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Single injection reverses Down syndrome in newborn mice

By Catholic Online (NEWS CONSORTIUM)
September 6th, 2013
Catholic Online (www.catholic.org)

The latest laboratory miracle offers no direct link to a treatment for humans -- but scientists are optimistic it may lead to future breakthroughs. Researchers in the United States have found a way to reverse Down syndrome in newborn lab mice by a single injection that allows the brain to grow normally.

LOS ANGELES, CA (Catholic Online) - There is no cure currently for Down syndrome, which is caused by the presence of additional chromosomes. Those born with the condition have intellectual disabilities, distinctive facial features and other health problems.

Using genetically engineered lab mice, researchers at Johns Hopkins University of Medicine in Baltimore worked with mice with extra copies with about half the genes found on human chromosome 21. This led to Down syndrome-like conditions, such as smaller brains and higher difficulties in learning how to navigate a maze.

Scientists injected the new born mice with a small molecule known as a "sonic hedgehog" pathway agonist. The compound, which has not been proven safe for use in humans, is designed to boost normal growth of the brain and body via a gene known as SHH.

The gene provides instructions for making a protein called sonic hedgehog, essential for development.

Roger Reeves of the Johns Hopkins University School of Medicine declared that "it worked beautifully. Most people with Down syndrome have a cerebellum that's about 60 percent of the normal size.

"We were able to completely normalize growth of the cerebellum through adulthood with that single injection."

There were also unexpected benefits in learning and memory, which is normally handled by a different part of the brain known as the hippocampus.

The treated mice did as well as normal mice on a test of locating a water platform while in a swimming maze.

While this was welcome news, adjusting the treatment for human use would be far more complicated, since altering the growth of the brain could lead to unintended consequences, such as triggering cancer.

"Down syndrome is very complex and nobody thinks there's going to be a silver bullet that normalizes cognition," Reeves said. "Multiple approaches will be needed."

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