Gene Mutation Reprograms Blood Stem Cells in Leukemia

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A new breakthrough study out last week described the discovery of a mutation in a gene in blood cells that is associated with causing abnormal blood cell counts in patients with acute myeloid leukemia (AML).

Acute myeloid leukemia is still plagued by a very low survival rates, and improved treatment options are increasingly needed.

The study, published in Cell Reports (2015; doi:10.1016/j.celrep.2015.06.069) by Professors Peter Cockerill, PhD, and Constanze Bonifer, PhD, both of the University of Birmingham, described mutations in the FLT3 gene that cause abnormal red blood cell production.

FLT3, located in the cell membrane, is responsible for expressing a receptor tyrosine kinase. Mutations in the gene account for 25% of AML malignancies.

The authors found that the mutated FLT3 protein used one specific signaling pathway, connected to two MAP kinase transcription factors, AP-1 and RUNX1, inside the cell to activate a significant number of DNA targets, leading to the abnormal activation of more than 100 genes in patients with the mutation.

This growth factor dependence is the first time that a genetic link has been described that has direct effects on reprogramming of blood stem cells from a “healthy” to a “diseased” state, and, though only preliminary, it presents new hope for advancing new treatments for AML.

Read the paper here.

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