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Chronic Salmonella Infection Induced Intestinal Fibrosis
Published on: September 22, 2019
Involvement of Mediterranean fever gene mutations in colchicine-responsive enterocolitis: a retrospective cohort
Hiroshi Nakase1, Kohei Wagatsuma1, Taku Kobayashi2
1Department of Gastroenterology and Hepatology, Sapporo Medical University School of Medicine, Sapporo, Japan.
Background:
The involvement of Mediterranean fever (MEFV) gene mutations in patients with inflammatory bowel disease unclassified (IBDU) remains unclear. This study aimed to determine the clinical characteristics and responsiveness to colchicine in Japanese patients with IBDU carrying MEFV mutations.
Methods:
In this retrospective cohort study, we examined MEFV mutations using gene analysis, clinical information, and colchicine responsiveness. Furthermore, we examined cytokine production in exon 2-mutated THP-1 cells (a monocytic cell line) and microbiome analysis.
Findings:
Of the 396 patients diagnosed with IBDU, 60.1% had MEFV mutations. Exon 2 mutations were the most common (83.7%). Among patients with available clinical information, 43.3% of patients with IBDU had typical Familial Mediterranean fever (FMF). The efficacy of colchicine in patients with IBDU carrying MEFV mutations was 84.6%. Significant differences were noted in the production of inflammatory; cytokines between THP-1 cells with and without MEFV mutations. Microbial compositions differed between patients with IBDU carrying MEFV mutations and patients with IBD and healthy controls.
Interpretation:
Patients with IBDU carrying MEFV mutations responded well to colchicine treatment. A notable subset of patients met the criteria for typical FMF. Alterations in intestinal microbiota may contribute to disease pathogenesis.
Funding:
This work was supported by the Japan Agency for Medical Research and Development (21ek0410057h0003), a grant from the Uehara Memorial Foundation, and the Health and Labour Sciences Research Grants for research on intractable diseases from the Ministry of Health, Labour and Welfare (MHLW) of Japan (Investigation and Research for Intractable Inflammatory Bowel Disease; Grant Number 20316729).
Insights
Mediterranean fever (MEFV) gene mutations are common in inflammatory bowel disease unclassified (IBDU) and respond well to colchicine. Altered gut microbiota may play a role in IBDU pathogenesis.
Area of Science:
- Genetics and Molecular Biology
- Gastroenterology
- Immunology
Background:
- The role of Mediterranean fever (MEFV) gene mutations in inflammatory bowel disease unclassified (IBDU) is not well understood.
- MEFV mutations are associated with Familial Mediterranean Fever (FMF), an autoinflammatory disorder.
Purpose of the Study:
- To investigate the prevalence of MEFV mutations in Japanese patients with IBDU.
- To determine the clinical characteristics and colchicine responsiveness in Japanese IBDU patients with MEFV mutations.
- To explore the impact of MEFV mutations on cytokine production and gut microbiome composition.
Main Methods:
- Retrospective cohort study analyzing MEFV mutations via gene analysis.
- Clinical data and colchicine responsiveness were assessed.
- Cytokine production in THP-1 cells and microbiome analysis were performed.
Main Results:
- MEFV mutations were found in 60.1% of 396 IBDU patients, with exon 2 mutations being most frequent (83.7%).
- 43.3% of IBDU patients with MEFV mutations met criteria for typical Familial Mediterranean Fever (FMF).
- Colchicine efficacy was 84.6% in IBDU patients with MEFV mutations, with significant differences in cytokine production and distinct microbial compositions observed.
Conclusions:
- Japanese IBDU patients with MEFV mutations show good response to colchicine treatment.
- A significant subset of IBDU patients with MEFV mutations exhibit characteristics of typical FMF.
- Gut microbiota alterations may contribute to the pathogenesis of IBDU in patients with MEFV mutations.
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