New Down Syndrome Theory Emerges

FRIDAY March 26, 2010 -- New research suggests that missing proteins in the brain -- not too many genes or proteins, as previously thought -- may explain symptoms of Down syndrome.

Researchers found that both humans and mice with Down syndrome have lower levels of specific protein in the brain than those who don't have the condition. But an experimental drug returned the protein levels to normal in mouse brains.

"We're talking about a paradigm-shifting idea that maybe we should look for underexpressed proteins and not overexpressed proteins in Down syndrome," study senior author Terry Elton, a professor of pharmacology at Ohio State University, said in a statement. "What this offers to the Down syndrome community is the potential for at least five new therapeutic targets to pursue."

An estimated 13 out of every 10,000 babies born in the United States has Down syndrome. Those with the condition can develop cognitive problems, difficulty with physical coordination and delayed language development. Many are also born with congenital heart defects.

With the experimental drug, "we showed that we can fix the protein abnormality in mice that model Down syndrome. But we can't undo the pathology that has already occurred," Elton said. "It's a starting point, but it appears that we have new therapeutic targets to consider."

The study was recently published in the Journal of Biological Chemistry.

More information

The U.S. National Library of Medicine has more on Down syndrome.

Posted: March 2010


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