Novel Deleterious nsSNPs within MEFV Gene that Could Be Used as Diagnostic Markers to Predict Hereditary Familial Mediterranean Fever: Using Bioinformatics Analysis.

Mujahed I Mustafa,Fatima A Abdelrhman,Mohamed A Hassan,Soada A Osman,Tebyan A Abdelhameed

doi:10.1155/2019/1651587

Mujahed I Mustafa, Fatima A Abdelrhman + Show 3 more

Open Access

https://doi.org/10.1155/2019/1651587

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Abstract

Background Familial Mediterranean Fever (FMF) is the most common autoinflammatory disease (AID) affecting mainly the ethnic groups originating from Mediterranean basin. We aimed to identify the pathogenic SNPs in MEFV by computational analysis software. Methods We carried out in silico prediction of structural effect of each SNP using different bioinformatics tools to predict substitution influence on protein structure and function. Result 23 novel mutations out of 857 nsSNPs are found to have deleterious effect on the MEFV structure and function. Conclusion This is the first in silico analysis of MEFV gene to prioritize SNPs for further genetic mapping studies. After using multiple bioinformatics tools to compare and rely on the results predicted, we found 23 novel mutations that may cause FMF disease and it could be used as diagnostic markers for Mediterranean basin populations.

Highlights

Familial Mediterranean Fever is an autosomal recessive inherited inflammatory disease [1,2,3] that is principally seen in different countries [6,7,8,9,10]
The data on human MEFV gene was collected from National Center for Biological Information (NCBI) website [24]
The SNP information of the MEFV gene was retrieved from the NCBI dbSNP and the protein sequence was collected from Swiss Prot databases [25]

Summary

Introduction

Familial Mediterranean Fever is an autosomal recessive inherited inflammatory disease [1,2,3] (it has been observed that a substantial number of patients with clinical FMF possess only one demonstrable MEFV mutation [4, 5]) that is principally seen in different countries [6,7,8,9,10]. Most cases of FMF usually present with acute abdominal pain and fever [1, 3, 7], both of which are the main causes of referral in the emergency department [13]. All these factors may help in medical treatment. After using multiple bioinformatics tools to compare and rely on the results predicted, we found 23 novel mutations that may cause FMF disease and it could be used as diagnostic markers for Mediterranean basin populations

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Discussion

Conclusion