Sulhattin ARSLAN, Malik Ejder YILDIRIM, Hande KURTULGAN KÜÇÜK, Dilara YILDIRIM

MEFV gen mutasyonlarının tüberküloza direnç ile olası ilişkisi

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 1in artmış aktivitesi söz konusudur. Bu çalışmayı,bağışıklık temelinde, MEFV gen mutasyonlarıyla tüberküloza karşı direnç arasında olası ilişkiyideğerlendirmek üzere yaptık. Yöntem. Bu çalışma 2007-2009 yılları arasında CumhuriyetÜniversitesi Tıp Fakültesi Göğüs Hastalıkları Anabilim Dalına başvuran ve fizik muayene,mikrobiyolojik ve radyolojik tetkiklerle tüberküloz tanısı alan 51 hasta (23 kadın, 28 erkek) ve 57kişilik kontrol grubuyla (26 kadın, 31 erkek) gerçekleştirilmiştir. Her iki grupta revershibridizasyon FMF Strip Assay (ViennaLab Labordiagnostika, Vienna, Austria) tekniğikullanılarak 12 yaygın MEFV gen mutasyonu araştırılmıştır. Bulgular. MEFV mutasyonlarınındağılımı 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 homozigotmutasyona rastlanmazken, toplam 29 (%50,8) heterozigot mutasyona rastlandı. Sonuç. Elde edilenveriler tüberküloz hastalarında MEFV geni mutasyon sıklığının sağlıklı populasyona oranla önemlibir farklılık göstermediğini düşündürmektedir. FMF mutasyonları tüberküloza yakalanmakta değilama hastalığın seyrinde etkili olabilir.

A possible association of MEFV gene mutations with resistance to tuberculosis

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 increasedactivity of T-helper 1 in Familial Mediterranean Fever (FMF) patients and carriers. Based onimmunity, we undertaken this study to evaluate a possible association of MEFV gene mutationswith resistance to tuberculosis. Method. This study was performed with 51 patients (23 females,28 males) applied to Cumhuriyet University Medical Faculty Chest Diseases Department between2007 and 2009 and diagnosed with tuberculosis by physical examination, microbiological andradiologic analysis and 57 controls (26 females, 31 males). In these groups, 12 common MEFVgene mutations were researched using revers hybridisation FMF Strip Assay (ViennaLabLabordiagnostika, Vienna, Austria) technique. Results. A significant difference was not detectedbetween patient and control groups in terms of distribution of MEFV mutations (p>0.05). Therewere 22 MEFV gene mutations (43.1%) in patient group. Homozygous mutation was not detectedin this group. All mutations in patient group were heterozygous. There was also no homozygousmutation in control group and total 29 (50.8%) heterozygous mutations were detected.Conclusion. Our results suggested that the mutation frequency of MEFV gene in tuberculosispatients was not significantly different from healthy population. FMF mutations may effect thesurvive of tuberculosis but not sicken.

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