İnflamatuvar barsak hastalıkları ve genetik

Yıl 2020, Cilt: 2 Sayı: 3, 80 - 86, 28.06.2020

Güray Can Hüseyin Ahmet Tezel

https://doi.org/10.38053/acmj.689278

Öz

İnflamatuvar barsak hastalıkları gastrointestinal sistemi tutan kronik inflamatuvar bir hastalık grubudur. İnflamatuvar barsak hastalıklarının etiyolojisi hala aydınlatılamamışken, çevresel ve genetik faktörlerin kompleks etkileşimi sonucu, intestinal sistemde lüminal içeriğe karşı abartılı bir immün yanıtın oluştuğu düşünülmektedir. Bu reaksiyon, genetik olarak yatkın olanlarda lüminal antijenlere karşı immün-toleransın kaybolması sonucu meydana geliyor olabilir. Günümüzde, İnflamatuvar barsak hastalıkları için yatkınlık oluşturan, intestinal immün yanıtı etkileyebilecek çok sayıda gen tanımlanmıştır. Bunlar intestinal immün sistemin farklı basamaklarında etkili mekanizmalarla ilişkili olarak ortaya çıkmaktadır. İntestinal immün sistemin, lüminal mikrobiyota, intestinal epitelyal bariyer, antijen tanımlama, otofaji ve inflamazom, endoplazmik retikulum stresi, antijen sunumu ve kazanılmış bağışıklık sistemi ile JAK-STAT yolağını da içine alan birçok katmanında genetik olarak ortaya çıkabilecek değişiklikler sistemin işleyişinin etkilenmesine neden olacak, hastalığın gün yüzüne çıkmasına neden olacaktır. Ama maalesef son gelişmelerle birlikte hastalığın ortaya çıkmasında rol oynayan genetik değişikliklerin bunlarla sınırlı olmadığı, nonfonksiyone genler, epigenetik değişiklikler, metabolomikler ve bunun gibi birçok durumun da inflamatuvar barsak hastalıklarıyla ilişkisi gösterilmiştir. Bütün bu gelişmelere rağmen hala daha hastalığın patogenezi net birşekilde ortaya konulamamış olması, hastalığı multifaktöryel doğasından kaynaklanmaktadır.

Anahtar Kelimeler

İnflamatuvar barsak hastalıkları, genetik, JAK-STAT yolağı

Inflammatory bowel diseases and genetic

Öz

Inflammatory bowel diseases are a group of chronic inflammatory diseases that involve the gastrointestinal tract. While the etiology of inflammatory bowel
diseases is still not elucidated, an exaggerated immune response to luminal content is thought to occur in the intestinal tract as a result of the complex
interaction of environmental and genetic factors. This reaction may occur as a result of loss of immune-tolerance to luminal antigens in those who are
genetically susceptible. Today, a large number of genes have been identified that are susceptible to inflammatory bowel diseases that may affect the intestinal
immune response. These occur in relation to effective mechanisms at different stages of the intestinal immune system. Genetic changes that may occur in
many layers of the intestinal immune system, including luminal microbiota, intestinal epithelial barrier, antigen identification, autophagy and infamazom,
endoplasmic reticulum stress, antigen presentation and acquired immune system, and JAK-STAT pathway, will affect the functioning of the system. will cause
it to come to light. Unfortunately, with the latest developments, genetic changes that play a role in the emergence of the disease have not been limited to these;
nonfunctional genes, epigenetic changes, metabolomics and many other conditions have been shown to be associated with inflammatory bowel diseases.
Despite all these developments, the fact that the pathogenesis of the disease has not been clearly revealed is due to its multifactorial nature.

Anahtar Kelimeler

Inflammatory bowel diseases, genetics, JAK-STAT pathway

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