Öz
Aim. Mycobacterium tuberculosis infection is a critical public health problem all over the world. T-helper 1 cells play an important role in the pathogenesis of tuberculosis. There is an increased activity of T-helper 1 in Familial Mediterranean Fever (FMF) patients and carriers. Based on immunity, we undertaken this study to evaluate a possible association of MEFV gene mutations with resistance to tuberculosis. Method. This study was performed with 51 patients (23 females, 28 males) applied to Cumhuriyet University Medical Faculty Chest Diseases Department between 2007 and 2009 and diagnosed with tuberculosis by physical examination, microbiological and radiologic analysis and 57 controls (26 females, 31 males). In these groups, 12 common MEFV gene mutations were researched using revers hybridisation FMF Strip Assay (ViennaLab Labordiagnostika, Vienna, Austria) technique. Results. A significant difference was not detected between patient and control groups in terms of distribution of MEFV mutations (p>0.05). There were 22 MEFV gene mutations (43.1%) in patient group. Homozygous mutation was not detected in this group. All mutations in patient group were heterozygous. There was also no homozygous mutation in control group and total 29 (50.8%) heterozygous mutations were detected. Conclusion. Our results suggested that the mutation frequency of MEFV gene in tuberculosis patients was not significantly different from healthy population. FMF mutations may effect the survive of tuberculosis but not sicken.
Anahtar Kelimeler
Kaynakça
- Jasmer RM, Seaman CB, Gonzalez LC, Kawamura LM, Osmond DH, Daley CL. Tuberculosis treatment outcomes: Directly observed therapy compared with selfadministered therapy. Respir Crit Care Med 2004; 170: 561-6.
- JoAnne L. Chan F, Chan J. Immunology of tuberculosıs Annual Review of Immunology 2001; 19: 93-129.
- Romagnani, S. The Th1/Th2 paradigm. Immunol. Today 1997; 18: 263-6.
- Shinkai K, Kilcline C, Connolly MK, Frieden IJ. The pyrin family of fever genes: Unmasking genetic determinants of autoinflammatory disease. Arch Dermatol 2005; 141: 242-7.
- Kastner DL. FMF: The genetics of inflammation. Hosp Prac 1998; 33: 131-46. Samuels J, Ozen S. Familial Mediterranean fever and the other autoinflammatory syndromes: Evaluation of the patient with recurrent fever. Curr Opin Rheumatol 2006; 18: 108-17.
- Stehlik C. The Pyrin domain in signal transduction. Curr Protein. Pept Sci 2007; 8: 293-310.
- Keles M, Eyerci N, Uyanik A, Aydinli B, Sahin GZ, Cetinkaya R, Pirim I, Polat KY. The frequency of Familial Mediterranean Fever related amyloidosis in renal waiting list for transplantation. The Eurasian Journal of Medicine 2010; 42: 19
- John J. Goats R. Are the pyrin mutations responsible for Familial Mediterranean Fever protective against Brucellosis. Medical Hypotheses 2007; 68: 3, 499-501. Onen F. Familial Mediterranean fever. Rheumatol Int 2006; 26: 489-96.
- Aypar E, Ozen S, Okur H, Kutluk T, Besbas N, Bakkaloglu A. Th1 polarization in familial Mediterranean fever. J Rheumatol 2003; 9: 2011-3.
- Simsek I, Pay S, Pekel A, Dinc A, Musabak U, Erdem H, Sengul A. Serum proinflammatory cytokines directing T helper 1 polarization in patients with familial Mediterranean fever. Rheumatol Int 2007; 9: 807-11.
- Cattan D. MEFV Mutation Carriers and Diseases Other than Familial Mediterranean Fever: Proved and Non-Proved Associations; Putative Biological Advantage Current Drug Targets-Inflammation & Allergy 2005; 4: 1.
- Ross J. Goats, germs, and fever: Are the pyrin mutations responsible for familial Mediterranean fever protective against Brucellosis? Med Hypotheses 2007; 3: 499-50
- Ozen S, Balci B, Ozkara S, Ozcan A, Yilmaz E, Besbas N, Ozguc M, Kastner DL, Bakkaloglu A. Is there a heterozygote advantage for familial Mediterranean fever carriers against tuberculosis infections: Speculations remain. Clin Exp Rheumatol 2002; 20: 57-8. van Crevel R, Ottenhoff T, van der Meer J. Innate Immunity to Mycobacterium tuberculosis Clin Microbiol Rev 2002;15: 294-309.
- Cattan D. MEFV Mutation Carriers and Diseases Other than Familial Mediterranean Fever: Proved and Non-Proved Associations; Putative Biological Advantage Current Drug Targets - Inflammation&Allergy 2005; 4: 105-112.
- Centola M, Wood G, Frucht DM, Galon J, Aringer M, Farrell C. The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Blood 2000; 95: 3223-31.
- Akcan Y, Tuncer S, Unal S, Sökmensuer C, Haznedaroglu CI, Arslan S. Familial Mediterranean fever. No role of Mycobacterium tuberculosis in ten patients. Eur J Med Res 1999; 27: 161-4.
Öz
Özet
Amaç. Mycobacterium tuberculosis enfeksiyonu dünya üzerinde ciddi bir halk sağlığı sorunudur. T-helper 1 hücreleri tüberküloz patogenezinde önemli bir rol oynamaktadır. Ailesel Akdeniz Ateşi (FMF) hastaları ve taşıyıcılarında T-helper 1’in artmış aktivitesi söz konusudur. Bu çalışmayı, bağışıklık temelinde, MEFV gen mutasyonlarıyla tüberküloza karşı direnç arasında olası ilişkiyi değerlendirmek üzere yaptık. Yöntem. Bu çalışma 2007-2009 yılları arasında Cumhuriyet Üniversitesi Tıp Fakültesi Göğüs Hastalıkları Anabilim Dalı’na başvuran ve fizik muayene, mikrobiyolojik ve radyolojik tetkiklerle tüberküloz tanısı alan 51 hasta (23 kadın, 28 erkek) ve 57 kişilik kontrol grubuyla (26 kadın, 31 erkek) gerçekleştirilmiştir. Her iki grupta revers hibridizasyon FMF Strip Assay (ViennaLab Labordiagnostika, Vienna, Austria) tekniği kullanılarak 12 yaygın MEFV gen mutasyonu araştırılmıştır. Bulgular. MEFV mutasyonlarının dağılımı açısından hasta ve kontrol grupları arasında önemli bir fark saptanmamıştır (p>0,05). Hasta grubunda 22 MEFV gen mutasyonu (%43,1) vardı. Homozigot mutasyon tespit edilmedi. Hasta grubundaki mutasyonların tamamı heterozigottu. Kontrol grubunda da homozigot mutasyona rastlanmazken, toplam 29 (%50,8) heterozigot mutasyona rastlandı. Sonuç. Elde edilen veriler tüberküloz hastalarında MEFV geni mutasyon sıklığının sağlıklı populasyona oranla önemli bir farklılık göstermediğini düşündürmektedir. FMF mutasyonları tüberküloza yakalanmakta değil ama hastalığın seyrinde etkili olabilir.
Anahtar sözcükler: FMF, tüberküloz, MEFV geni, mutasyon
Abstract
Aim. Mycobacterium tuberculosis infection is a critical public health problem all over the world. T-helper 1 cells play an important role in the pathogenesis of tuberculosis. There is an increased activity of T-helper 1 in Familial Mediterranean Fever (FMF) patients and carriers. Based on immunity, we undertaken this study to evaluate a possible association of MEFV gene mutations with resistance to tuberculosis. Method. This study was performed with 51 patients (23 females, 28 males) applied to Cumhuriyet University Medical Faculty Chest Diseases Department between 2007 and 2009 and diagnosed with tuberculosis by physical examination, microbiological and radiologic analysis and 57 controls (26 females, 31 males). In these groups, 12 common MEFV gene mutations were researched using revers hybridisation FMF Strip Assay (ViennaLab Labordiagnostika, Vienna, Austria) technique. Results. A significant difference was not detected between patient and control groups in terms of distribution of MEFV mutations (p>0.05). There were 22 MEFV gene mutations (%43.1) in patient group. Homozygous mutation was not detected in this group. All mutations in patient group were heterozygous. There was also no homozygous mutation in control group and total 29 (%50.8) heterozygous mutations were detected. Conclusion. Our results suggested that the mutation frequency of MEFV gene in tuberculosis patients was not significantly different from healthy population. FMF mutations may effect the survive of tuberculosis but not sicken.
Keywords: FMF, tuberculosis, MEFV gene, mutation
Anahtar Kelimeler
Kaynakça
- Jasmer RM, Seaman CB, Gonzalez LC, Kawamura LM, Osmond DH, Daley CL. Tuberculosis treatment outcomes: Directly observed therapy compared with selfadministered therapy. Respir Crit Care Med 2004; 170: 561-6.
- JoAnne L. Chan F, Chan J. Immunology of tuberculosıs Annual Review of Immunology 2001; 19: 93-129.
- Romagnani, S. The Th1/Th2 paradigm. Immunol. Today 1997; 18: 263-6.
- Shinkai K, Kilcline C, Connolly MK, Frieden IJ. The pyrin family of fever genes: Unmasking genetic determinants of autoinflammatory disease. Arch Dermatol 2005; 141: 242-7.
- Kastner DL. FMF: The genetics of inflammation. Hosp Prac 1998; 33: 131-46. Samuels J, Ozen S. Familial Mediterranean fever and the other autoinflammatory syndromes: Evaluation of the patient with recurrent fever. Curr Opin Rheumatol 2006; 18: 108-17.
- Stehlik C. The Pyrin domain in signal transduction. Curr Protein. Pept Sci 2007; 8: 293-310.
- Keles M, Eyerci N, Uyanik A, Aydinli B, Sahin GZ, Cetinkaya R, Pirim I, Polat KY. The frequency of Familial Mediterranean Fever related amyloidosis in renal waiting list for transplantation. The Eurasian Journal of Medicine 2010; 42: 19
- John J. Goats R. Are the pyrin mutations responsible for Familial Mediterranean Fever protective against Brucellosis. Medical Hypotheses 2007; 68: 3, 499-501. Onen F. Familial Mediterranean fever. Rheumatol Int 2006; 26: 489-96.
- Aypar E, Ozen S, Okur H, Kutluk T, Besbas N, Bakkaloglu A. Th1 polarization in familial Mediterranean fever. J Rheumatol 2003; 9: 2011-3.
- Simsek I, Pay S, Pekel A, Dinc A, Musabak U, Erdem H, Sengul A. Serum proinflammatory cytokines directing T helper 1 polarization in patients with familial Mediterranean fever. Rheumatol Int 2007; 9: 807-11.
- Cattan D. MEFV Mutation Carriers and Diseases Other than Familial Mediterranean Fever: Proved and Non-Proved Associations; Putative Biological Advantage Current Drug Targets-Inflammation & Allergy 2005; 4: 1.
- Ross J. Goats, germs, and fever: Are the pyrin mutations responsible for familial Mediterranean fever protective against Brucellosis? Med Hypotheses 2007; 3: 499-50
- Ozen S, Balci B, Ozkara S, Ozcan A, Yilmaz E, Besbas N, Ozguc M, Kastner DL, Bakkaloglu A. Is there a heterozygote advantage for familial Mediterranean fever carriers against tuberculosis infections: Speculations remain. Clin Exp Rheumatol 2002; 20: 57-8. van Crevel R, Ottenhoff T, van der Meer J. Innate Immunity to Mycobacterium tuberculosis Clin Microbiol Rev 2002;15: 294-309.
- Cattan D. MEFV Mutation Carriers and Diseases Other than Familial Mediterranean Fever: Proved and Non-Proved Associations; Putative Biological Advantage Current Drug Targets - Inflammation&Allergy 2005; 4: 105-112.
- Centola M, Wood G, Frucht DM, Galon J, Aringer M, Farrell C. The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Blood 2000; 95: 3223-31.
- Akcan Y, Tuncer S, Unal S, Sökmensuer C, Haznedaroglu CI, Arslan S. Familial Mediterranean fever. No role of Mycobacterium tuberculosis in ten patients. Eur J Med Res 1999; 27: 161-4.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Dahili Tıp Bilimleri Araştırma Yazıları |
| Yazarlar | |
| Yayımlanma Tarihi | 16 Şubat 2014 |
| Yayımlandığı Sayı | Yıl 2014Cilt: 36 Sayı: 3 |