Evaluation of the gene expression in Egyptian patients with familial Mediterranean fever | ||||
| Middle East Journal of Medical Genetics | ||||
| Volume 9, Issue 2, May 2021 PDF (360.38 K) | ||||
| DOI: 10.4103/MXE.MXE_20_20 | ||||
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| Authors | ||||
| Randa S. Lotfy; Ola S. M. Ali; Waheba A. Zarouk; Hala T. El-Bassyouni; Ghada M. Shehata | ||||
| Abstract | ||||
| Background Familial Mediterranean fever (FMF) is the most common autosomal recessive autoinflammatory disease worldwide, mainly affecting patients of Mediterranean origin. It is the first hereditary periodic fever syndrome whose gene has been identified. Correlation between the mRNA level of the gene and FMF pathogenesis is elusive. Aim This study aims to investigate the relationship between common mutations in gene and the mRNA expression in Egyptian patients with FMF, as well as the phenotype/genotype correlation. Patients and methods This study included 65 patients with FMF, who were chosen based on clinical criteria as well as 26 healthy controls. Mutation detection was performed by direct Sanger sequencing and restriction fragment length polymorphism. Quantitative real-time PCR was employed to assess the relative expression level of the gene. Results The data revealed significantly lower gene expression in patients compared with healthy controls ( = 0.001). mRNA expression level was lower in patients with identified mutations compared with those with undetected mutations. However, the difference was statistically insignificant. Additionally, we found that the gene expression level was not associated with age, consanguinity, disease severity, or serum amyloid A levels. Conclusion The study confirmed the relation between reduced expression level and the FMF disease, which emphasizes the role of gene expression in the pathogenesis of this disease. | ||||
| Keywords | ||||
| autoinflammatory disease; Familial Mediterranean fever; Gene expression; Gene; mutations | ||||
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