Palestinian Medical and Pharmaceutical Journal (Pal. Med. Pharm. J.)

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Keywords

• Pattern of inheritance
• MEFV gene
• In Silico analysis
• amilial Mediterranean Fever
• SNPs.

Abstract

Familial Mediterranean fever (FMF), is a monogenic hereditary disorder, and recorded to be the most common auto-inflammatory disease associated to certain variants in MEFV gene, affecting people of Mediterranean descent. The high prevalence found in specific ethnicities including: Armenians, Arabs, Greek, non-Ashkenazi Jews and Turks. The major signs and symptoms including: fever attacks, inflammation in the abdomen (serositis), chest, skin and joints. The first attack usually occurs before the age of 20 years. The most severe complication is amyloid A, considered secondary damage (specially occur in kidney). By creating functional assays using specific biomarkers, it going to be possible to determine the clinical value of the numerous novel gene variants detected by gene sequencing in FMF. Recently, several data bases constitute a huge number of data conducted on FMF. Until now 398 variants were identified as being linked to MEFV gene. However, it has been evident that the process of interpreting the results of a diagnostic test can be quite difficult because some individuals with FMF may show only one or none of the known MEFV mutations, and vice versa, clinical symptoms are not always present when MEFV variants are carried. This review used multiple in silico study tools to follow up the update in computational analysis regarding MEFV gene SNPs. These bioinformatics tools found multiple novel mutations which can cause FMF symptoms and could be used as diagnostic markers between Mediterranean region individuals.

معلومات المقال

قيد النشر

الكلمات الإفتتاحية

• Pattern of inheritance
• MEFV gene
• In Silico analysis
• amilial Mediterranean Fever
• SNPs.

الملخص

Familial Mediterranean fever (FMF), is a monogenic hereditary disorder, and recorded to be the most common auto-inflammatory disease associated to certain variants in MEFV gene, affecting people of Mediterranean descent. The high prevalence found in specific ethnicities including: Armenians, Arabs, Greek, non-Ashkenazi Jews and Turks. The major signs and symptoms including: fever attacks, inflammation in the abdomen (serositis), chest, skin and joints. The first attack usually occurs before the age of 20 years. The most severe complication is amyloid A, considered secondary damage (specially occur in kidney). By creating functional assays using specific biomarkers, it going to be possible to determine the clinical value of the numerous novel gene variants detected by gene sequencing in FMF. Recently, several data bases constitute a huge number of data conducted on FMF. Until now 398 variants were identified as being linked to MEFV gene. However, it has been evident that the process of interpreting the results of a diagnostic test can be quite difficult because some individuals with FMF may show only one or none of the known MEFV mutations, and vice versa, clinical symptoms are not always present when MEFV variants are carried. This review used multiple in silico study tools to follow up the update in computational analysis regarding MEFV gene SNPs. These bioinformatics tools found multiple novel mutations which can cause FMF symptoms and could be used as diagnostic markers between Mediterranean region individuals.