Molecular Research Progress of Familial Mediterranean Fever
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Biology".
Deadline for manuscript submissions: closed (20 April 2024) | Viewed by 262
Special Issue Editor
Special Issue Information
Dear Colleagues,
Familial Mediterranean fever (FMF) is the most common inherited inflammatory disorder affecting an estimated 150,000 patients worldwide. The disease is characterized by self-limited, recurrent attacks of fever, accompanied by pain in the abdomen, chest, or joints and complications of amyloidosis. FMF predominantly affects Turks, Arabs, Armenians and Sephardic Jews, but it has been observed in lower frequencies throughout the Mediterranean area. The age of onset of FMF varies with about 60% and 90% of patients experiencing their first attack before the age of 10 and 20 years, respectively. Pyrin, an integral component of the pyrin inflammasome, is encoded by MEFV (Mediterranean Fever), the gene that is mutated in patients with FMF, and differently affects the disease phenotype and the risk of developing renal amyloidosis.To date, 391 sequence variants of the MEFV gene have been recorded, with up to one third of FMF patients carrying only a single or none of the common pathogenic MEFV mutations. Moreover, the clinical/functional relevance of some MEFV alleles is debated sometimes resulting in inconclusive genetic analysis. This special issue aimes at publishing cutting-edge research on the FMF pathophysiology, genotype-phenotype correlation, genetic epidemiology, and disease modifying factors.
Dr. Gernot Kriegshäuser
Guest Editor
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Keywords
- Familial Mediterranean fever
- pyrin
- inflammasome
- genotype-phenotype correlation
- genetic epidemiology
- disease modifying factor
