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Understanding Chromosome 21

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What the DYRK1A Gene Could Tell Us About Leukemia

Scientists studying leukemia could find vital answers on chromosome 21. Recently, a team from Northwestern Medicine discovered the link between a gene on the chromosome and how the cancer functions.

Chromosome 21 is considered an important avenue of research for uncovering the genetic basis of leukemia due in part to its connection to Down syndrome. Children with Down syndrome have three copies of chromosome 21 in their cells; they are also 20 times more likely to develop a type of leukemia called B-cell acute lymphoblastic leukemia.

One researcher is committed to identifying the gene on chromosome 21 responsible for this increased risk: John Crispino, PhD, who is the Robert I. Lurie, MD, and Lora S. Lurie Professor Hematology/Oncology in the Department of Medicine. Crispino, also a professor of Biochemistry and Molecular Genetics, previously discovered that a gene on chromosome 21 called DYRK1A contributes to the development of leukemia.

Currently, Crispino and a team of scientists are examining the DYRK1A gene in depth. Specifically, they’re exploring how it affects blood cell production because overproduction of certain blood cells is a hallmark of leukemia. The team created a mouse model without the DYRK1A gene and saw that two types of white blood cells, known as B and T lymphocytes, were unable to develop without the gene. The research also revealed that DYRK1A is responsible for regulating the cell cycle in those two types of cells.

Generally, people with B-cell acute lymphoblastic leukemia show increased levels of DYRK1A. Likewise, children with Down syndrome produce more DYRK1A because of the extra chromosome 21s, perhaps explaining why they are more likely to contract the cancer. According to Crispino, this means the results of the mouse model suggest that targeting DYRK1A could be a new form of therapy for this type of leukemia.

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