Research uncovers Down's Syndrome link to rare leukemia

People with Down Syndrome (DS) have traditionally been recognized as having an increased risk of developing leukemia, specifically either acute megakaryoblastic leukemia (AMKL) or acute lymphoblastic leukemia (ALL). Until now, no one could say why but researchers from Northwestern University think they may have the answer to at least the increased risk of AMKL.

In Down Syndrome, a person has an extra chromosome: instead of having 2 copies of chromosome 21, they have three. Researchers hypothesezid that the increased risk of AMKL must exist somewhere on that extra chromosome, and they believe that they have found it in the increased expression of the protein templated by the chromosome 21 gene DYRK1A, which causes AMKL to develop in mice models of Down Syndrome.

Researchers were able to inhibit the activity of the DYRK1A gene in the lab, preventing the development of AMKL cells lines. Thus an inhibitors of DYRK1A activity could be a potentially very effective therapeutic response to DS patients with AMKL.

Source: Medical News Today