A British-led study of myelodysplastic syndrome (MDS) has discovered a key gene mutation that leads to the progression of disease.
Researchers at the University of Birmingham set out to create a new cellular model of the disease, transforming cells from a patient into induced pluripotent stem cells (iPSCs).
This led the team to showing a mutation in the CEBPA gene was linked to progression of MDS to acute myeloid leukaemia (AML). The findings have been reported in Nature Communications.
The researchers found that the genetic mutation made the disease more aggressive, reducing the number of healthy cells and blocking the formation of white blood cells. testing chemotherapy on cells in the lab showed it to be unsuccessful in blocking the rapid division of aberrant cells.
Professor Constanze Bonifer, Emeritus Professor at University of Birmingham, said: “To show that this was true, we did not only study the behaviour of the in vitro generated cells but also looked at how every gene in the cell population changed its activity.
“The experiments revealed that adding the CEBPA mutation to the mix of mutations that were already there alters how DNA is organised in blood cells, which completely changed gene activity and pushed the cells on the path to malignancy.”
Study leader Dr Paloma Garcia said: “Using iPSC cells to model disease processes is a new and exciting way of understanding how blood cancers develop and will significantly expedite our ability to find novel treatments.
“The confirmation that the mutation of the CEBPA gene plays such an important role in disease progression presents a significant step towards new ways to treat and diagnose MDS and avoid more serious conditions.”
Source:
Almaghrabi R, Alyahyawi Y, Keane P, Mian SA, Habel K, Atkinson A, Ward C, Bayley R, Sargas C, Menendez P, Murphy GJ, Sobahy T, Baghdadi MA, Flemban AF, Kabrah SM, Torres-Ruiz R, Papapetrou EP, Akerman I, Raghavan M, Barragan E, Bonnet D, Bonifer C, Garcia P. (2025) “A heterozygous CEBPA mutation disrupting the bZIP domain in a RUNX1 and SRSF2 mutational background causes MDS disease progression.” Nature Communications, 1 July 2025, doi: 10.1038/s41467-025-60192-8.
Link: https://www.nature.com/articles/s41467-025-60192-8
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