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通过对含核苷酸结合寡聚化结构域蛋白2基因突变的研究分析确定克罗恩病的神经遗传学框架。

Identifying the Neurogenetic Framework of Crohn's Disease Through Investigative Analysis of the Nucleotide-binding Oligomerization Domain-containing Protein 2 Gene Mutation.

作者信息

Sakibuzzaman Md, Moosa Syed Ahmad, Akhter Mahabuba, Trisha Ipsita Hamid, Talib Khandokar A

机构信息

Internal Medicine, Sir Salimullah Medical College, Dhaka, BGD.

Family Medicine, Woodhaven Medical Professional Corporation, Queens Village, USA.

出版信息

Cureus. 2019 Sep 17;11(9):e5680. doi: 10.7759/cureus.5680.

DOI:10.7759/cureus.5680
PMID:31723489
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6825438/
Abstract

Among several inflammatory bowel diseases, Crohn's disease is associated with inflammation that may take place in any region of the gastrointestinal tract. The inflammatory process is most commonly associated with the ileum, often spreading deep into the bowel tissues, extending into multiple forms, such as strictures and penetrations. Currently, Crohn's disease has no known cure. Various medical and surgical procedures are used to manage the condition. The underlying mechanisms of the disease are yet to be identified, with recent studies suggesting the influence of genetics, environmental factors, and the possible activity of pathogens. Newer studies also offer strong evidence that suggests a relationship between Crohn's disease and the nucleotide-binding oligomerization domain-containing protein 2 (NOD2) gene, also known as inflammatory bowel disease protein 1 (IBD1) or caspase recruitment domain-containing protein 15 (CARD15). NOD2 is responsible for the mechanism in which the immune system identifies foreign microorganisms through the sensing of pathogen-associated molecular patterns in microorganisms. NOD2 can detect intracellular muramyl dipeptide (MDP) in the bacterial wall, thereby causing an inflammatory response. Three major mutations associated with the NOD2 gene are known to have an influence on Crohn's disease (SNP8, SNP12, and SNP13). This article will discuss a number of studies to identify whether there is a relationship between Crohn's disease and the NOD2 gene.

摘要

在几种炎症性肠病中,克罗恩病与可能发生在胃肠道任何区域的炎症相关。炎症过程最常与回肠有关,常常深入肠组织,呈现多种形式,如狭窄和穿孔。目前,克罗恩病尚无已知的治愈方法。采用了各种医疗和外科手术来控制病情。该疾病的潜在机制尚待确定,最近的研究表明其受遗传、环境因素以及病原体可能活动的影响。更新的研究也提供了有力证据,表明克罗恩病与含核苷酸结合寡聚化结构域蛋白2(NOD2)基因有关,该基因也被称为炎症性肠病蛋白1(IBD1)或含半胱天冬酶招募结构域蛋白15(CARD15)。NOD2负责免疫系统通过感知微生物中病原体相关分子模式来识别外来微生物的机制。NOD2能检测细菌壁中的胞内胞壁酰二肽(MDP),从而引发炎症反应。已知与NOD2基因相关的三个主要突变会对克罗恩病产生影响(SNP8、SNP12和SNP13)。本文将讨论多项研究,以确定克罗恩病与NOD2基因之间是否存在关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e87/6825438/e2effde93d68/cureus-0011-00000005680-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e87/6825438/e2effde93d68/cureus-0011-00000005680-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e87/6825438/e2effde93d68/cureus-0011-00000005680-i01.jpg

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