Frequency of MEFV gene 12 mutations in Egyptian Patients with Familial Mediterranean Fever Disease In Relation To Disease Presentation

Abstract

Familial Mediterranean fever (FMF) is a disorder characterized by recurrent acute attacks of fever accompanied by abdominal pain, arthritis, and pleurisy. The most severe complication is the development of renal amyloidosis, which can be prevented by the daily and life-long administration of colchicine therapy. FMF is an autosomal recessive hereditary disease and occurs as a result of point mutations (Single substitutions) in the Mediterranean Fever (MEFV) gene on the short arm of chromosome 16. This gene encodes a protein called pyrine, which is essentially responsible for the regulation of apoptosis, inflammation and cytokines, and is mainly expressed in neutrophils, eosinophils, dendritic cells and fibroblasts. It is presumed that the mutated pyrine molecule is theoretically not able to suppress, and thus the inflammatory response develops. To date, more than 310 MEFV sequence variants have been reported. Most are located in exon 10, including the most common M694V, V726A, M680I and M694I mutations. The wide clinical variability in FM