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Researchers Discover The Existing Link Between Down Syndrome and Leukemia

Update Date: Apr 21, 2014 09:17 AM EDT

Doctors have long known that people with Down syndrome have an increased risk of developing acute lymphoblastic leukemia (ALL) during childhood. However they were yet to explain the relation. Now, a team of researchers has uncovered a connection between the two condition. 

In the study researchers tracked the genetic chain of events linking a chromosomal abnormality in Down syndrome to the cellular havoc occurring in ALL. Researchers said the findings were relevant not only to people with Down syndrome but also to many others who developed ALL. 

"For 80 years, it hasn't been clear why children with Down syndrome face a sharply elevated risk of ALL," said the study's lead author, Andrew Lane, MD, PhD, of Dana-Farber's Division of Hematologic Neoplasia, in the press release. "Advances in technology - which make it possible to study blood cells and leukemias that model Down syndrome in the laboratory - have enabled us to make that link."

The research found that people with Down syndrome have an increased risk for a variety of health problems such as heart defects, respiratory and hearing difficulties and thyroid conditions. 

According to the study, the syndrome occurred in people who had an extra copy of a single chromosome, also known as chromosome 21. 

Specifically, the most common form of disease is called as B cell ALL or B-ALL. "B-ALL occurs when the body produces too many immature B cells, which are a type of white blood cell that normally fights infections," Lane explained. "When we tested the mice's B cells in the laboratory, we found they were abnormal and grew uncontrollably - just as B cells from B-ALL patients do."

The findings of the research has been published in the journal Nature Genetics. 

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