High risk of leukemia in Down syndrome due to the RUNX1 gene

EA research team at the Frankfurt University Medical Center has found the reason why children with trisomy 21 have a greatly increased risk of developing leukemia. The working group led by Jan-Henning Klusmann examined chromosome 21, which occurs in people with the so-called Down syndrom exists three times.

Using CRISPR-Cas9 gene scissors the scientists checked for their study each of the 218 genes on this chromosome for its cancer-promoting effects. They found that a specific expression of the gene RUNX1 is responsible for the development of acute myeloid leukemia responsible for. Other variants of the gene, however, prevented the degeneration of cells. “That explains why RUNX1 has not been noticed in several decades of intensive cancer research,” says Klusmann.

Disease course blocked with active ingredients

RUNX1 codes for a so-called transcription factor, a protein that controls the activity of other genes. In this case, it regulates blood formation, among other things. According to Klusmann, biochemical studies have determined how the discovered gene variant changes the blood cells. “We were then able to use specific substances that block the disease mechanism.” Now the goal is to develop new therapies based on these findings, according to the director of the clinic for child and adolescent medicine at the Frankfurt University Hospital. However, it will “certainly be a few more years” before the new treatments are ready for clinical use.

According to the Goethe University, Down syndrome is the most common congenital genetic disease; about one in 700 newborns is affected. In the first four years of life children would come with them trisomy 21 a 100-fold increased risk of developing acute myeloid leukemia.