Science in Action: Sonic Hedgehog and Down Syndrome

Researchers at Johns Hopkins have made great strides in dealing restoring the the growth of nerve cells in mice that are afflicted with trisomy 21.

In mouse models, the researchers (Roper et al 2006) found that a protein could restore normal growth of specific nerve cells in the cerebellum. The protein’s name is Sonic Hedgehog (Shh) and is appears to activate a pathway of signals to the nerve cells, which, in turn, stimulates mitosis and thus growth.

The implications of this are, simply put: “wow.”

It may soon be possible to reverse the effects of trisomy 21, or “Down Syndrome,” in newborns. As a father myself, I can tell you that every expecting parent fears this sort of defect. For the parents that have children with Down Syndrome (DS), it must be a difficult ordeal. Knowing some of the parents, its clear that they have as much love for their child as any parent, but it would be a true triumph of science if this leads to a treatment for newborns that would minimize or even eliminate the effects of DS. Indeed, this would be a milestone comparable to the Polio Vaccine.

Reference

Roper, R.J.; Baxter, L.L.; Saran, N.G.; Klinedinst, D.K.; Beachy, P.A.; and Reeves, R.H. (2006). Defective cerebellar response to mitogenic Hedgehog signaling in Down’s syndrome mice. PNAS, 103(5), 1452-1456.