Methylation and Expression Status of The CpG-Island of SMG1 Promoter in Acute Myeloid Leukemia: A Follow-Up Study in Patients

Document Type : Original Article


1 Department of Medicine Biotechnology, Faculty of Allied Medicine, Qazvin University of Medical Science, Qazvin, Iran

2 Department of Medical Laboratory Sciences, Faculty of Allied Medicine, Qazvin University of Medical Sciences, Qazvin, Iran

3 Hematology-Oncology and Stem Cell Transplantation Research Center, Shariati Hospital of Tehran, Tehran, Iran

4 Department of Immunology, Pasteur Institute of Iran, Tehran, Iran

5 Metabolic Diseases Research Center, Research Institute for Prevention of Non-Communicable Diseases, Qazvin University of Medical Sciences, Qazvin, Iran

6 Department of Immunology, Tarbiat Modares University, Tehran, Iran

7 Faculty of Allied Medicine, Qazvin University of Medical Sciences, Qazvin, Iran


Objective: Aberrant alterations in DNA methylation are known as one of the hallmarks of oncogenesis and play a vital 
role in the progression of acute myeloid leukemia (AML). SMG1 is a member of the Phosphoinositide 3-kinases family, 
acting as a tumor suppressor gene. The aim of this study was the evaluation of the expression level and methylation 
status of SMG1 in AML. 
Materials and Methods: In this follow-up study on AML patients admitted to Shariati Hospital, Tehran, Iran, the methylation status of SMG1 [performed by methylation-specific polymerase chain reaction (PCR)] and its expression 
level (performed by qRT-PCR) were evaluated in three phases: newly diagnosed, under treatment and complete remission. The correlation of the methylation status of SMG1, its expression level, and clinical/paraclinical data was 
analyzed by SPSS ver.25. 
Results: This study on 18 patients and five control individuals showed that the CpG-islands of the SMG1 promoter 
in newly diagnosed cases is hypomethylated compared to the normal group (P=0.002) The fold change of SMG1 expression levels in new cases is 0.464 ± 0.468, while the fold change of SMG1 expression levels in under-treatment and in-remission patients is 0.973 ± 1.159 and 0.685 ± 0.885, respectively. In under-treatment patients, white blood cell (WBC) count decreases 114176.36 cell/µl with each unit of increase in fold change of SMG1 (P<0.0001), and Hb unit increases 2.062 g/dl with each unit of increase in fold change (P<0.0001) Also, in the remission phase, the Hb unit increases 1.395 g/dl with each unit increase in fold change (P=0.019). 
Conclusion: The robust results of our study suggest that the methylation and expression of have a high impact on the pathogenesis of AML. Also, the methylation and expression of SMG1 can play a prognostic role in AML.


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