MEFV gen mutasyonlarının tüberküloza direnç ile olası ilişkisi
MEFV gen mutasyonlarının tüberküloza direnç ile olası ilişkisi
Yazar: Yıldırım, Malik; Yıldırım, Dilara; Arslan, Sulhattin; Küçük Kurtulgan, Hande
Dergi: Cumhuriyet Tıp Dergisi, Vol. 36 No. 3, 2014
Anahtar kelimeler: FMF, tuberculosis, MEFV gene, mutation ; FMF, tüberküloz, MEFV geni, mutasyon

ÖzetAmaç. 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 AbstractAim. 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

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.