Researchers from the Wellcome Sanger Institute have identified a new genetic target, which is linked with poor prognosis, for the potential treatment of acute myeloid leukaemia (AML) – a type of blood cancer.

The specific genetic mutation in the CUX1 gene is involved in the development of AML when combined with other mutations in mice and human cell lines, according to the researchers.

The study, published last week in Nature Communications, suggests that targeting the loss-of-function mutation in the CUX1 gene may offer a ‘new therapy avenue’ for AML patients.

In a previous analysis, using large-scale DNA sequencing, the researchers found that loss-of-functions mutations in the CUX1 gene on chromosome 7q could be observed in a number of cancer types, including AML, and is associated with poor prognosis.

The new study saw the researchers use CRISPR/Cas9 gene-editing technology to show that a lack of function CUX1 results in an expansion of certain types of blood stem cells, which are defective in apoptosis – a type of regulated cell death.

The researchers found that the loss of CUX1 causes increased expression of the CFLAR gene, which encodes a protein that restrains apoptosis, potentially allowing mutated cancer cells to evade cell death and propagate.

According to the new research, targeting CFLAR or apoptosis evasion pathways may offer a new potential treatment route for people with this type of AML.

“By investigating the role of CUX1 further, we now have new insight into how this gene, and the lack of it when mutated, plays a key role in the survival of blood cancer cells,” said Saskia Rudat, co-first author and postdoctoral fellow at the Wellcome Sanger Institute.

“While this mutation doesn’t seem to cause the development of malignant disease on its own, focusing on the pathways involved with CUX1 is a good target for further research,” she added.