One in every 691 babies born every year is diagnosed with down syndrome.  Down Syndrome is the result of a baby having 3 copies of the chromosome 21 instead of just 2.  Within this extra chromosome, over 300 extra genes are housed that do not show up in a person without down syndrome.  This is why there are many characteristics that are similar along down syndrome people.  Such as distinct facial features and other disabilities such as having a hard time learning.  The cerebellum only develops to about 60% as well, contributing to other disabilities and handicaps.  With over 300 different genes, this makes it very difficult to find treatments to help with the condition.

A new report in Science Transitional Medicine, shows findings that scientists may have designed a way to reverse down syndrome.  This may seem like a long shot but this study conducted on mice has promising findings.

The mice used in this experiment had many characteristics similar of that to a person with down syndrome.  A smaller cerebellum, difficulty learning and remembering their way out of a maze.  There have been many studies previously done on how exactly down syndrome effects the brain.  Using this prior knowledge, scientists tried to supercharge a biochemical chain of events called the sonic hedgehog pathway which triggers growth and development.  They developed a compound of sonic hedgehog pathway agonist that was inject into the “down syndrome” mice on the day of birth.

The idea behind this compound is to normalize the cerebellum’s growth from day one so that it will grow into that of a normal person’s.  The results of the mice’s injects turned out perfectly.  The growth of the cerebellum continued at a normal rate throughout adulthood after just one single injection.  The mice were then put through a series of tests to see if the cerebellum really did function like it should.  They were tested against mice born with no type of down syndrome on a series of water maze tests and found that they both were able to preform at the same level.

Roger Reeves, from the John Hopkins University School of Medicine, explains that much further research is needed before this procedure can be safely tried on humans.  While the compound helped to regulate the cerebellum, certain cells in the hippocampus that are responsible for learning and are significantly effected by Down Syndrome were unchanged by the injection.  The relation between the cerebellum growth and hippocampus cells is still unknown by researchers.

While the idea of this seems great who knows, if it could ever be put into human trial.  “Altering an important biological chain of events like sonic hedgehog would likely have many unintended effects throughout the body, such as raising the risk of cancer by triggering inappropriate growth.” (Reeves)  There is still potential here but I wouldn’t hold my breath for this treatment anytime soon.

In my opinion, this is a great thing for researchers to be spending their time on.  While many down syndrome people are able to live their lives it is not without struggle and dependency on others.  This study is the first steps we need towards finding a cure for this.  I find it interesting that they inject the compound at birth.  The cerebellum is quite small when a child is born but how soon do you start to see its effects?  It is a little bit sad because you are changing the child’s whole demeanor into a different person.  Who knows what else it is altering besides the cerebellum growth.  Dr. Reeves acknowledges that it may have negative effects on other parts of the body but when do you find the point where the consequence outweighs the benefit?  With the rise of this, I expect there to be some heavy ethical debates.  Especially between religion groups that believe a child is sent from god and made exactly how they are meant to be.  I look forward to hearing the progress of this in the future.

www.dsindiana.org

www.ibtimes.co.uk

http://www.scienceagogo.com/news/20130804022329data_trunc_sys.shtml