1,2Alaa Elmazny, 3Dalia Abdel Wahab Mohamed, 2Heba Selim, 2Ali Genena, 3Mai Mohamed Nabil, 2Nevin Mohieldin, 2Hatem Shehata

1Arabian Gulf University, Manama, Bahrain; 2Cairo University, Cairo, Egypt; 3Ain Shams University, Cairo, Egypt

Background:

Emerging evidence suggests that dysregulated apoptosis might be implicated in the pathogenesis of multiple sclerosis (MS). In this study we evaluated the expression of miR-484 and its potential target gene Apoptotic protease activating factor-1 (APAF-1) in relapsing remitting MS patients (RRMS), correlated their expression levels to patients’ clinical characteristics and investigated their role as potential disease biomarkers.

Material(s) and Method(s):

After Bioinformatic analysis was conducted and revealed that APAF-1 is a potential target gene for miR-484. Reverse Transcription-quantitative Real-Time PCR (RT-qPCR) was performed to detect the expression levels of miR-484 and APAF-1 in the peripheral blood mononuclear cells (PBMCs) of 34 RRMS patients and 34 healthy controls.

Result(s):

miR-484 expression was significantly upregulated in patients whereas APAF-1 mRNA was downregulated compared to controls (p < 0.01). APAF-1 mRNA expression was found to be significantly higher in treated patients (median RQ 1.2) compared to those who were not on treatment (median RQ 0.9) (P=0.02). Sensitivity and specificity of miR-484 and APAF-1 to diagnose MS were (88.2%, 86.7%) and (83.3% and 82.4%) respectively.

Conclusion(s):

APAF-1 and miR-484 could play a role as promising therapeutic targets and potential diagnostic biomarkers.