Acta Scientific Gastrointestinal Disorders (ASGIS)(ISSN: 2582-1091)

Research Article Volume 3 Issue 12

Endoplasmic Reticulum Aminopeptidase-1 (ERAP-1) Mutations in People with Familial Mediterranean Fever (FMF) Gene Mutations Without Disease

Resat Dabak, Gulbuz Sezgin, Faith Oner Kaya, Feride Sinem Akgun, Oya Bayramicli and Selim Nalbant*

Department of Internal Medicine, Maltepe University, Turkey

*Corresponding Author: Nalbant, Department of Internal Medicine, Maltepe University, Turkey.

Received: October 22, 2020; Published:November 21, 2020



Background and Study Aim: To date, especially alterations of genes on exon 10 have been considered in Mediterranean fever (MEFV), but it is not clear whether all these alterations are disease-causing mutations.

We studied ERAP-1 gene mutations in people with FMF gene mutations without FMF phenotype. We compared our results with our previous study which we studied ERAP-1 gene mutations in patients with FMF and with ulcerative colitis (which has been shown to have a relation with ERAP-1 gene mutations before).

Patients and Methods: This is a retrospective study. We studied ERAP-1 gene mutation in blood samples (had been kept in -70°C before for different studies) from 51 people with FMF gene mutations without FMF disease. Some of these people also were followed for about 5 years whether FMF comes out.

Results: There were 10 cases without ERAP-1 mutations at Exon-3 and 6 cases without ERAP-1 mutations at Exon-10. Any ERAP-1 mutations were not obtained in three cases both for Exon-3 and 10.

There were 41 ERAP-1 gene mutations at Exon-3 and 48 at Exon-10. Exon-3 mutations were usually Codon 127 mutation for 35 patients whether it was single mutation or with multiple mutations. It was totally different our ERAP-1 mutation in patients with FMF for Exon-3. Because in our previous study, if there were ERAP-1 gene mutations at exon-3, [c.380G>C p.(Arg127Pro)] mutation always existed in patients with FMF Conclusion: As a conclusion, ERAP-1 may be the second needed genetic mutation to produce the disease, 2) Certain ERAP-1 genetic mutation may produce FMF together with certain pyrin gene mutation.

Keywords: Familial Mediterranean Fever; ERAP-1; Inflammation; M694



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Citation: Selim Nalbant., et al. “Endoplasmic Reticulum Aminopeptidase-1 (ERAP-1) Mutations in People with Familial Mediterranean Fever (FMF) Gene Mutations Without Disease”. Acta Scientific Gastrointestinal Disorders 3.12 (2020): 04-10.


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