Methylenetetrahydrofolate reductase levels and gene expression in leukemia

Leukemia is a neoplastic disease that affects the proliferation of white blood cells and their progenitors. Folic acid deficiency is well-known as a risk factor for leukemia. Methylenetetrahydrofolate reductase (MTHFR) enzyme functions in the folate metabolism route, DNA synthesis and methylation processes. Numerous research has been conducted to investigate the link between MTHFR and several human illnesses, including cancer, cardiovascular disease, psychiatric disorders and neurological issues. The current study aimed to examine MTHFR levels and gene expression in patients with leukemia. The research was carried out between February and October of 2022. There were 130 subjects in total, 80 with leukemia, 45 with AML (Female = 16, Male = 26) with a mean age of (32.32±2.69), and 35 with ALL (Female = 16, Male = 19) with a mean age of (35.794±0.63). The study included 50 healthy subjects as a healthy control group (Female = 28, Male = 22), with an average age of (41.8±1.57) years. MTHFR and Folic acid were measured using ELISA, while MTHFR mRNA was assessed using qPCR in blood and plasma. Folic acid and MTHFR levels were found to be lower in patients with AML and ALL compared to controls (p <0.01). MTHFR gene expression was found to be downregulated in leukemia patients (p <0.01).

The findings of the study give support for future research into the effect of folic acid level and supplementation on leukemia-associated pathological outcomes. Folic acid deficiency may affect the folate mediate-one carbon metabolism pathway, as evidenced by changes in the expression of the mRNA MTHFR gene. As a result, more research into the effects of folate status and folic acid supplementation on leukemia is needed to investigate potential therapeutic strategies.