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The association of endoplasmic reticulum aminopeptidase-1 (ERAP-1) with Familial Mediterranean Fever (FMF)
Gülbüz Sezgin1, Reşat Dabak2, Fatih Oner Kaya1
1Department of Internal Medicine, Maltepe University Faculty of Medicine, Istanbul, Turkey.
Background:
The ERAP1 gene cleaves the receptors and reduces their ability to transmit chemical signals to the cell that affect the process of inflammation and, secondly, it cleaves many types of proteins into small peptides that are recognized by the immune system.
Objective:
ERAP-1 gene mutations may create a sensitivity for Familial Mediterranean Fever (FMF).
Method:
We included 15 FMF patients with the M694 (+) mutation in the study in order to exclude patients without pyrin gene mutations and create a homogeneous study group. Fifteen patients with ulcerative colitis formed the control group.
Results:
There wasn't any case without ERAP-1 gene mutations. At least one mutation at exon 3 or exon 10 was found in all cases in both groups. There were 14 ERAP-1 gene mutations at exon 10 and 11 at exon 3 in patients with FMF. Interestingly, if there were ERAP-1 gene mutations at exon 3, a p.Arg127 Pro (c.380 G>C) mutation always existed for three FMF patients with polymorphic mutations at this exon. There were 11 ERAP-1 gene mutations at exon 10 and 12 gene mutations at exon 3 in patients with ulcerative colitis. Exon 3 mutations were usually single p.Arg127 Pro (c.380 G>C) mutations for 12 patients with ulcerative colitis as seen in the patients with FMF. The single mutation was always p.Ser453 Ser (c.1359T>C) for patients with ulcerative colitis at exon 10.
Conclusion:
There are more ERAP-1 mutations in the FMF group in comparison to the ulcerative colitis group. So, there may be a strong susceptibility to ERAP-1 gene mutations in FMF patients according to our results. However, further studies with larger study and control groups are needed.
Insights
Familial Mediterranean Fever (FMF) patients show increased ERAP-1 gene mutations compared to ulcerative colitis patients. These ERAP-1 mutations may indicate a heightened susceptibility to FMF, warranting further investigation.
Area of Science:
- Genetics
- Immunology
- Molecular Biology
Background:
- The Endoplasmic Reticulum Aminopeptidase 1 (ERAP1) gene plays a crucial role in immune system regulation by processing peptides and influencing inflammatory signaling.
- ERAP1 activity impacts the transmission of cellular signals involved in inflammation and the presentation of antigens to immune cells.
Purpose of the Study:
- To investigate the potential association between ERAP-1 gene mutations and susceptibility to Familial Mediterranean Fever (FMF).
- To compare the prevalence of ERAP-1 gene mutations in FMF patients with a control group of ulcerative colitis patients.
Main Methods:
- A study group of 15 FMF patients with the M694 (+) mutation was selected to ensure genetic homogeneity.
- Fifteen patients diagnosed with ulcerative colitis served as the control group for comparison.
- ERAP-1 gene mutations were analyzed in both exon 3 and exon 10 in all participants.
Main Results:
- All participants across both FMF and ulcerative colitis groups exhibited at least one ERAP-1 gene mutation.
- FMF patients displayed 14 ERAP-1 mutations in exon 10 and 11 in exon 3, with a specific p.Arg127Pro mutation frequently observed in exon 3.
- Ulcerative colitis patients had 11 ERAP-1 mutations in exon 10 and 12 in exon 3, often presenting as single p.Arg127Pro or p.Ser453Ser mutations.
Conclusions:
- The FMF group exhibited a higher frequency of ERAP-1 gene mutations compared to the ulcerative colitis control group.
- These findings suggest a potential strong susceptibility to ERAP-1 gene mutations in individuals with FMF.
- Further comprehensive studies with larger cohorts are recommended to validate these preliminary results.
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