scholarly journals Subclinical Markers of Human Inflammatory Bowel Disease

1995 ◽  
Vol 9 (3) ◽  
pp. 161-167 ◽  
Author(s):  
Huiying Yang ◽  
Jerome I Rotter
Keyword(s):  
Inflammatory Bowel Disease ◽  
Genetic Marker ◽  
Intestinal Permeability ◽  
Bowel Disease ◽  
Genetic Studies ◽  
Genetic Determination ◽  
Inflammatory Bowel ◽  
Marker Studies ◽  
Genetically Determined ◽  
Subclinical Marker

Genetic studies can be greatly aided by the use of subclinical markers that are closer to the basic defect and thus likely to detect more individuals with the abnormal genotype. At least two approaches are generally used to characterize subclinical markers. One is the family study approach. The detection of subclinical abnormalities in unaffected relatives similar to those found in the probands can distinguish between an inherited predisposition and a secondary abnormality due to the disease process. The second approach is the combination of subclinical marker with genetic marker studies. Specific association of a subclinical marker with a genetic marker indicates genetic determination of the subclinical marker. The identification of a genetically determined subclinical marker can help to define a more homogeneous disease group for genetic studies. The most studied subclinical markers in inflammatory bowel disease (IBD) are antineutrophil cytoplasmic antibodies (ANCAs) for ulcerative colitis (UC) and intestinal permeability for Crohn's disease (CD). Even so, for these as well as several other promising subclinical markers, there is an obvious need for more twin, family and genetic marker studies. An elevated intestinal permeability in a proportion of unaffected relatives of CD patients has been observed in the majority of family studies. ANCAs, a highly specific marker for UC, have been found with a significantly increased prevalence in unaffected relatives of UC patients compared with spouses of the patients. Moreover, the distribution of the ANCAs is familial rather than random, suggesting heterogeneity within UC. In combination with genetic marker studies (human leukocyte antigen [HLA] class II genes), the authors observed a differential association: ANCA-positive UC was associated with DR2, while ANCA-negative UC associated with DR4. These data lead to the conclusion that the heterogeneity indicated by ANCA is genetically determined and that this genetic heterogeneity should be taken into consideration in future genetic, clinical and pathophysiological studies. In the aggregate, these data indicate that the subclinical marker approach is a powerful means for demonstrating genetic and etiological heterogeneity, and can be an important tool to define the etiology and natural history of the various diseases that make up IBD.

scholarly journals Inflammatory bowel disease and Parkinson’s disease: common pathophysiological links

Gut ◽  
2020 ◽  
pp. gutjnl-2020-322429 ◽  
Author(s):  
Ho-Su Lee ◽  
Evy Lobbestael ◽  
Séverine Vermeire ◽  
João Sabino ◽  
Isabelle Cleynen
Keyword(s):  
Parkinson’S Disease ◽  
Inflammatory Bowel Disease ◽  
Parkinson's Disease ◽  
Bowel Disease ◽  
Population Based ◽  
Leucine Rich Repeat ◽  
Causal Gene ◽  
Genetic Studies ◽  
Inflammatory Bowel ◽  
Shared Genetic

Inflammatory bowel disease and Parkinson’s disease are chronic progressive disorders that mainly affect different organs: the gut and brain, respectively. Accumulating evidence has suggested a bidirectional link between gastrointestinal inflammation and neurodegeneration, in accordance with the concept of the ‘gut–brain axis’. Moreover, recent population-based studies have shown that inflammatory bowel disease might increase the risk of Parkinson's disease. Although the precise mechanisms underlying gut–brain interactions remain elusive, some of the latest findings have begun to explain the link. Several genetic loci are shared between both disorders with a similar direction of effect on the risk of both diseases. The most interesting example is LRRK2 (leucine-rich repeat kinase 2), initially identified as a causal gene in Parkinson's disease, and recently also implicated in Crohn’s disease. In this review, we highlight recent findings on the link between these seemingly unrelated diseases with shared genetic susceptibility. We discuss supporting and conflicting data obtained from epidemiological and genetic studies along with remaining questions and concerns. In addition, we discuss possible biological links including the gut–brain axis, microbiota, autoimmunity, mitochondrial function and autophagy.

scholarly journals Roles of Autophagy-Related Genes in the Pathogenesis of Inflammatory Bowel Disease

Cells ◽  
2019 ◽  
Vol 8 (1) ◽  
pp. 77 ◽  
Author(s):  
Sup Kim ◽  
Hyuk Eun ◽  
Eun-Kyeong Jo
Keyword(s):  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
Intestinal Inflammation ◽  
Paneth Cell ◽  
Conditional Knockout ◽  
Intestinal Homeostasis ◽  
Genetic Studies ◽  
Inflammatory Bowel ◽  
Direct Targeting ◽  
Catabolic Process

Autophagy is an intracellular catabolic process that is essential for a variety of cellular responses. Due to its role in the maintenance of biological homeostasis in conditions of stress, dysregulation or disruption of autophagy may be linked to human diseases such as inflammatory bowel disease (IBD). IBD is a complicated inflammatory colitis disorder; Crohn’s disease and ulcerative colitis are the principal types. Genetic studies have shown the clinical relevance of several autophagy-related genes (ATGs) in the pathogenesis of IBD. Additionally, recent studies using conditional knockout mice have led to a comprehensive understanding of ATGs that affect intestinal inflammation, Paneth cell abnormality and enteric pathogenic infection during colitis. In this review, we discuss the various ATGs involved in macroautophagy and selective autophagy, including ATG16L1, IRGM, LRRK2, ATG7, p62, optineurin and TFEB in the maintenance of intestinal homeostasis. Although advances have been made regarding the involvement of ATGs in maintaining intestinal homeostasis, determining the precise contribution of autophagy has remained elusive. Recent efforts based on direct targeting of ATGs and autophagy will further facilitate the development of new therapeutic opportunities for IBD.

scholarly journals The antibody to Saccharomyces cerevisiae in patients with inflammatory bowel disease and its correlation to intestinal permeability

2000 ◽  
Vol 118 (4) ◽  
pp. A1350
Author(s):  
You Sun Kim ◽  
Jin Hyuk Lee ◽  
Joo Sung Kim ◽  
Hyun Chae Jung ◽  
In Sung Song ◽  
...  
Keyword(s):  
Saccharomyces Cerevisiae ◽  
Inflammatory Bowel Disease ◽  
Intestinal Permeability ◽  
Bowel Disease ◽  
Inflammatory Bowel

scholarly journals Intestinal Permeability in Inflammatory Bowel Disease: Pathogenesis, Clinical Evaluation, and Therapy of Leaky Gut

2015 ◽  
Vol 2015 ◽  
pp. 1-10 ◽  
Author(s):  
Andrea Michielan ◽  
Renata D’Incà
Keyword(s):  
Inflammatory Bowel Disease ◽  
Intestinal Permeability ◽  
Bowel Disease ◽  
Intestinal Inflammation ◽  
Mucosal Barrier ◽  
Mucosal Inflammation ◽  
Confocal Laser Endomicroscopy ◽  
Confocal Laser ◽  
Sugar Absorption ◽  
Inflammatory Bowel

The pathogenesis of inflammatory bowel disease (IBD) is multifactorial with data suggesting the role of a disturbed interaction between the gut and the intestinal microbiota. A defective mucosal barrier may result in increased intestinal permeability which promotes the exposition to luminal content and triggers an immunological response that promotes intestinal inflammation. IBD patients display several defects in the many specialized components of mucosal barrier, from the mucus layer composition to the adhesion molecules that regulate paracellular permeability. These alterations may represent a primary dysfunction in Crohn’s disease, but they may also perpetuate chronic mucosal inflammation in ulcerative colitis. In clinical practice, several studies have documented that changes in intestinal permeability can predict IBD course. Functional tests, such as the sugar absorption tests or the novel imaging technique using confocal laser endomicroscopy, allow anin vivoassessment of gut barrier integrity. Antitumor necrosis factor-α(TNF-α) therapy reduces mucosal inflammation and restores intestinal permeability in IBD patients. Butyrate, zinc, and some probiotics also ameliorate mucosal barrier dysfunction but their use is still limited and further studies are needed before considering permeability manipulation as a therapeutic target in IBD.

Small Intestinal Permeability in Patients with Inflammatory Bowel Disease

1983 ◽  
Vol 64 (2) ◽  
pp. 61P-61P ◽  
Author(s):  
I. Bjarnason ◽  
C. O'Morain ◽  
A.J. Levi ◽  
T.J. Peters
Keyword(s):  
Inflammatory Bowel Disease ◽  
Intestinal Permeability ◽  
Bowel Disease ◽  
Inflammatory Bowel ◽  
Small Intestinal

Reactive arthritis and enteropathic arthropathy

2013 ◽  
pp. 901-910
Author(s):  
J. S. Hill Gaston
Keyword(s):  
Inflammatory Bowel Disease ◽  
Back Pain ◽  
Bowel Disease ◽  
Reactive Arthritis ◽  
Inflammatory Back Pain ◽  
Hla B27 ◽  
Genetic Studies ◽  
Inflammatory Bowel ◽  
Disease Modifying ◽  
Crystal Induced Arthritis

Reactive arthritis (ReA), and enteropathic arthritis secondary to inflammatory bowel disease, are forms of spondyloarthritis, all of which share an association with HLA B27 and can involve both axial and peripheral joints. Genetic studies strongly implicate the cytokines IL-17 and IL-23 in their pathogenesis, and evidence for autoimmunity is lacking. ReA is triggered by particular bacteria, mainly affecting the gut and genitourinary tract, though infections are sometimes asymptomatic. Classically an acute oligo- or monoarthritis with enthesitis occurs, often with inflammatory back pain, though mild polyarthritis can also occur. Septic and crystal-induced arthritis are the principal differential diagnoses. Extra-articular features may aid diagnosis, which otherwise requires laboratory evidence of preceding infection. Bacterial components traffic to the joint (which is nevertheless sterile), and elicit local pro-inflammatory immune responses. Most ReA is self-limiting, but persistent cases may require disease-modifying anti-rheumatic drugs or even biologics.

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