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Overactive Gene Linked to Heart Defects in Down Syndrome

Researchers from the Francis Crick Institute and University College London have linked the gene Dyrk1a on human chromosome 21 to heart defects in Down syndrome individuals. They revealed the gene caused heart defects when found in three copies in mice. The scientists suggested potential treatments targeting the gene would need to be operational before eight weeks post-fertilization, when the heart begins to form. They are testing suitable options and looking into other genes that could be involved in heart defect development.

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