# Effect of DNMT3A R882H Hot Spot Mutations on DDX43 Promoter Methylation in Acute Myeloid Leukemia

## TL;DR

This study explores how a specific mutation in the DNMT3A gene affects methylation of the DDX43 gene promoter in acute myeloid leukemia patients.

## Contribution

The study identifies a link between the DNMT3A R882H mutation and reduced DDX43 promoter methylation in a subset of AML patients.

## Key findings

- The R882H mutation in DNMT3A was found in 10.6% of AML patients.
- DDX43 gene methylation was significantly higher in patients without the R882H mutation.
- The R882H mutation is associated with reduced methylation in the DDX43 promoter region.

## Abstract

Epigenetic alterations have been observed in many hematological malignancies, including acute myeloid leukemia (AML). Many of these alterations result from mutations in DNA methyl transferase (DNMT) enzymes, disabling them to methylate target genes in a proper way. In this case-control study, we investigated the association between R882H mutation in DNMT3A gene and DDX43 gene methylation in patients with AML. 47 AML patients and 6 controls were included in this study. After DNA extraction, amplification refractory mutation system (ARMS)-PCR was used to evaluate R882H mutations in DNMT3A gene. The high-resolution melting (HRM) method was used to determine the methylation changes of the DDX43 gene promoter. R882H mutation was only found in 10.6% (5 out of 47) of AML patients. The frequency of DDX43 gene methylation was significantly higher in patients without R882H mutations compared to patients with R882H mutations (P < 0.05). The DNMT3A R882H mutation is typically present in a minority of AML patients. Nevertheless, this mutation is associated with a reduced frequency of methylation in the DDX43 promoter region.