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Gene Review

MEFV  -  Mediterranean fever

Homo sapiens

Synonyms: FMF, MEF, Marenostrin, Pyrin, TRIM20
 
 
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Disease relevance of MEFV

 

Psychiatry related information on MEFV

 

High impact information on MEFV

 

Chemical compound and disease context of MEFV

 

Biological context of MEFV

  • This association, which was present whatever the MEFV genotype, was extremely marked in patients homozygous for M694V (11/11) [18].
  • The presence of three frequent MEFV mutations in multiple Mediterranean populations strongly suggests a heterozygote advantage in this geographic region [19].
  • To evaluate the diagnostic and prognostic value of MEFV-gene analysis, we investigated 90 Armenian FMF patients from 77 unrelated families that were not selected through genetic-linkage analysis [1].
  • Consistent with the tissue specificity of expression, complete sequencing and analysis of upstream regulatory regions of MEFV revealed homology to myeloid-specific promoters and to more broadly expressed inflammatory promoter elements [20].
  • Here, we describe the isolation and expression of a novel human MEFV isoform, MEFV-d2, generated by in-frame alternative splicing of exon 2 [21].
 

Anatomical context of MEFV

 

Associations of MEFV with chemical compounds

 

Physical interactions of MEFV

 

Co-localisations of MEFV

 

Regulatory relationships of MEFV

 

Other interactions of MEFV

  • PAPA-associated A230T and E250Q PSTPIP1/CD2BP1 mutations markedly increased pyrin binding as assayed by immunoprecipitation and, relative to WT, these mutants were hyperphosphorylated when coexpressed with c-Abl kinase [23].
  • Disease severity was mainly influenced by MEFV mutations and was not associated with genotypes at the SAA1 locus [31].
  • Apoptosis-associated speck-like protein containing a caspase recruitment domain (ASC)/target of methylation-induced silencing/PYCARD represents one of only two proteins encoded in the human genome that contains a caspase recruitment domain (CARD) together with a pyrin, AIM, ASC, and death domain-like (PAAD)/PYRIN/DAPIN domain [32].
  • RESULTS: Linkage to both TNFRSF1A and MEFV was definitively excluded, and DNA sequencing of these genes revealed no mutations [33].
  • Severe disease in patients with rheumatoid arthritis carrying a mutation in the Mediterranean fever gene [4].
 

Analytical, diagnostic and therapeutic context of MEFV

  • The glycosylation of AGP in the MEFV carrier group, compared with that in a healthy control group, was characterised by a significant increase (p<0.05) in branching of the glycans, whereas the fucosylation remained unaffected [25].
  • METHODS: Mutations of the MEFV and TNFRSF1A genes, responsible respectively for FMF and TRAPS, were searched for by amplifying, using polymerase chain reaction (PCR), genomic DNA, and direct sequencing [34].
  • Semi-quantitative RT-PCR assays enabled estimation of MEFV induction by the cytokines at 10-100-fold and could not be further increased by concomitant addition of colchicine [35].
  • We sought additional upstream regulators of inflammation by using pyrin as the bait in yeast two-hybrid assays [23].
  • OBJECTIVES: To identify the ethnic, clinical, genetic, and pharmacokinetic correlates of colchicine treatment failure in patients with familial Mediterranean fever (FMF) [36].

References

  1. MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. Cazeneuve, C., Sarkisian, T., Pêcheux, C., Dervichian, M., Nédelec, B., Reinert, P., Ayvazyan, A., Kouyoumdjian, J.C., Ajrapetyan, H., Delpech, M., Goossens, M., Dodé, C., Grateau, G., Amselem, S. Am. J. Hum. Genet. (1999) [Pubmed]
  2. Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin. Tidow, N., Chen, X., Müller, C., Kawano, S., Gombart, A.F., Fischel-Ghodsian, N., Koeffler, H.P. Blood (2000) [Pubmed]
  3. An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome. Aganna, E., Zeharia, A., Hitman, G.A., Basel-Vanagaite, L., Allotey, R.A., Booth, D.R., Hawkins, P.N., Thacker, C., Syndercombe-Court, D., McDermott, M.F. Arthritis Rheum. (2002) [Pubmed]
  4. Severe disease in patients with rheumatoid arthritis carrying a mutation in the Mediterranean fever gene. Rabinovich, E., Livneh, A., Langevitz, P., Brezniak, N., Shinar, E., Pras, M., Shinar, Y. Ann. Rheum. Dis. (2005) [Pubmed]
  5. Association between reduced levels of MEFV messenger RNA in peripheral blood leukocytes and acute inflammation. Ustek, D., Ekmekci, C.G., Selçukbiricik, F., Cakiris, A., Oku, B., Vural, B., Yanar, H., Taviloglu, K., Ozbek, U., Gül, A. Arthritis Rheum. (2007) [Pubmed]
  6. The M694V variant of the familial Mediterranean fever gene is associated with sporadic early-onset Alzheimer's disease in an Italian population sample. Arra, M., Emanuele, E., Martinelli, V., Minoretti, P., Bertona, M., Geroldi, D. Dementia and geriatric cognitive disorders (2007) [Pubmed]
  7. The head-up tilt test with haemodynamic instability score in diagnosing chronic fatigue syndrome. Naschitz, J.E., Rosner, I., Rozenbaum, M., Naschitz, S., Musafia-Priselac, R., Shaviv, N., Fields, M., Isseroff, H., Zuckerman, E., Yeshurun, D., Sabo, E. QJM : monthly journal of the Association of Physicians. (2003) [Pubmed]
  8. Psychosocial correlates of incidence of attacks in children with Familial Mediterranean Fever. Gidron, Y., Berkovitch, M., Press, J. Journal of behavioral medicine. (2003) [Pubmed]
  9. CATERPILLER: a novel gene family important in immunity, cell death, and diseases. Ting, J.P., Davis, B.K. Annu. Rev. Immunol. (2005) [Pubmed]
  10. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Hoffman, H.M., Mueller, J.L., Broide, D.H., Wanderer, A.A., Kolodner, R.D. Nat. Genet. (2001) [Pubmed]
  11. Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states. Schaner, P., Richards, N., Wadhwa, A., Aksentijevich, I., Kastner, D., Tucker, P., Gumucio, D. Nat. Genet. (2001) [Pubmed]
  12. Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16. Pras, E., Aksentijevich, I., Gruberg, L., Balow, J.E., Prosen, L., Dean, M., Steinberg, A.D., Pras, M., Kastner, D.L. N. Engl. J. Med. (1992) [Pubmed]
  13. The systemic autoinflammatory diseases: inborn errors of the innate immune system. Brydges, S., Kastner, D.L. Curr. Top. Microbiol. Immunol. (2006) [Pubmed]
  14. Bronchodilator response in adult patients with cystic fibrosis: effects on large and small airways. van Haren, E.H., Lammers, J.W., Festen, J., van Herwaarden, C.L. Eur. Respir. J. (1991) [Pubmed]
  15. Induced TNF production in vitro as a test for familial Mediterranean fever. Schattner, A., Gurevitz, A., Zemer, D., Hahn, T. QJM : monthly journal of the Association of Physicians. (1996) [Pubmed]
  16. Cisplatin treatment triggers familial Mediterranean fever attacks. Toubi, E., Gershoni-Baruch, R., Kuten, A. Tumori. (2003) [Pubmed]
  17. Colchicine treatment of AA amyloidosis of familial Mediterranean fever. An analysis of factors affecting outcome. Livneh, A., Zemer, D., Langevitz, P., Laor, A., Sohar, E., Pras, M. Arthritis Rheum. (1994) [Pubmed]
  18. Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. Cazeneuve, C., Ajrapetyan, H., Papin, S., Roudot-Thoraval, F., Geneviève, D., Mndjoyan, E., Papazian, M., Sarkisian, A., Babloyan, A., Boissier, B., Duquesnoy, P., Kouyoumdjian, J.C., Girodon-Boulandet, E., Grateau, G., Sarkisian, T., Amselem, S. Am. J. Hum. Genet. (2000) [Pubmed]
  19. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Aksentijevich, I., Torosyan, Y., Samuels, J., Centola, M., Pras, E., Chae, J.J., Oddoux, C., Wood, G., Azzaro, M.P., Palumbo, G., Giustolisi, R., Pras, M., Ostrer, H., Kastner, D.L. Am. J. Hum. Genet. (1999) [Pubmed]
  20. The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Centola, M., Wood, G., Frucht, D.M., Galon, J., Aringer, M., Farrell, C., Kingma, D.W., Horwitz, M.E., Mansfield, E., Holland, S.M., O'Shea, J.J., Rosenberg, H.F., Malech, H.L., Kastner, D.L. Blood (2000) [Pubmed]
  21. Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus. Papin, S., Duquesnoy, P., Cazeneuve, C., Pantel, J., Coppey-Moisan, M., Dargemont, C., Amselem, S. Hum. Mol. Genet. (2000) [Pubmed]
  22. The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases. Centola, M., Aksentijevich, I., Kastner, D.L. Hum. Mol. Genet. (1998) [Pubmed]
  23. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Shoham, N.G., Centola, M., Mansfield, E., Hull, K.M., Wood, G., Wise, C.A., Kastner, D.L. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  24. Tumor necrosis factor in familial Mediterranean fever. Schattner, A., Lachmi, M., Livneh, A., Pras, M., Hahn, T. Am. J. Med. (1991) [Pubmed]
  25. Specific glycosylation of alpha(1)-acid glycoprotein characterises patients with familial Mediterranean fever and obligatory carriers of MEFV. Poland, D.C., Drenth, J.P., Rabinovitz, E., Livneh, A., Bijzet, J., van het Hof, B., van Dijk, W. Ann. Rheum. Dis. (2001) [Pubmed]
  26. Activation of the cytokine network in familial Mediterranean fever. Gang, N., Drenth, J.P., Langevitz, P., Zemer, D., Brezniak, N., Pras, M., van der Meer, J.W., Livneh, A. J. Rheumatol. (1999) [Pubmed]
  27. A member of the Pyrin family, IFI16, is a novel BRCA1-associated protein involved in the p53-mediated apoptosis pathway. Aglipay, J.A., Lee, S.W., Okada, S., Fujiuchi, N., Ohtsuka, T., Kwak, J.C., Wang, Y., Johnstone, R.W., Deng, C., Qin, J., Ouchi, T. Oncogene (2003) [Pubmed]
  28. A poxvirus-encoded pyrin domain protein interacts with ASC-1 to inhibit host inflammatory and apoptotic responses to infection. Johnston, J.B., Barrett, J.W., Nazarian, S.H., Goodwin, M., Ricuttio, D., Wang, G., McFadden, G. Immunity (2005) [Pubmed]
  29. Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis. Richards, N., Schaner, P., Diaz, A., Stuckey, J., Shelden, E., Wadhwa, A., Gumucio, D.L. J. Biol. Chem. (2001) [Pubmed]
  30. Expression of the familial Mediterranean fever gene and activity of the C5a inhibitor in human primary fibroblast cultures. Matzner, Y., Abedat, S., Shapiro, E., Eisenberg, S., Bar-Gil-Shitrit, A., Stepensky, P., Calco, S., Azar, Y., Urieli-Shoval, S. Blood (2000) [Pubmed]
  31. The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever. Gershoni-Baruch, R., Brik, R., Zacks, N., Shinawi, M., Lidar, M., Livneh, A. Arthritis Rheum. (2003) [Pubmed]
  32. Apoptosis-associated speck-like protein containing a caspase recruitment domain is a regulator of procaspase-1 activation. Stehlik, C., Lee, S.H., Dorfleutner, A., Stassinopoulos, A., Sagara, J., Reed, J.C. J. Immunol. (2003) [Pubmed]
  33. An autosomal dominant periodic fever associated with AA amyloidosis in a north Indian family maps to distal chromosome 1q. McDermott, M.F., Aganna, E., Hitman, G.A., Ogunkolade, B.W., Booth, D.R., Hawkins, P.N. Arthritis Rheum. (2000) [Pubmed]
  34. Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks. Dodé, C., Hazenberg, B.P., Pêcheux, C., Cattan, D., Moulin, B., Barthélémy, A., Gubler, M.C., Delpech, M., Grateau, G. Nephrol. Dial. Transplant. (2002) [Pubmed]
  35. Effect of colchicine and cytokines on MEFV expression and C5a inhibitor activity in human primary fibroblast cultures. Abedat, S., Urieli-Shoval, S., Shapira, E., Calko, S., Ben-Chetrit, E., Matzner, Y. Isr. Med. Assoc. J. (2002) [Pubmed]
  36. Colchicine nonresponsiveness in familial Mediterranean fever: clinical, genetic, pharmacokinetic, and socioeconomic characterization. Lidar, M., Scherrmann, J.M., Shinar, Y., Chetrit, A., Niel, E., Gershoni-Baruch, R., Langevitz, P., Livneh, A. Semin. Arthritis Rheum. (2004) [Pubmed]
 
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