Reacción a "Reaction: gene responsible for heart malformations in people with Down syndrome identified"

This study is from a well-respected group of scientists who have long studied congenital heart disease (CHD) in mouse models of Down syndrome, and the gene that their study identifies as a driver of CHD, DYRK1A, has been implicated in other studies to impact other systems in Down Syndrome (DS). Hence, DYRK1A is almost certainly a very important, dosage-sensitive gene. This study shows that an inhibitor of DYRK1A given to a mother mouse very early in pregnancy reduces heart defects in offspring. However, it is important to realize the drug is given before the heart develops, very early in pregnancy. Human heart development occurs in the first ~8 weeks of pregnancy, before early screening for Trisomy 21  (~10 weeks). Hence, treatment of the pregnant mouse in this study provides more evidence of DYRK1A involvement, but I don’t think this was intended to show potential efficacy of this drug to prevent human CHD.     

I did not scrutinize the paper for the specific results, but based on this and other studies, I believe DYRK1A is important to DS phenotypes.