Investigation of SMAD3 and SMAD4 genes expression in CML patients and K562 cell line and association with chronic myeloid leukemia

Aim and Background: Chronic myeloid leukemia (CML) is a clonal myeloproliferative disorder with cytogenetic characterization of the abnormal Philadelphia chromosome. This chromosome results from a reciprocal translocation between chromosomes 9 and 22. This is an important signaling pathway in the process of cancer cell proliferation and apoptosis, as well as the pathogenesis of TGF-β disease, in which the absence of gene expression regulation of its components, such as the SMAD family, plays a major role in tumor growth and cancer development. Therefore, the expression of genes SMAD3 and SMAD4 in CML patients and the K562 cell line was compared to the control group in this study, so that their involvement in the disease could be understood and exploited in therapeutic purposes. Materials and methods: In this descriptive study, the expression of genes SMAD3 and SMAD4 was measured by Real Time PCR technique and cDNA synthesis, and GraphPad prism software version 9.3.1 was used to analyze the data collected. Results: In the CML patients and also K562 cell line, SMAD3 gene expression was significantly reduced, while SMAD4 gene expression had no significant relationship with the disease (p <0.05). Conclusion: The expression of specific genes in the signaling pathway, according to this study, can play an effective role in the development of disease or drug resistance. Decreased SMAD3 expression in CML could indicate a relationship between disease and altered gene expression. Therefore, further investigations are needed in order to identify the accurate mechanism of these alterations and their association with the disease.