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article imageLink between Down syndrome and leukemia found

By Tim Sandle     Apr 22, 2014 in Science
A link between people with Down syndrome and people at a heightened risk of developing leukemia during childhood has been uncovered through a new study harnessing advanced medical testing.
Researchers have tracked the genetic chain of events that links a chromosomal abnormality in Down syndrome to the cellular havoc that occurs in leukemia. Advances in technology have made it possible to study blood cells and leukemias that model Down syndrome in the laboratory. This has led to researchers to make the connection.
The connection was reaffirmed by carrying out studies in mice using altered stem cells. The cause of both Down syndrome and leukemia was a gene called HMGN1. Using cells from the mice with an extra copy of 31 genes, the investigators systematically switched off each of those genes to see its effect on the cells. When they turned off the gene HMGN1, the cells stopped growing and died.
The findings are relevant not only to people with Down syndrome but also to many others who develop leukemia.
Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21 (that occurs when people inherit three copies of chromosome 21 instead of the usual two). A chromosome is a single piece of coiled DNA containing many genes; the chromosome encodes most of a person’s genetic information. Leukemia is a type of cancer of the blood or bone marrow characterized by an abnormal increase of immature white blood cells called "blasts."
The research was carried out at the Dana-Farber Cancer Institute, with the findings reported to the journal Nature Genetics (“Triplication of a 21q22 region contributes to B cell transformation through HMGN1 overexpression and loss of histone H3 Lys27 trimethylation”).
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