DNA-methyltransferase 3A: A central player in AML development

Acute myeloid leukemia (AML) is frequently associated with genomic mutations in the DNA-methyltransferase 3A (DNMT3A) gene, which encodes a central modifier of the DNA-methylation pattern. Newly discovered epimutations within the same gene can mimic these mutations and are indicative for survival of AML patients. Cygenia provides analysis of the DNMT3A epimutation for physicians and scientists to gain better insight into disease development. This method is based on DNA-methylation analysis at a unique genomic region – it is therefore fast and cost effective. 




Figure 1. Epimutation in DNMT3A. About 40% of AML patients are hypermethylated at the relevant CpG site within DNMT3A, and this epimutaion is associated with shorter event-free survival.


Relevant literature

Jost E, et al. Epimutations Mimic Genomic Mutations of DNMT3A in Acute Myeloid Leukemia. Leukemia, 2014.

Patent application: 2013; EP 13167411.1