Molecular-Genetic Aspects of Familial Mediterranean Fever and the Role of the Ethnic Factor in the Manifestation of This Disease in the Republic of Crimea
DOI:
https://doi.org/10.12775/PPS.2026.31.70050Keywords
familial Mediterranean fever, monogenic disease, MEFV gene, pyrin proteinAbstract
The study and diagnosis of monogenic diseases is based on population analysis of the frequency of pathological genes. One of the rarest hereditary pathologies in the Russian Federation is Familial Mediterranean Fever (FMF). This monogenic disease is prevalent among Sephardic Jews, Turks, Arabs, Armenians, Italians, and peoples of the North Caucasus. It is characterized by recurrent short episodes of fever and serositis, resulting in abdominal pain, chest pain on inspiration, joint pain, muscle pain, and heel pain. Fever is accompanied by nausea, vomiting, diarrhea, erythematous spots on the extremities, and in males — swelling of the scrotum and penis. Neurological disorders may also develop. One of the main symptoms is amyloidosis, which, if untreated, can lead to renal failure. FMF results from mutations in the MEFV gene, located on the short arm of chromosome 16. It encodes the protein pyrin, which participates in immune defense. According to the 2021 All-Russian Population Census, the Republic of Crimea is home to 352,000 Crimean Tatars (14.1% of the total population, ranking 2nd among all nationalities), 41 Arabs, 7,717 Armenians, and 1,655 Jews — all potential carriers of this disease. Indeed, 17 cases of the disease have been recorded in the region (Zhogova O.V. et al., 2019). All patients identified themselves as Crimean Tatars.
References
Zhogova O.V., Lagunova N.V., Ivanovsky S.V., Salugina S.O., Kostik M.M. Familial Mediterranean fever in the Republic of Crimea: description of a series of cases with analysis of historical and ethnographic aspects of the disease. // Scientific and Practical Rheumatology. — 2019. Vol. 57, No. 3. — P. 339–344.
Serdobintsev K.V. The complement system. Pathology, diagnostics, treatment. // Allergology and Immunology in Pediatrics. — 2016. Vol. 3, No. 46. — P. 33–39.
Centola M., Wood G., Frucht D.M. et al. The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. // Free article — 2000. pmid: 10807793.
Chae J.J., Wood G., Masters S.L. et al. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. // Proc Natl Acad Sci U S A — 2006. doi: 10.1073/pnas.0602081103.
Gunesacar R., Celik M.M., Arica V. et al. Frequency of MEFV gene mutations in Hatay province, Mediterranean region of Turkey and report of a novel missense mutation (I247V). // GENE. — 2014. Vol. 546, No. 2. — P. 194–199. doi: 10.1016/j.gene.2014.06.019.
Mansfield E., Chae J.J., Komarov H.D. et al. The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. // Free article — 2001. pmid: 11468188. doi: 10.1182/blood.v98.3.851.
Masters S.L., Lagou V., Jeru I. et al. Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation. // Free article — 2016. doi: 10.1126/scitranslmed.aaf1471.
Papin S., Duquenoy P., Kaznev K. et al. Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus. // Human Molecular Genetics. — 2000. Vol. 9. — P. 3001–3009. doi: 10.1093/hmg/9.20.3001.
Seza Özen, Batu E.D., Demir S. Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management. // Frontiers in Immunology. — 2017. doi: 10.3389/fimmu.2017.00253.
Shohat M., Magal N., Shohat T. et al. Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis. // European Journal of Human Genetics. — 1999. Vol. 7, No. 3. — P. 287–292. doi: 10.1038/sj.ejhg.5200303.
Tidow N., Chen X., Muller C. et al. Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin. // Free article — 2000. pmid: 10666224.
Tomonori K., Ashish J., Song Won Choi et al. TRIM-mediated precision autophagy targets cytoplasmic regulators of innate immunity. // Journal of Cell Biology. — 2015. Vol. 210, No. 6. — P. 973–989. doi: 10.1083/jcb.201503023.
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