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Novel Deleterious nsSNPs within MEFV Gene that Could Be Used as Diagnostic Markers to Predict Hereditary Familial

Mujahed I Mustafa1,2, Tebyan A Abdelhameed2, Fatima A Abdelrhman2

  • 1Department of Biochemistry, University of Bahri, Sudan.

Advances in Bioinformatics
|July 6, 2019
PubMed
Abstract

Insights

Computational analysis identified 23 novel mutations in the MEFV gene that may cause Familial Mediterranean Fever (FMF). These findings prioritize SNPs for genetic studies and could serve as diagnostic markers for Mediterranean populations.

Area of Science:

  • Genetics
  • Bioinformatics
  • Computational Biology

Background:

  • Familial Mediterranean Fever (FMF) is a prevalent autoinflammatory disease (AID) primarily affecting Mediterranean populations.
  • The MEFV gene is implicated in FMF pathogenesis, but pathogenic single nucleotide polymorphisms (SNPs) require further identification.

Purpose of the Study:

  • To computationally identify pathogenic SNPs within the MEFV gene.
  • To prioritize novel mutations for future genetic mapping and diagnostic studies.

Main Methods:

  • In silico prediction of structural and functional effects of SNPs using various bioinformatics tools.
  • Analysis of 857 non-synonymous SNPs (nsSNPs) in the MEFV gene.

Main Results:

  • Identified 23 novel nsSNPs with predicted deleterious effects on MEFV protein structure and function.
  • These novel mutations represent potential causative variants for FMF.

Conclusions:

  • This study presents the first in silico analysis of the MEFV gene for SNP prioritization.
  • The identified 23 novel mutations are potential diagnostic markers for FMF in Mediterranean basin populations.

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