Apoptosis, reactive oxygen species and DNA damage in Familial Mediterranean Fever patients

Abstract Background Assessment of apoptosis by flow cytometry assay and expression of apoptosis-related genes by quantitative Real-Time PCR has been suggested for predicting the patient response to therapeutic regimes of Familial Mediterranean Fever (FMF), as well as patient's survival. Therefore, the main objective of this study was to investigate the association of ROS generation on changes in apoptosis levels and expression of apoptosis related genes (Bcl2, Bax and Caspase-2) in FMF patients to get general profiling of this disease to use the most appropriate therapeutic strategy. Material and methods The study includes 40 Egyptian patients who were diagnosed with FMF according to Tel-Hashomer criteria. Blood samples of healthy controls were collected from 40 volunteers. Mutational analysis has been performed to confirm the inheritance of FMF. The collected samples of FMF patients and healthy controls were used to investigate the apoptosis rate, mRNA of apoptosis related genes (Bcl2, Bax and Caspase-2), reactive oxygen species (ROS) and DNA damage. Results We found significant increase in apoptosis rates and elevated expression levels of apoptosis related genes in FMF patients. Moreover, the mean values of intracellular ROS generation and DNA damage in blood cells of FMF patients were significantly higher than in the control cohorts. Conclusion The ROS production could be involved in oxidative modification of cellular DNA, modulation of apoptotic gene expression, and promoting cell death in FMF patients.