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Published on: December 1, 2023
Apoptotic protease activating factor-1 gene and MicroRNA-484: A possible interplay in relapsing remitting multiple
Dalia Abdel Wahab Mohamed1, Heba M Selim2, Alaa Elmazny3
1Medical Biochemistry Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Background:
Emerging evidence suggests that dysregulated apoptosis might be implicated in the pathogenesis of multiple sclerosis (MS). The aim of the current study was to evaluate the expression of Apoptotic protease activating factor-1 (APAF1) mRNA and its potential regulator miR-484 in relapsing remitting MS patients (RRMS) and to investigate their role as potential disease biomarkers.
Methods:
After Bioinformatic analysis was conducted and revealed miR-484 involvement in the regulation of APAF-1 gene expression. Reverse Transcription-quantitative Real-Time PCR (RT-qPCR) was performed to detect the expression levels of APAF-1 and miR-484 in the peripheral blood mononuclear cells (PBMCs) of 34 RRMS patients recruited from the MS clinic of kasr al ainy hospital- faculty of medicine-Egypt and 34 healthy controls.
Results:
APAF-1 mRNA was significantly downregulated in patients whereas miR-484 expression was upregulated compared to controls (p < 0.01). Sensitivity and specificity of APAF-1 and miR-484 to diagnose MS was (85.3%, 76.5%) and (88.2% and 86.7%) respectively.
Conclusion:
APAF-1 and miR-484 could play a role as potential MS diagnostic biomarkers. However, absence of a control group of patients with other inflammatory diseases in our study warrants further research to corroborate our findings.
Insights
Apoptotic protease activating factor-1 (APAF-1) mRNA is downregulated, while miR-484 is upregulated in relapsing remitting multiple sclerosis (RRMS) patients. These molecules show potential as diagnostic biomarkers for MS.
Area of Science:
- Neuroimmunology
- Molecular Biology
- Biomarker Discovery
Background:
- Dysregulated apoptosis is implicated in multiple sclerosis (MS) pathogenesis.
- Investigating Apoptotic protease activating factor-1 (APAF-1) and miR-484 in MS offers insights into disease mechanisms.
Purpose of the Study:
- To evaluate APAF-1 mRNA and miR-484 expression in relapsing remitting MS (RRMS) patients.
- To assess the potential of APAF-1 and miR-484 as diagnostic biomarkers for MS.
Main Methods:
- Bioinformatic analysis identified miR-484's regulatory role in APAF-1 gene expression.
- Reverse Transcription-quantitative Real-Time PCR (RT-qPCR) measured APAF-1 and miR-484 levels in peripheral blood mononuclear cells (PBMCs).
- Study included 34 RRMS patients and 34 healthy controls.
Main Results:
- APAF-1 mRNA was significantly downregulated in RRMS patients compared to controls (p < 0.01).
- miR-484 expression was significantly upregulated in RRMS patients compared to controls (p < 0.01).
- APAF-1 and miR-484 demonstrated high diagnostic potential with sensitivities and specificities ranging from 76.5% to 88.2%.
Conclusions:
- APAF-1 and miR-484 may serve as valuable diagnostic biomarkers for MS.
- Further research is needed to confirm these findings, particularly with control groups of patients suffering from other inflammatory diseases.

