How a protein mutation causes leukaemia

Four Main classes of leukaemiaWashington, April 8 : An international team of researchers has gained fresh insight into how the mutation in a protein called C/EBPa causes leukaemia, cancer of blood or bone marrow.

For the purpose of their research, the researchers used genetic engineering to introduce the mutation into mice.

In their research paper, published in the journal Cancer Cell, the researchers report that the mutation causes acute myeloid leukaemia (AML), a type of leukaemia affecting one lineage of white blood cells, in mice.

The team—including experts from the European Molecular Biology Laboratory (EMBL) in Italy, the EMBL-European Bioinformatics Institute, UK, and the Universities of Harvard, USA, and Lund, Sweden—says that the findings have implications for the way leukaemia should be treated.

“Ten per cent of all patients suffering from AML have this mutation, but we could never be sure if it causes the disease. By precisely reproducing the human mutation in the mouse we now proved a causative relation,” says Peggy Kirstetter, who carried out the research in Claus Nerlov’s lab at EMBL.

The researchers also noted that the mutation acts on already partially differentiated cells, instead of promoting uncontrolled proliferation of malignant blood stem cells, as often assumed as the cause of leukaemia.

It reprogrammes the cells to self-renew and produce countless dysfunctional daughter cells, which displace the healthy blood cells, and ultimately lead to the inability to transport oxygen around in the body.

“This is the first time that non-stem cell myeloid leukaemia has been generated within a healthy blood system. The findings will have profound implications for our understanding of the development and treatment of leukaemias,” says Nerlov. (ANI)