Abnormal gene expression in amniotic fluid could play role in suggesting potential therapies
BOSTON, June 2 /PRNewswire-USNewswire/ -- A paper published in the Proceedings of the National Academy of Sciences (http://www.pnas.org/content/early/2009/05/27/0903909106) by Tufts Medical Center and
Diana Bianchi, M.D., Vice Chair for Research, Department of Pediatrics at Floating Hospital for Children at Tufts Medical Center, and Donna Slonim, Ph.D., Associate Professor of Computer Science at
Down syndrome occurs when an individual has three copies of chromosome 21 instead of two. The longstanding assumption has been that proteins produced by the additional copy of chromosome 21 were almost exclusively responsible for the atypical development and function associated with the syndrome. A surprising aspect of the findings was that the molecular abnormalities observed were predominantly produced by genes on the other chromosomes.
As a next step, researchers are examining amniotic cells to determine if they show similar genomic profiles to the cell-free material in the fluid. If that is the case, they will begin to look at the effectiveness of anti-oxidant compounds as potential treatment in vitro.
"While more research is needed, this study illuminates a possible pathway to treating some aspects of Down syndrome in the womb," Bianchi said. "While we do not know the extent to which the developing fetus is affected by oxidative stress, we know this abnormal environment is not conducive to optimal development."
The analysis relied heavily on computer analysis and bioinformatics. To support their conclusions, the researchers applied the Connectivity Map, a tool linking information about genomics and FDA-approved compounds to suggest drug therapies for various disease pathways. This approach implicated the same underlying processes, and suggests directions for future work.
|SOURCE Tufts Medical Center|
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