İndirekt inguinal herni patofizyolojisinde rol aynaması muhtemel genlerin keselerdeki ekspresyon düzeyleri ve DNA varyasyon analizi
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Date
2020
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Trakya Üniversitesi, Tıp Fakültesi
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info:eu-repo/semantics/openAccess
Abstract
İndirekt İnguinal Herni (İİH), fetal dönemde testisin skrotuma inişi esnasında oluşan processus vaginalisin testisin inişinin tamamlanmasından sonra oblitere olmaması sebebiyle açık kalan PV’ye batın içi organların dolması sonucu oluşur ve tedavi edilmediği durumlarda doku, organ kaybı ve hayati tehlike oluşturma ihtimali vardır. İİH multifaktöryel bir hastalıktır ve PV obliterasyonunda farklı genetik yolaklar rol almaktadır. Trakya Üniversitesi Çocuk Cerrahisi kliniğinde İİH etyolojisini araştırmak amacıyla ameliyat olan 20 erkek İİH ve 20 sünnet hastasından elde edilen doku örneklerinde GATA6 ve TBX3 gen ekspresyonları, ve SNP analizleri yapıldı. Genetik değerlendirmede, İİH grubunda GATA6 ekspresyonu artmış (p<0.001), TBX3 ekspresyonu azalmış (p<0.001) olarak bulundu. Ancak genotiplendirme analizinde herhangi bir polimorfizme rastlanmadı. Apoptozun, İİH grubundaki artmış GATA6 ekspresyon düzeylerine rağmen gerçekleşmemiş olması PPV’lerde GATA6-Bax etkileşiminin immünohistokimyasal olarak araştırılması gerektiği sonuncunu doğurmakta, azalmış TBX3 ekspresyon düzeylerinin TGF-?1 ve WNT yolakları üzerinden apoptozu düzenlemesi sebebiyle GATA6 ile birlikte etkileşiminin ileri düzeyde araştırılması gerektiği kanısına varılmıştır. Çalışmanın sonuçlarına göre, apoptotik yolakta GATA6 ve TBX3 aracılı basamaklarda mevcut bir patolojinin İİH gelişimine neden olabileceği söylenebilir. Bununla birlikte daha fazla sayıda hasta ile ya da hayvan çalışması ve doku kültürü gibi yöntemler aracılığıyla, apoptotik yolakta rol alan diğer genlerin de çalışıldığı daha geniş kapsamlı çalışmalara ihtiyaç olduğu ve bu çalışmaların İİH etiyolojisini aydınlatmada faydalı olacağı düşüncesindeyiz.
Indirect Inguinal Hernia (IIH) occurs as a result of the filling of the abdominal organs into the open PV due to the fact that the processus vaginalis formed during the descent of the testicle to the scrotum during the fetal period is not obliterated. If left untreated, tissue or organ loss can occur and can be life-threatening. IIH is a multifactorial disease and different genetic pathways play a role in PV obliteration. To investigate the etiology of IIH, GATA6 and TBX3 gene expressions and SNP analyzes were performed in tissue samples obtained from 20 male IIH and 20 circumcised patients who were operated in Trakya University Pediatric Surgery Clinic. Expression of GATA6 increased (p<0.001) and TBX3 expression decreased (p<0.001) in IIH group. However, no polymorphism was found in the genotyping analysis. The absence of apoptosis despite the increased GATA6 expression levels in the IIH group suggests that the GATA6-Bax interaction in PPVs should be investigated immunohistochemically. It is concluded that the interaction with GATA6 should be investigated further, since decreased TBX3 expression levels regulate apoptosis through TGF-?1 and WNT pathways. According to the results of the study, it can be said that a pathology present in the GATA6 and TBX3-mediated steps in the apoptotic pathway may cause the development of IIH. However, we believe that more comprehensive studies are needed to study more genes involved in the apoptotic pathway with more patients or through methods such as animal studies and tissue culture, and these studies will be useful in elucidating the etiology of IIH.
Indirect Inguinal Hernia (IIH) occurs as a result of the filling of the abdominal organs into the open PV due to the fact that the processus vaginalis formed during the descent of the testicle to the scrotum during the fetal period is not obliterated. If left untreated, tissue or organ loss can occur and can be life-threatening. IIH is a multifactorial disease and different genetic pathways play a role in PV obliteration. To investigate the etiology of IIH, GATA6 and TBX3 gene expressions and SNP analyzes were performed in tissue samples obtained from 20 male IIH and 20 circumcised patients who were operated in Trakya University Pediatric Surgery Clinic. Expression of GATA6 increased (p<0.001) and TBX3 expression decreased (p<0.001) in IIH group. However, no polymorphism was found in the genotyping analysis. The absence of apoptosis despite the increased GATA6 expression levels in the IIH group suggests that the GATA6-Bax interaction in PPVs should be investigated immunohistochemically. It is concluded that the interaction with GATA6 should be investigated further, since decreased TBX3 expression levels regulate apoptosis through TGF-?1 and WNT pathways. According to the results of the study, it can be said that a pathology present in the GATA6 and TBX3-mediated steps in the apoptotic pathway may cause the development of IIH. However, we believe that more comprehensive studies are needed to study more genes involved in the apoptotic pathway with more patients or through methods such as animal studies and tissue culture, and these studies will be useful in elucidating the etiology of IIH.
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Keywords
İndirekt İnguinal Herni, GATA6, TBX3, Gen Ekspresyonu, Single Nucleotide Polymorphism, Indirect Inguinal Hernia, Gene Expression, Single Nucleotide Polymorphism
