Aykut, Ayca; Durmaz, Asude; Karaarslan, Unal Utku; Inci, Gozde; Ates, Oguz; Bober, Ece; Abaci, AyhanPheochromocytoma is a rare disease that is characterized by the increased production and secretion of catecholamines from the adrenal medulla. The disease is autosomal dominant, and frequently sporadic and unilateral. Pheochromocytoma, which is diagnosed during childhood, mostly arises as a part of cancer susceptibility syndromes. Among these syndromes, von-Hippel Lindau (VHL) syndrome is dominantly inherited, and is frequently identified in childhood pheochromocytoma. VHL syndrome is clinically characterized with hemangioblastomas of the central nervous system and retina, renal cell carcinoma, and pheochromocytoma, and has been demonstrated to have a strong genotype-phenotype correlation. In this case report, we presented an 11-year-old male who was found to have early-onset isolated bilateral pheochromocytoma and V84L mutation in VHL. We aimed to emphasize that this rarely reported mutation is associated with VHL Type 2C that classically manifests with early-onset isolated bilateral pheochromocytoma.Öğe Early-Onset Isolated Bilateral Pheochromocytoma As a Major Clinical Manifestation of von-Hippel Lindau Syndrome Type 2C(2018) Acar, Sezer; Tuhan, Hale Ünver; Demir, Korcan; Aykut, Ayça; Durmaz, Asude; Karaarslan, Ünal Utku; Böber, Oğuz Ateş EcePheochromocytoma is a rare disease that is characterized by the increased production and secretion of catecholamines from the adrenal medulla. the disease is autosomal dominant, and frequently sporadic and unilateral. Pheochromocytoma, which is diagnosed during childhood, mostly arises as a part of cancer susceptibility syndromes. Among these syndromes, von-Hippel Lindau (VHL) syndrome is dominantly inherited, and is frequently identified in childhood pheochromocytoma. VHL syndrome is clinically characterized with hemangioblastomas of the central nervous system and retina, renal cell carcinoma, and pheochromocytoma, and has been demonstrated to have a strong genotype-phenotype correlation. in this case report, we presented an 11-year-old male who was found to have early-onset isolated bilateral pheochromocytoma and V84L mutation in VHL. We aimed to emphasize that this rarely reported mutation is associated with VHL Type 2C that classically manifests with early-onset isolated bilateral pheochromocytoma.Öğe Early-Onset Isolated Bilateral Pheochromocytoma As a Major Clinical Manifestation of von-Hippel Lindau Syndrome Type 2C(2018) Acar, Sezer; Tuhan, Hale Ünver; Demir, Korcan; Aykut, Ayça; Durmaz, Asude; Karaarslan, Ünal Utku; Abacı, AyhanPheochromocytoma is a rare disease that is characterized by the increased production and secretion of catecholamines from the adrenal medulla. The disease is autosomal dominant, and frequently sporadic and unilateral. Pheochromocytoma, which is diagnosed during childhood, mostly arises as a part of cancer susceptibility syndromes. Among these syndromes, von-Hippel Lindau (VHL) syndrome is dominantly inherited, and is frequently identified in childhood pheochromocytoma. VHL syndrome is clinically characterized with hemangioblastomas of the central nervous system and retina, renal cell carcinoma, and pheochromocytoma, and has been demonstrated to have a strong genotype-phenotype correlation. In this case report, we presented an 11-year-old male who was found to have early-onset isolated bilateral pheochromocytoma and V84L mutation in VHL. We aimed to emphasize that this rarely reported mutation is associated with VHL Type 2C that classically manifests with early-onset isolated bilateral pheochromocytoma.Öğe Evaluation of Clinical and Genetic Characteristics of Non-Syndromic Monogenic Obese Patients(Karger, 2023) Özalp Kızılay, Deniz; Durmaz, Asude; Arslan, Emrullah; Jalilova, Arzu; Balki, Hanife Gul; Aykut, Ayça; Gökşen, Damla[No abstract available]Öğe Evaluation of the miRNA profiling and effectiveness of the propolis on B-cell acute lymphoblastic leukemia cell line(Elsevier France-Editions Scientifiques Medicales Elsevier, 2016) Yilmaz, Ugur Cem; Bagca, Bakiye Goker; Karaca, Emin; Durmaz, Asude; Durmaz, Burak; Aykut, Ayca; Kayalar, Husniye; Ayci, Cigir Biray; Susluer, Sunde Yilmaz; Gunduz, Cumhur; Cogulu, OzgurAcute lymphoblastic leukemia (ALL) is one of the most frequent causes of death from cancer. Since the discovery of chemotherapeutic agents, ALL has become a model for improvement of survival. In parallel to this, serious side effects were observed and new natural therapeutic options has been discussed. One of these substances is called propolis which is a resinous substance gathered by honeybees. In the molecular era, miRNAs have been shown to play crucial roles in the development of many clinical conditions. The aim of this study is to evaluate the effect of Aydin propolis on 81 human miRNA activity in CCRF-SB leukemia cell line. Apoptotic effects of propolis on cell lines were also evaluated and apoptosis were found to be induced 1.5 fold in B-cell leukemia cells. The expression of 63 miRNAs (46 miRNAs were downregulated, 19 miRNAs were upregulated) in propolis treated leukemia cells have changed significantly (p < 0.05). In conclusion propolis has changed expression of miRNAs which have epigenetic effects on leukemic cells. It is thought that it can be a promising agent for ALL treatment for future studies. (C) 2016 Elsevier Masson SAS. All rights reserved.Öğe An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission(Hindawi Ltd, 2023) Aytac, Gulcin; Guven, Burcu; Aydin, Ilyas; Topyildiz, Ezgi; Aykut, Ayca; Durmaz, Asude; Karaca, Neslihan EdeerBackground. APECED is a syndrome characterized by autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy. The most observed clinical findings are chronic mucocutaneous candidiasis, hypoparathyroidism, and autoimmune adrenal insufficiency. Case Presentation. A three-year-old male patient was admitted with classical signs of juvenile idiopathic arthritis and treated with nonsteroidal anti-inflammatory drugs. During follow-up, signs of autoimmunity, candidiasis, nail dystrophy, and onychomycosis were observed. The parents were consanguineous, and targeted next-generation sequencing was performed. A homozygous mutation in the AIRE gene SAND domain (c.769C > T, p.Arg257Ter) was detected, and the patient was diagnosed with APECED syndrome. Conclusion. Inflammatory arthritis is rarely described in association with APECED and is often misdiagnosed as juvenile idiopathic arthritis. In APECED cases, nonclassical symptoms such as arthritis may occur before developing classical symptoms and considering the diagnosis of APECED in patients with CMC and arthritis is useful for early diagnosis before development of complications and management of disease.Öğe Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA-2; PLCG2): Striking clinical phenotypic overlap and difference(Wiley, 2021) Kutukculer, Necil; Topyildiz, Ezgi; Berdeli, Afig; Guven Bilgin, Burcu; Aykut, Ayca; Durmaz, Asude; Edeer Karaca, NeslihanWe suggest PLAID, APLAID, and FCAS3 have to be considered as different aspects of the same underlying condition, because of our long-term clinical and genetical experiences. Some CVID patients have the same disease-causing mutations in PLCG2 gene, so it may be better to define all of them as "PLCG2deficiency."Öğe Genetic factors associated with the predisposition to late onset Alzheimer's disease(Elsevier, 2019) Durmaz, Asude; Kumral, Emre; Durmaz, Burak; Onay, Huseyin; Aslan, Gulcin Itirli; Özkınay, Ferda; Pehlivan, Sacide; Orman, Mehmet; Cogulu, OzgurBackground Alzheimer's disease is a progressive, irreversible neurodegenerative disorder characterized by loss of memory and cognitive skills. More than 90% of cases are sporadic and have later age of onset. Many studies have shown a genetic predisposition for late onset Alzheimer's disease (LOAD). The most studied genetic predisposition factor is apolipoprotein E gene besides other susceptibility genes involved in vascular pathologies, homocysteine metabolism, and neuronal growth and differentiation such as methylenetetrahydrofolate reductase (MTHFR), angiotensin-converting enzyme (ACE), APOB and brain derived neurotrophic factor (BDNF). Methods: In this study Factor V Leiden (G1691A) and H1299R, prothrombin G20210A, Factor XIII V34L, B-fibrinogen -455G > A, PAI-1 5G/4G, HPA1 b/a, MTHFR C677T, MTHFR A1298C, APOE, ACE I/D, BDNF C270T and G196A polymorphisms were evaluated in 100 LOAD patients and 100 age matched healthy controls. Results: APOE4 allele, MTHFR CCA1298C and BDNF TTC270T genotypes were significantly higher in LOAD patients compared to the control group (p < 0.001, p = 0.04, p = 0.03, respectively). There were no significant associations between other genotypes and allele frequencies. Mini-Mental State Examination (MMSE) scores and age at onset of the patients were also evaluated for each and combined genotypes. Age at onset was significantly lowered by about approximately 4 and 5 years in patients carrying BDNF TTC270T and MTHFR TTC677T genotypes, respectively. Conclusion: APOE, MTHFR A1298C and BDNF C270T polymorphisms may be associated with LOAD and BDNF and MTHFR alleles may play a role in the age at onset of the LOAD.
- «
- 1 (current)
- 2
- 3
- »