Increased expression of exon 2 deleted MEFV transcript in familial Mediterranean fever patients

Abstract

A defect in MEFV gene expression regulation has been implicated in familial Mediterranean fever (FMF) etiopathophysiology. Here we show significantly higher expression level in second exon lacking MEFV transcript in FMF patients compared with healthy controls (P = 0.026). Our results also point out a possible role of exon 2 deleted MEFV transcript in FMF pathogenesis.