Study Reveals Why People With Down Syndrome are at Higher Risk for Leukemia

Endothelial cells offer clues as to why people with Down syndrome have an increased prevalence of leukemia, revealed scientists from Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago. Endothelial cells are one of the main sources of blood production.

Over-expression of genes was observed in endothelial cells of Down syndrome patients. This creates an environment conducive to leukemia, which is characterized by uncontrolled development and growth of blood cells. The findings of the study are published in the journal Oncotarget.

Down Syndrome - Trisomy 21, Causes, Symptoms, Diagnosis, Treatment, Prognosis
Down Syndrome is a congenital disorder among children commonly born to older mothers. The condition is also known as ‘Up syndrome’ because of the cheerful persona of the Down children.

‘Down syndrome, or Trisomy 21, has genome-wide implications that place these individuals at higher risk for leukemia.’

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"We discovered an increased expression of leukemia-promoting genes and decreased expression of genes involved in reducing inflammation. These genes were not located on chromosome 21, which makes them potential therapeutic targets for leukemia even for people without Down syndrome," says co-lead author Mariana Perepitchka, BA, Research Associate at the Manne Research Institute at Lurie Children's.

What is Down Syndrome?

Down syndrome (Trisomy 21), genetic disorder involves an extra copy of chromosome 21. The condition occurs in about one in 700 babies. People with Down syndrome are at a 500-fold risk of developing acute megakaryoblastic leukemia (AMKL) and a 20-fold risk of being diagnosed with acute lymphoblastic leukemia (ALL).

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Study Details

- Skin samples from Down syndrome patients were used to create induced pluripotent stem cells (iPSC).
- The stem cells were then differentiated into endothelial cells.
- Impaired endothelial cell genetic expression produced altered endothelial function throughout the cell maturation.

Top 10 Facts on Down Syndrome
Down syndrome or trisomy 21 is a genetic disorder, in which the affected children usually have an extra chromosome 21. Here are some interesting facts on Down syndrome.

"Our discovery of leukemia-conducive gene expression in endothelial cells could open new avenues for cancer research," says co-lead author Yekaterina Galat, BS, Research Associate at the Manne Research Institute at Lurie Children's.

"Fortunately, advances in iPSC technology have provided us with an opportunity to study cell types, such as endothelial cells, that are not easily attainable from patients," says senior author Vasil Galat, PhD, Director of Human iPS and Stem Cell Core at Manne Research Institute at Lurie Children's and Research Assistant Professor of Pathology at Northwestern University Feinberg School of Medicine. "If our results are confirmed, we may have new gene targets for developing novel leukemia treatments and prevention."

Study Offers Fresh Insights into Chromosome 21 and Its Effect on Down Syndrome
In mice with Down syndrome, the specific regions of chromosome 21 cause memory and decision-making problems, said researchers.

Source-Medindia