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Erschienen in: Rheumatology International 10/2009

01.08.2009 | Letter to the Editor

M694V mutation may have a role in susceptibility to ankylosing spondylitis

verfasst von: Servet Akar, Merih Birlik, Ismail Sarı, Fatos Onen, Nurullah Akkoc

Erschienen in: Rheumatology International | Ausgabe 10/2009

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Excerpt

Familial Mediterranean fever (FMF) is an autosomal recessive disease, characterized by recurrent attacks of fever and serositis. Musculoskeletal involvement mostly in the form of arthritis is a common manifestation of FMF [1]. Moreover, an increased frequency of spondyloarthritis (SpA) including ankylosing spondylitis (AS) has been suggested by several case reports and two large observational studies [1, 2]. …
Literatur
5.
Zurück zum Zitat Canete JD, Arostegui JI, Queiro R, Gratacos J, Hernandez MV, Larrosa M et al (2007) An unexpectedly high frequency of MEFV mutations in patients with anti-citrullinated protein antibody-negative palindromic rheumatism. Arthritis Rheum 56(8):2784–2788. doi:10.1002/art.22755 PubMedCrossRef Canete JD, Arostegui JI, Queiro R, Gratacos J, Hernandez MV, Larrosa M et al (2007) An unexpectedly high frequency of MEFV mutations in patients with anti-citrullinated protein antibody-negative palindromic rheumatism. Arthritis Rheum 56(8):2784–2788. doi:10.​1002/​art.​22755 PubMedCrossRef
6.
Zurück zum Zitat Ozen S, Bakkaloglu A, Yilmaz E, Duzova A, Balci B, Topaloglu R et al (2003) Mutations in the gene for familial Mediterranean fever: do they predispose to inflammation? J Rheumatol 30:2014–2018PubMed Ozen S, Bakkaloglu A, Yilmaz E, Duzova A, Balci B, Topaloglu R et al (2003) Mutations in the gene for familial Mediterranean fever: do they predispose to inflammation? J Rheumatol 30:2014–2018PubMed
7.
Zurück zum Zitat Tunca M, Akar S, Hawkins PN, Booth SE, Sengul B, Yavuzsen TU et al (2002) The significance of paired MEFV mutations in individuals without symptoms of familial Mediterranean fever. Eur J Hum Genet 10:786–789. doi:10.1038/sj.ejhg.5200900 PubMedCrossRef Tunca M, Akar S, Hawkins PN, Booth SE, Sengul B, Yavuzsen TU et al (2002) The significance of paired MEFV mutations in individuals without symptoms of familial Mediterranean fever. Eur J Hum Genet 10:786–789. doi:10.​1038/​sj.​ejhg.​5200900 PubMedCrossRef
8.
Zurück zum Zitat Balaban B, Yasar E, Ozgul A, Dincer K, Kalyon TA (2005) Sacroiliitis in familial Mediterranean fever and seronegative spondyloarthropathy: importance of differential diagnosis. Rheumatol Int 25(8):641–644. doi:10.1007/s00296-004-0578-2 PubMedCrossRef Balaban B, Yasar E, Ozgul A, Dincer K, Kalyon TA (2005) Sacroiliitis in familial Mediterranean fever and seronegative spondyloarthropathy: importance of differential diagnosis. Rheumatol Int 25(8):641–644. doi:10.​1007/​s00296-004-0578-2 PubMedCrossRef
9.
Zurück zum Zitat Incel NA, Saracoglu M, Erdem HR (2003) Seronegative spondyloarthropathy of familial Mediterranean fever. Rheumatol Int 23(1):41–43PubMed Incel NA, Saracoglu M, Erdem HR (2003) Seronegative spondyloarthropathy of familial Mediterranean fever. Rheumatol Int 23(1):41–43PubMed
10.
Zurück zum Zitat van der Linden S, Valkenburg HA, Cats A (1984) Evaluation of diagnostic criteria for ankylosing spondylitis. A proposal for modification of the New York criteria. Arthritis Rheum 27(4):361–368. doi:10.1002/art.1780270401 PubMedCrossRef van der Linden S, Valkenburg HA, Cats A (1984) Evaluation of diagnostic criteria for ankylosing spondylitis. A proposal for modification of the New York criteria. Arthritis Rheum 27(4):361–368. doi:10.​1002/​art.​1780270401 PubMedCrossRef
11.
Zurück zum Zitat Stehlik C, Lee SH, Dorfleutner A, Stassinopoulos A, Sagara J, Reed JC (2003) Apoptosis-associated speck-like protein containing a caspase recruitment domain is a regulator of procaspase-1 activation. J Immunol 171(11):6154–6163PubMed Stehlik C, Lee SH, Dorfleutner A, Stassinopoulos A, Sagara J, Reed JC (2003) Apoptosis-associated speck-like protein containing a caspase recruitment domain is a regulator of procaspase-1 activation. J Immunol 171(11):6154–6163PubMed
12.
Zurück zum Zitat Chae JJ, Komarow HD, Cheng J, Wood G, Raben N, Liu PP et al (2003) Targeted distruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis. Mol Cell 11(3):591–604. doi:10.1016/S1097-2765(03)00056-X PubMedCrossRef Chae JJ, Komarow HD, Cheng J, Wood G, Raben N, Liu PP et al (2003) Targeted distruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis. Mol Cell 11(3):591–604. doi:10.​1016/​S1097-2765(03)00056-X PubMedCrossRef
13.
Zurück zum Zitat Flato B, Smerdel A, Johnston V, Lien G, Dale K, Vinje O et al (2002) The influence of patient characteristics, disease variables, and HLA alleles on the development of radiographically evident sacroiliitis in juvenile idiopathic arthritis. Arthritis Rheum 46(4):986–994. doi:10.1002/art.10146 PubMedCrossRef Flato B, Smerdel A, Johnston V, Lien G, Dale K, Vinje O et al (2002) The influence of patient characteristics, disease variables, and HLA alleles on the development of radiographically evident sacroiliitis in juvenile idiopathic arthritis. Arthritis Rheum 46(4):986–994. doi:10.​1002/​art.​10146 PubMedCrossRef
14.
Zurück zum Zitat Kogan A, Shinar Y, Lidar M, Revivo A, Langevitz P, Padeh S et al (2001) Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state. Am J Med Genet 102(3):272–276. doi:10.1002/ajmg.1438 PubMedCrossRef Kogan A, Shinar Y, Lidar M, Revivo A, Langevitz P, Padeh S et al (2001) Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state. Am J Med Genet 102(3):272–276. doi:10.​1002/​ajmg.​1438 PubMedCrossRef
15.
Zurück zum Zitat Yilmaz E, Ozen S, Balci B, Duzova A, Topaloglu R, Besbas N et al (2001) Mutation frequency of familial Mediterranean fever and evidence for a high carrier rate in the Turkish population. Eur J Hum Genet 9(7):553–555. doi:10.1038/sj.ejhg.5200674 PubMedCrossRef Yilmaz E, Ozen S, Balci B, Duzova A, Topaloglu R, Besbas N et al (2001) Mutation frequency of familial Mediterranean fever and evidence for a high carrier rate in the Turkish population. Eur J Hum Genet 9(7):553–555. doi:10.​1038/​sj.​ejhg.​5200674 PubMedCrossRef
16.
Zurück zum Zitat Onen F, Akar S, Birlik M, Sari I, Khan MA, Gurler O et al (2008) Prevalence of ankylosing spondylitis and related spondyloarthritides in an urban area of Izmir, Turkey. J Rheumatol 35(2):305–309PubMed Onen F, Akar S, Birlik M, Sari I, Khan MA, Gurler O et al (2008) Prevalence of ankylosing spondylitis and related spondyloarthritides in an urban area of Izmir, Turkey. J Rheumatol 35(2):305–309PubMed
17.
Zurück zum Zitat Cinar M, Dinc A, Simsek I, Erdem H, Koc B, Pay S et al (2008) The rate and significance of Mediterranean fever gene mutations in patients with ankylosing spondylitis: a three-month, longitudinal clinical study. Rheumatol Int 29(1):37–42. doi:10.1007/s00296-008-0637-1 PubMedCrossRef Cinar M, Dinc A, Simsek I, Erdem H, Koc B, Pay S et al (2008) The rate and significance of Mediterranean fever gene mutations in patients with ankylosing spondylitis: a three-month, longitudinal clinical study. Rheumatol Int 29(1):37–42. doi:10.​1007/​s00296-008-0637-1 PubMedCrossRef
Metadaten
Titel
M694V mutation may have a role in susceptibility to ankylosing spondylitis
verfasst von
Servet Akar
Merih Birlik
Ismail Sarı
Fatos Onen
Nurullah Akkoc
Publikationsdatum
01.08.2009
Verlag
Springer-Verlag
Erschienen in
Rheumatology International / Ausgabe 10/2009
Print ISSN: 0172-8172
Elektronische ISSN: 1437-160X
DOI
https://doi.org/10.1007/s00296-009-0839-1

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