Abstract
The inflammasome complex and the inflammatory pathway have been implicated in the pathogenesis of familial Mediterranean fever (FMF), and recently ASC (apoptosis-associated speck-like protein containing a CARD) mRNA expression was found to be up-regulated in patients carrying MEFV mutations independent of the mutation type. Gene-expression profiling has the capacity to reveal transcriptome profiles to discriminate disease phenotypes to understand a given disease and bring to light new diagnostic and predictive biomarkers.
Highlights
The inflammasome complex and the inflammatory pathway have been implicated in the pathogenesis of familial Mediterranean fever (FMF), and recently ASC mRNA expression was found to be up-regulated in patients carrying MEFV mutations independent of the mutation type
Total mRNA was extracted from peripheral blood
In the first family composed of the grandmother, her son and her nephew, all heterozygous for M694V, we compared the two subjects with clinical diagnosis of FMF, in complete remission under colchicine, to the healthy carrier.We obtained a list of 73 genes regulated in the same direction
Summary
The inflammasome complex and the inflammatory pathway have been implicated in the pathogenesis of familial Mediterranean fever (FMF), and recently ASC (apoptosis-associated speck-like protein containing a CARD) mRNA expression was found to be up-regulated in patients carrying MEFV mutations independent of the mutation type. Gene-expression profiling has the capacity to reveal transcriptome profiles to discriminate disease “phenotypes” to understand a given disease and bring to light new diagnostic and predictive biomarkers
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