Researchers at Johns Hopkins University of Medicine in Maryland discovered a way of reversing Down syndrome in mice by injecting them with a small molecule called a sonic hedgehog pathway agonist.
The study, found in the Science Translation Medicine, does not suggest a cure or treatment for humans, but researchers are hopeful that this new knowledge will lead to other breakthroughs. The compound itself has not been proven safe for humans. Using this treatment, which promotes brain growth, brings with it other concerns. There exists a possibility of, in some cases, promoting the growth of cancerous brain cells along with healthy cells.
The results were very encouraging. After only one treatment, mice that were bred to have Down syndrome-like conditions performed as well as mice without the conditions in a test of finding a platform while swimming in a maze. Unexpected results included benefits in learning and memory, which are thought to be handled by a different part of the brain.
The promise that the compound, which is designed to boost brain growth, holds will certainly lead to more research. Most people with Down syndrome have a cerebellum that's about 60 per cent of the normal size, said Roger Reeves speaking with ABC. We were able to completely normalize growth of the cerebellum through adulthood with that single injection.
Even though no effective treatments are currently available for humans, this study combined with last month’s discovery by researchers at the University of Massachusetts Medical School of a method to insert a gene that will effectively switch off the chromosome that causes Down syndrome may mean that researchers are finally beginning to make gains in a battle to control and treat a condition that affects 6 million people worldwide.