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Researchers from the University of Oxford, together with colleagues from Hannover Medical School and the Martin Luther University of Halle-Wittenberg, have discovered the specific gene mutations required for the development of the leukemia in children with Down syndrome. Children with Down syndrome have a 150-fold increased risk of myeloid leukemia. Although some of the genetic causes of this syndrome have already been established, it is the first study to identify a wide range of mutations and their functional interaction to lead to leukemia. . The study was published today in the journal Cancer cell.
We already knew that 30% of babies born with Down syndrome had acquired a change in a gene called GATA1 in their blood cells. This is not a genetic inherited change, but a change that occurs and will remain solely in the baby's blood cells. The abnormality of the GATA1 gene can be detected by a simple blood test at birth. Babies with an impaired GATA1 gene have a predisposition to develop leukemia, and we often call this a "myeloid preleukemia".
Author of the study, Prof. Paresh Vyas, of the Institute of Molecular Medicine Weatherall MRC of the Department of Medicine Radcliffe, University of Oxford
Of the 30% of children with Down syndrome who have "myeloid preleukemia", only 10% of them will develop myeloid leukemia (3% of all children with Down syndrome). Until now, it was not clear why only some children with the GATA1 mutation progressed to complete leukemia, while others did not.
90% of babies with Down syndrome do not develop a preleukemia. But until now, we had not understood why some babies had developed leukemia, "says Vyas, who is also a group leader at the MRC's molecular hematology unit. & # 39; To answer this question, we have carefully characterized the mutations in the genes required for the development of leukemia. We have found that additional genetic modifications are required in the altered blood cells of GATA1 and that these additional modifications transform the pre-leukemic blood cells into leukemic blood cells. & # 39; In total, 43 different altered genes were found.
The discovery of the specific genetic modifications necessary for the development of leukemia has practical implications. Although children with Down syndrome are currently being screened for the GATA1 mutation at birth, it may also be possible in the future to look for other mutations as well. "This would mean we could identify the 10% of children who will develop leukemia faster and easier, and rebadure 90% of families whose children will not develop leukemia," says Vyas. "The identification of these genetic modifications can also mean that we can develop and test new treatments specifically targeting the genetic changes we now know are necessary for leukemia – and thus develop more targeted treatments with less side effects. "
Current treatments for children with Down's Syndrome Leukemia are already highly successful and, as a result of this research, another potential drug therapy has been discovered. The drug Ruxolitinib, which is currently used to treat certain blood diseases, could possibly be used to treat some of the specific genetic mutations discovered in the study. Clinical trials of the drug are a possibility for the future.
"The recent identification of a group of leukemia-related genes in children with Down syndrome is an important first step toward developing early diagnosis tests and identifying treatments." effective to help these patients, "says Dr. Mariana Delfino-Machin, head of the Medical Research Council Program (MRC). "The MRC is proud to support the research being undertaken within the MRC's Molecular Hematology Unit, of which this preliminary study is an excellent example."
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