Down's Syndrome Brain Defects

                About 400,000 people in the United States are estimated to have an incurable, heritable disorder called Down's Syndrome. Some known characteristics of Down's Syndrome are impaired cognitive ability and abnormal physical growth. Down's Syndrome is a disorder where a person inherits an extra copy of all or part of chromosome 21. The brain defects in Down's Syndrome patients were not understood until now. A team of scientists have worked with a mouse model of Down's Syndrome, and have discovered that two genes are responsible for most of the brain abnormalities in their experiments with animals. In their experiment, they used mice with Down's Syndrome. It was shown in previous studies that the brain defects in the mice affected with Down's Syndrome occured while the mice were developing embryos. Some of the Down's Syndrome features, which are cognitive deficits, heart defects, gastrointestinal problems and poor muscle tone could've resulted from the extra copy of genes. Olig1 and Olig2 were found in the mice. They were the two genes that were found to be possibly responsible for brain defects for the mice. It is too soon to say that it is the same for humans, but it is possible that they are responsible for the human brain defects for Down's Syndrome patients since they exist in them.

            This is related to science concepts because it has to do with understanding how Down's Syndrome patients are affected by the extra chromosome 21. Experiments and studies have been made to further understand Down's Syndrome. So far, it is incurable. The fact that it is also inheritable means there will be more people effected with this disorder.

            This article is important to us because it talks about how scientists have made a discovery that could further bring us to a solution for Down's Syndrome patients. This means that some of the patients could be saved instead of having no way out of it. It could also mean that they could lead normal lives. With more discoveries like having found 2 genes responsible for brain defects, it could possibly help scientists find other important discoveries that they have missed before.

http://www.scientificamerican.com/article.cfm?id=2-genes-linked-to-embryonic-brain-impairment-in-downs-syndrome&page=2