Mustafa Soyöz

The effects of ochratoxin A on lipid peroxidation and antioxidant enzymes: a protective role of melatonin

Various studies indicate that the mycotoxin ochratoxin A (OTA) is a carcinogenic, genotoxic, teratogenic, immunotoxic, and nephrotoxic agent. In the present study, the activities of some enzymes in the serum and liver of rats with ochratoxicosis and the effects of melatonin on these enzymes were investigated. Rats were divided into three equal groups, each consisting of eight rats; control, OTA (289 μg/kg per day) and OTA + melatonin groups for this study. In the OTA treated group, the level of lipid peroxidation (LPO) and the activities of glutathione peroxidase (GSH-Px) were increased in the liver and serum in comparison with the control group. The activities of catalase (CAT) and superoxide dismutase (SOD) were significantly changed in the serum when compared with controls. Our results showed structural tissue damage in the liver in OTA-treated rats. Melatonin decreased the OTA-induced damage to support the antioxidant defense system and/or with free radical scavenger action.

Serotonin Transporter Bi- and Triallelic Genotypes and Their Relationship with Anxiety and Academic Performance: A Preliminary Study

Background: Considerable evidence suggests that variation of the serotonin-transporter-linked promoter region (5- HTTLPR) is associated with anxiety-related traits. Academic outcomes are also more closely related to trait anxiety. This preliminary study aimed to explore the association between academic performance and levels of anxiety with respect to the bi- and triallelic classification of 5-HTTLPR polymorphism of the 5-HTT gene in teacher candidates. Methods: In our study, Spielberger’s State-Trait Anxiety Inventory, the Selection Examination for Professional Posts in Public Organizations (KPSS) and 5-HTTLPR genotypes were used to investigate a group of 94 healthy teacher candidates. Results: Higher anxiety scores were significantly associated with the S′S′ genotype. There was no direct, statistically significant association between academic performance and genotypic groups regarding bi- and triallelic classification. However, the students who have L′L′ or LL genotypes had the lowest levels of trait anxiety and the poorest academic performance. Additionally, there was a significant positive correlation between academic performance and anxiety levels. Discussion: These findings support the idea that S and LG alleles are associated with anxiety-related traits, and that the S′S′ genotype may be a good indicator for anxiety-related traits in a sample from the Turkish population. A specific degree of anxiety is considered to be a motivation for learning and high academic performance. However, 5-HTTLPR polymorphism of the 5-HTT gene may be one of the genetic factors affecting academic performance in connection with anxiety levels. Implications for incorporating anxiety management training in the educational process in terms of both environmental and individual factors will have a very important role in improving effective strategies for student personality services, as well as for development and planning.

Novel GDAP1 Mutation in a Turkish Family with CMT2K (CMT2K with Novel GDAP1 Mutation)

Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause Charcot–Marie–Tooth type 2 (CMT2), a severe autosomal recessive form of neuropathy associated with axonal phenotypes. It has been screened in this study for the presence of mutations in the coding region of GDAP1, which maps to chromosome 8q21, in a family with CMT2. To date, 29 mutations in the GDAP1 have been reported in patients of different ethnic origins. Here, we report a novel missense mutation (c.836A>G), and two polymorphisms: a silent variant (c.102G>C), and a 5′-splice site mutation (IVS5+24C>T) in GDPA1 gene identified in a five generation Turkish family with autosomal recessive CMT2.

Böbrek Nakli Olan Hastalarda Nakil Sonrasında Oluşan Anti-HLA Antikorlarının Saptanması ve Çeşitli Parametrelerle İlişkisinin Değerlendirilmesi

Amac: Bu calismada Izmir Tepecik Egitim ve Arastirma Hastanesi’nde kadavra veya canli donorden bobrek nakli olmus hastalarin nakil sonrasinda periyodik olarak toplanan serum orneklerinde grefte karsi gelisen immunolojik cevabin ve ilgili faktorlerle arasindaki iliskisinin degerlendirilmesi amaclanmistir. Gerec ve Yontem: 31 hasta serumunun anti-HLA antikor tarama ve tanimlama testleri flow sitometrik yontemle yapilmistir. Bu serum ornekleri, hastanemizde nakilden sonra periyodik olarak (1. gun, 1. hafta, 2. hafta, 4. hafta, 12. hafta, 24. hafta ve 52. hafta) toplanmistir. Butun orneklere tarama testi yapilirken, sadece PRA pozitif olan serum orneklerine anti-HLA antikor tipini belirlemek amaciyla tanimlama testi uygulanmistir. Butun prosedurler uretici firmanin talimatlarina gore yapilmistir. Diger parametreler Pearson korelasyon testiyle istatistiksel oalrak degerlendirilmistir. Bulgular: Nakilden sonra 52. haftadan sonra hastalarin sirasiyla %12,9 ile %6,45’i anti-HLA sinif I ve II antikorlari bakimindan pozitif bulunmustur. Hastalarda 1. gun, 1., 2., 4. ve 12. haftalarda mismatch antijenlere karsi antikor olusumu gozlenmemistir. Bir hastada antikorlar 24. haftadan itibaren olusmustur. Yapilan korelasyon analizlerinde hastalarin nakil sonrasi son kreatinin degerleriyle donor yaslari ve GFR degerleriyle hasta yaslari arasinda istatistiksel olarak anlamli sonuclar elde edilmistir (sirasiyla p 0.05). Sonuc: Nakil oncesinde kan transfuzyonu olan bir hastada 12. haftada anti-HLA antikoru olustugu gorulmustur. 5 hastada 24. haftadan sonra antikor olusmustur. Dolayisiyla nakil sonrasi 12. haftadan itibaren rutinde yapilacak anti-HLA antikoru tarama testleri tedavi protokolu icin onemli olabilir.

BÖBREK NAKLİ BEKLEME LİSTESİNDEKİ HASTALARDA ANTİ-HLA ANTİKORLARININ TANIMLANMASI

Amac: Kronik bobrek yetmezliginin kesin tedavisinin bobrek nakli oldugu bilinmektedir. Bu yuzden bobrek nakil bekleme listesindeki hastalarin nakil sansini dusuren veya nakil sonrasi rejeksiyona sebep olabilen anti-HLA antikorlarinin profillerinin cok iyi belirlenmesi gerekmektedir. Anti-HLA antikorlarinin panel reaktif tarama ve tanimlama testlerinin sonuclarina gore uygun donor secilebilmekte, yuksek oranda duyarlilasmis hastalarin bile nakil sansi arttirilabilmektedir. Bu calismanin amaci, panel reaktif sinif I ve sinif II antikor tarama test sonuclari pozitif olan kronik bobrek yetmezligi tanisi konulan hastalarin antikorlarini tanimlayarak profillerini ortaya koymaktadir. Gerec ve Yontemler: Kronik bobrek yetmezligi tanisi ile laboratuvarimiza basvuran ve panel reaktif antikor tarama test sonuclari pozitif cikan 150 hastanin serum ornekleri antikor tiplerinin tanimlanmasi icin kullanildi. 54 hasta yuksek oranda duyarlilasmis olarak degerlendirildi. 96 hastanin antikor profilleri Luminex’e dayali yontemle tanimlandi. Lifecodes CI/II ID Kitleri kullanildi ve calisma proseduru firmanin talimatlarina gore gerceklestirildi. Bulgular: En fazla tespit edilen sinif I anti-HLA antikorlari A2 (%11,6), B7 (%5,2), sinif II anti-HLA antikorlari ise DR4 ve DR7 (%9,9) oldugu belirlendi. Ayrica kadinlarda en cok DR4 (%12,4), erkeklerde ise DR11 (%9,7) tespit edildi. Hem kadin hem de erkek hastalarda en sik tespit edilen sinif I antikoru ise A2 olarak tanimlandi (sirasiyla %11,5 ve %12,9). Sonuc: Elde edilen sonuclar, toplumdaki antijen frekanslariyla ilgili calismalarin sonuclariyla karsilastirildiginda, birbirilerine paralel oldugu belirlendi. Fakat calismamizda yuksek oranda tanimlanan bazi antikorlarin (A33, A68, B7, DR9, DR10, DR8, DR17, DQ9, DR1) toplumda nadir gorulen antijenlere karsi gelistirildigi tespit edildi. Bu HLA antijenlerinin digerlerine gore daha antijenik olabileceginin goz onunde bulundurulmasi gerektigini dusunmekteyiz.

Single antigen flow beads for identification of human leukocyte antigen antibody specificities in hypersensitized patients with chronic renal failure

Aims of this study Aims of this study were to identify class I and class II antibodies in highly sensitized patients by flow cytometry single antigen bead (FC-SAB) assay and to evaluate according to donor HLA type in order to increase their kidney transplantation chance. Material and methods We analyzed 60 hypersensitive patients of 351 individuals, who applied to our laboratory for PRA test in November 2013-December 2014. Flow cytometric PRA screening and single antigen bead commercial kits were used for these analyses. Results In our study group, 19 (31.7%) of these patients were male while 41 (68.3%) patients were female. The most common acceptable antigens were A*02 (10.11%), HLA-A*23 (10.11%), HLA-B*38 (8.79%) and HLA-DRB1*03 (7.83%) in hypersensitive patients. The highest antibody reactivity on SAB was observed against HLA-A*25, HLA-B*45, HLA-DRB1*04 and HLA-DRB1*08 antigens. Conclusions The determination of these acceptable and unacceptable antigens may increase their transplantation chance. Pre-transplant HLA antibody identifications provide prognostic information with respect to the determination of patients who are at increased risk of graft loss.

Osteoartrit Tanısı Konmuş Hasta Bireylerde Smad3 Gen Mutasyonlarının Analizi

ÖZET Amaç: Eklem kıkırdağının harabiyeti ile karakterize bir hastalık olan osteoartrit (OA), insanları etkileyen eklem hastalıklarından en yaygın olanıdır. Transforming growth faktör-beta (TGF-β) sinyal yolunun aracı molekülü olan Smad3, kondrositlerin olgunlaşma sürecinde inhibitör etkiler oluşturur. Çalışmamızda, primer diz osteoartriti ve Smad3 genindeki nükleotid değişimleri arasındaki ilişki araştırıldı. Gereç ve Yöntemler: Primer diz OA’li olgu (n=92) ve kontrol bireylerde (n=87) Smad3 geni, polimeraz zincir reaksiyonu-tek zincir konformasyon polimorfizim (PCR-SSCP) analiziyle mutasyonlar açısından tarandı. SSCP’de farklı bant paterni gözlenen bireylere DNA dizi analizi yapıldı. İntron 2’nin 59. pozisyonunda G→C transversiyonu PCR/RFLP yöntemi ile tarandı. Bulgular: İntron 2’nin 59. pozisyonunda G→C transversiyonu, 103. kodonda sessiz A→G transisyonu ve 170. kodonun ikinci pozisyonunda A→G transisyonu olmak üzere üç farklı tek nükleotid polimorfizimi (SNP) tespit edildi. İntron 2’nin 59. pozisyonundaki G/C allel frekansları değerlendirildiğinde OA hastaları ve kontrol grubu (P= 0,030) ile şiddetli OA hastaları ve kontrol grubu (P= 0,037) arasında istatistiksel olarak anlamlı farklılıklar bulunurken, genotip frekansları açısından farklılık tespit edilmedi. C allel frekansının radyografik olarak şiddetli OA hastalarında farklı olması, C allelinin hastalığın şiddeti ile ilişkili olabileceğini gösterdi. Sonuç: Smad3 geninde ilk defa OA ile ilişkilendirilen bir bölgeyi tespit ettiğimiz ve bu bölgenin frekanslarının hızlı bir şekilde çalışılması için Bme1390I enzim kesim metodu geliştirdiğimiz çalışmamızın, osteoartrit ile ilgili çalışmalara ışık tutacağı düşüncesindeyiz.

Genetic Study of Demyelinating form of Autosomal-Recessive Charcot–Marie–Tooth Diseases in a Turkish Family

Charcot–Marie–Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited peripheral motor and sensory neuropathies characterized by distal muscle weakness atrophy predominantly in the lower extremities, diminished or absent deep tendon reflexes, distal sensory loss and skeletal deformities. Mode of inheritance could be either autosomal dominant, autosomal recessive, or X-linked. The autosomal-recessive subgroup of CMT (AR-CMT) neuropathies is heterogeneous as well. To date, nine demyelinating loci have been implicated in CMT4 and seven genes have been identified. It has been screened in this study for the presence of mutations in the coding region of GDAP1 and genetic linkage analyses of CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, and CMT4F loci were tested in a Turkish family presenting recessively inherited form of CMT disease characterized by severe motor weakness. We did not find any mutations in GDAP1 and genetic linkage excluded for the six demyelinating genes loci (CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, and CMT4F). Our findings indicate that another locus may be associated with AR-CMT disease.