Why Do Children with Down Syndrome Have a Higher Risk of Leukemia?

A new study by researchers from the University of Copenhagen and Stanford University sheds light on why children with Down syndrome face an increased risk of leukemia. By analyzing changes in blood cells, the study reveals genetic and cellular mechanisms that contribute to this elevated risk.

Children born with Down syndrome, a genetic condition caused by an extra copy of chromosome 21, are known to have a significantly higher likelihood of developing leukemia—150 times more than children without the condition. The study, published in Nature, offers insights into how this extra chromosome impacts blood cell function and the development of leukemia.

What’s New?

Researchers conducted a comprehensive analysis of over 1.1 million fetal cells from individuals with and without Down syndrome. The study identified key genetic dysregulations, particularly in blood stem cells, which lead to abnormal red blood cell production in newborns with Down syndrome. These irregularities contribute to their higher risk of leukemia.

Another crucial finding was the discovery of excess mitochondria in the blood stem cells of individuals with Down syndrome. While mitochondria are necessary for energy production, an overabundance can generate harmful molecules, known as reactive oxygen species. These molecules can damage DNA, potentially leading to pre-leukemia and, eventually, full-blown leukemia.

Why It Matters

Understanding the link between Down syndrome and leukemia is essential for improving future research in stem cell biology and cancer. This study, the largest of its kind, emphasizes the importance of considering both genetic and cellular environments when examining disease development. By mapping the unique cellular changes in individuals with Down syndrome, scientists can better understand the pathways that lead to leukemia, potentially guiding new strategies for prevention and treatment.

These findings could ultimately improve care for those with Down syndrome, helping to mitigate their elevated cancer risk and offering a path toward more targeted therapies.