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 Blast Zone

Imbalance in proportion of protein Runx1 encoded on the extra chromosome 21 underlies development of myeloid leukaemia in people with Down syndrome

03 April 2023

Blast Zone

An aggressive blood cancer, acute myeloid leukaemia (AML) occurs when abnormal developing white blood cells, known as blasts, start to multiply rapidly, filling up the bone marrow and disrupting the development of other blood cells. Pictured here are blasts (in purple) surrounded by red blood cells, from the bone marrow of a patient with Down syndrome; children with Down’s, a genetic condition caused by carrying a third copy of chromosome 21, are at much greater risk of developing AML. To understand why, researchers used gene editing tools to investigate all 218 genes on this extra chromosome. They homed in on RUNX1, which encodes a transcription factor, a protein that regulates other genes. RUNX1 can be expressed in several forms, and balance between them is key: these recent experiments suggest that AML is linked to an excess of a form called RUNX1A, opening up new avenues for research into potential treatments.

Written by Emmanuelle Briolat

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