PARKİNSON HASTALIĞI İLE TIRAP GEN POLİMORFİZMİ ARASINDAKİ İLİŞKİNİN ARAŞTIRILMASI

Abstract

Amaç Parkinson hastalığı (PH), beyinde dopamin üreten hücrelerin kaybıyla ilerleyen bir hastalıktır. PH’li hastaların beyin dokularında α-sinüklein adlı bir protein birikir ve nöroinflamasyona neden olur. Nöroinflamasyon, beyindeki bağışıklık sistemi hücrelerinin aktivasyonu ve iltihaplanma ile ilgili moleküllerin salınımını içerir. Bu süreçte rol oynayan Toll Like Reseptör (TLR)’ler patojenleri ve hasarlı hücreleri tanıyarak bağışıklık yanıtını başlatır. Bu çalışmada, TLR sinyal yolağında yer alan bir adaptör protein olan Toll/IL-1 reseptör ilişkili protein (TIRAP) gen bölgesi üzerindeki polimorfik allelin PH’li hastalarda ve kontrol grubunda karşılaştırmalı olarak ilişkisini araştırmayı amaçladık. Gereç ve Yöntem Çalışmaya 39 PH hastası ve 40 sağlıklı kişi katıldı. Katılımcılardan kan örnekleri alınarak DNA izolasyonu yapıldı. TIRAP rs8177374 (975C/T) polimorfizmi PCR ve RFLP yöntemleri ile belirlendi. Bulgular T allel frekansı PH hastalarında 0,218; kontrol grubunda ise 0,200 olarak bulundu. C allel frekansı ve CC genotip frekansı her iki grupta da yüksek bulundu. F değeri PH hastalarında 0,128; kontrol grubunda ise 0,250 olarak bulundu. OR değeri 1,115; CI değeri ise [0,517-2,402] olarak bulundu. Total OR=1,508; P=0,758 olarak bulundu. Sonuç TIRAP polimorfizmi ile PH arasında istatistiksel olarak anlamlı bir ilişki bulunmadı. TIRAP polimorfizminin PH hastalarında risk faktörü olmadığı sonucuna varıldı.

Keywords

• Parkinson Hastalığı
• Toll Like Reseptör
• Nöroinflamasyon
• TIRAP

INVESTIGATION OF THE RELATIONSHIP BETWEEN PARKINSON'S DISEASE AND TIRAP GENE POLYMORPHISM

Abstract

Objective Parkinson's disease (PD) is a progressive disease characterized by the loss of dopamine-producing cells in the brain. A protein called α-synuclein accumulates in the brain tissue of patients with PD and causes neuroinflammation. Neuroinflammation involves the activation of immune system cells in the brain and the release of inflammation-related molecules. The Toll Like Receptors (TLRs) involved in this process recognize pathogens and damaged cells and initiate the immune response. In this study, we aimed to investigate the association of the polymorphic allele on the Toll/IL-1 receptor-associated protein (TIRAP) gene region, an adaptor protein involved in the TLR signaling pathway, in patients with PD and in the control group. Material and Method 39 PD patients and 40 healthy individuals participated in the study. Blood samples were taken from the participants and DNA isolation was performed. TIRAP rs8177374 (975C/T) polymorphism was determined by PCR and RFLP methods. Results T allele frequency was found to be 0.218 in PD patients and 0.200 in the control group. C allele frequency and CC genotype frequency were found to be high in both groups. F value was found to be 0,128 in PD patients and 0,250 in the control group. OR value was 1.115; CI value was [0,517-2,402]. Total OR=1,508; P=0,758. Conclusion No statistically significant association was found between TIRAP polymorphism and PD. It was concluded that TIRAP polymorphism is not a risk factor in PD patients.

Keywords

• Toll Like Receptor
• Neuroinflammation
• TIRAP
• Parkinson

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