Objective: Familial Mediterranean Fever (FMF) is characterized by inflammation attacks, abdominal and articular pain, fatigue and fever manifestations lasting between 12 and 96 hours. The ethiology and origin of FMF is unknown. In pathogenesis, there is a mutation in MEFV gene located at the short arm of the 16th chromosome. It has been found that a protein encoded by MEFV gene is effective against inflammatory reactions. Nitric oxide is an inflammatory mediator which involves in many reaction processes. In this study, we aimed to investigate if inducible nitric oxide synthase (iNOS) has undergone a polymorphism and whether there is a relation between a possible polymorphism and plasma nitric oxide levels. Materials and Methods: A total of 60 patients and 30 healthy individuals were included in this study. FMF patients were seperated into three groups according to MEFV gene mutation analysis. Furthermore, all participants were classified as having iNOS CC, CT or TT gene polymorphism types. In order to determine the MEFV gene mutations, FMF gene sequences were proliferated via using multiplex polymerase chain reactin method. Mutations were analyzed by using reverse in situ hybridization method. iNOS gene polymorphism was determined by PCR-RFLP method. Blood samples were collected from whole participants and plasma were seperated to measure nitric oxide levels. Obtained biochemical and genetic data were statistically analyzed. Results: In FMF group, the MEFV gene mutation rates were as follows: M694V homozygote (n=14; 23,33 %), M694V heterozygote (n=10; 16,67 %), M694V compound heterozygote (n=12; 20 %), other compound heterozygote (n=3; % 5) and other heterozygote (n=21; 35 %). There was no significant difference between the FMF group and controls by means of iNOS CC (p = 0,2917), CT (p = 0,5080) and TT (p = 0,5130) gene polymorphisms. Also, there was no statistically significant difference between the groups by means of plasma nitric oxide levels (p = 0,6434). Conclusion: As a result, it can be councluded that there is no prominent change in plasma nitric oxide levels in FMF patients when compared with normal individuals and also there is no difference between the groups by means of INOS gene polymorphism.
Tez (Uzmanlık)- Süleyman Demirel Üniversitesi, Tıp Fakültesi, Tıbbi Biyokimya Anabilim Dalı, 2011.
Kaynakça var.
Objective: Familial Mediterranean Fever (FMF) is characterized by inflammation attacks, abdominal and articular pain, fatigue and fever manifestations lasting between 12 and 96 hours. The ethiology and origin of FMF is unknown. In pathogenesis, there is a mutation in MEFV gene located at the short arm of the 16th chromosome. It has been found that a protein encoded by MEFV gene is effective against inflammatory reactions. Nitric oxide is an inflammatory mediator which involves in many reaction processes. In this study, we aimed to investigate if inducible nitric oxide synthase (iNOS) has undergone a polymorphism and whether there is a relation between a possible polymorphism and plasma nitric oxide levels. Materials and Methods: A total of 60 patients and 30 healthy individuals were included in this study. FMF patients were seperated into three groups according to MEFV gene mutation analysis. Furthermore, all participants were classified as having iNOS CC, CT or TT gene polymorphism types. In order to determine the MEFV gene mutations, FMF gene sequences were proliferated via using multiplex polymerase chain reactin method. Mutations were analyzed by using reverse in situ hybridization method. iNOS gene polymorphism was determined by PCR-RFLP method. Blood samples were collected from whole participants and plasma were seperated to measure nitric oxide levels. Obtained biochemical and genetic data were statistically analyzed. Results: In FMF group, the MEFV gene mutation rates were as follows: M694V homozygote (n=14; 23,33 %), M694V heterozygote (n=10; 16,67 %), M694V compound heterozygote (n=12; 20 %), other compound heterozygote (n=3; % 5) and other heterozygote (n=21; 35 %). There was no significant difference between the FMF group and controls by means of iNOS CC (p = 0,2917), CT (p = 0,5080) and TT (p = 0,5130) gene polymorphisms. Also, there was no statistically significant difference between the groups by means of plasma nitric oxide levels (p = 0,6434). Conclusion: As a result, it can be councluded that there is no prominent change in plasma nitric oxide levels in FMF patients when compared with normal individuals and also there is no difference between the groups by means of INOS gene polymorphism.