DYRK1A in Down syndrome: An oncogene or tumor suppressor?

Yehudit Birger, Shai Izraeli*

*Corresponding author for this work

Research output: Contribution to journalComment/debate


Children with Down syndrome (DS) have a markedly increased risk of developing acute megakaryoblastic leukemia (AMKL) and acute lymphoblastic leukemia compared with that of children without DS. Despite recent breakthroughs, it is not clear which genes on chromosome 21, the chromosome that is trisomic in individuals with DS, cause this predisposition. In this issue of the JCI, Malinge et al. report their loss- and gain-of-function experiments in mouse and human cells that show that increased expression of the kinase encoded by the chromosome 21 gene DYRK1A suppresses the nuclear factor of activated T cells pathway and promotes AMKL. Interestingly, the same protein has been suggested to contribute to the reduced risk of epithelial cancers in adults with DS, leading to the possibility that it could be proleukemic in children and antitumorigenic in adults.

Original languageEnglish
Pages (from-to)807-810
Number of pages4
JournalJournal of Clinical Investigation
Issue number3
StatePublished - 1 Mar 2012


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