Article

Population genetics of familial Mediterranean fever: A review

Institute of Man, Yerevan, Armenia.
European Journal of HumanGenetics (Impact Factor: 4.35). 10/2007; 15(9):911-6. DOI: 10.1038/sj.ejhg.5201869
Source: PubMed

ABSTRACT

In this review, some principal population genetic features of familial Mediterranean fever (FMF) are considered. These relate to the time and the place of founder mutations' origins, the role of ancient migrations and contacts between populations in the spatial spreading of the disorder, the influence of environmental factors and cultural traditions on the rate of FMF incidence, and possible selective advantage in carriers of FMF causing gene (MEFV) mutations.

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Available from: Levon Yepiskoposyan, Jun 05, 2014
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    • "Reasons for the differences in the prevalence of the disease in different ethnic groups are still unknown.1,4-7 The influence of environmental factors or a selective advantage of the heterozygote has been suggested in those from the Mediterranean area.8 "
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    ABSTRACT: Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by periodic episodes of fever and recurrent polyserositis. It is caused by a dysfunction of pyrin (or marenostrin) as a result of a mutation within the MEFV gene. It occurs mostly in individuals of Mediterranean origin; however, it has also been reported in non-Mediterranean populations. In this report, we describe the first case of FMF in a Korean child. As eight-year-old boy presented recurrent febrile attacks from an unknown cause, an acute scrotum and renal amyloidosis. He also showed splenomegaly, lymphadenopathy, pleural effusion, ascites and elevated acute phase reactants. After MEFV gene analysis, he was diagnosed as FMF combined with amyloidosis.
    Full-text · Article · Mar 2012 · Yonsei medical journal
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    • "Aside from that association, however, specific MEFV mutations are not the sole determinants of phenotypic features such as age of onset, frequency or duration of attacks, expression of particular symptoms, or response to colchicine. Yepiskoposyan and Harutyunyan (2007) reported FMF inflammatory attacks can be triggered by stress and extreme physical exercise. In general, the effect of environment on the inflammatory attacks in FMF is not surprising and is also seen in other cyclic conditions such as sickle cell anemia. "
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    ABSTRACT: This project was conducted to study Familial Mediterranean Fever (FMF) which is an autosomal recessive condition that primarily affect population of the Mediterranean basin , If undiagnosed effectively and treated with colchicine for life it may lead to serious consequences in terms of renal amyloidosis and renal failure . We aim to check for the presence of FMF mutations among clinically suspected cases among Saudi subjects in Al-Qassim region by PCR technique, also as an important step for family counseling and case management. The study is a pilot study to check for the presence of FMF mutations among suspected cases (24 cases) from Saudi subjects in Al Qassim region, The control subjects (7) were selected from healthy volunteers. We examined FMF mutations by PCR technique for MEFV gene analysis in order to establish a diagnosis of FMF by examining two common mutations, M694V and E148Q.. We found 8.3 % of cohort are positive for M694V mutation , and all cohort are negative for E148Q mutation . Moreover we found no correlation between clinical severity of the disease phenotype and the nature of the mutation. So genetic counseling by PCR technique provides a rapid, reliable, cost-effective, noninvasive, and sensitive test for establishing a diagnosis of FMF in symptomatic patients & also provides a rational basis for medical and genetic counseling and of FMF patients and their families. [Mahmoud El Sayed and Badr Al Jarallah.
    Full-text · Article · Jan 2012
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    ABSTRACT: The characterization of patients with recurrent inflammatory syndromes into distinct clinical phenotypes provided early clues to the mode of inheritance of these conditions and facilitated the subsequent identification of causative gene mutations. The prototype autoinflammatory syndrome, familial Mediterranean fever, is characterized by self-limiting episodes of localized inflammation. Hallmarks of the classical autoimmune response are largely absent. The use of positional cloning techniques led to the identification of the causative gene, MEFV, and its product pyrin. This previously unrecognized protein plays an important role in modulating the innate immune response. Cryopyrin, the protein encoded by CIAS1, is mutated in a spectrum of autoinflammatory conditions, the cryopyrinopathies. In response to a wide range of potential pathogens, it forms a macromolecular complex termed the "inflammasome," resulting in caspase-1 activation and subsequent release of the active proinflammatory cytokine interleukin-1beta (IL-1beta). The role of an established biochemical pathway in regulating inflammation was uncovered by the discovery that the hyperimmunoglobulin D with periodic fever syndrome (HIDS) results from mutations in MVK, which encodes an enzyme in the isoprenoid pathway. The discovery that mutations in the gene encoding tumor necrosis factor (TNF) receptor 1 (TNFR1) cause a proinflammatory phenotype was unanticipated, as it seemed more likely that such mutations would instead have resulted in an immunodeficiency pattern. This review describes the clinical phenotypes of autoinflammatory syndromes, the underlying gene mutations, and current concepts regarding their pathophysiology.
    Preview · Article · Feb 2008 · Current topics in microbiology and immunology
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