Down Syndrome has continued to present itself as the leading chromosomal abnormality with around 6,000 babies born with it each year. The older a mother gets, the higher the chance of her having a Down syndrome baby is (Shin, 2010). But what exactly does an extra chromosome do to the people who have it?
As the current dogma of genetics goes, DNA makes RNA, RNA makes proteins, and proteins code for specific traits that an individual may have. Diseases and complications can occur when proteins are over expressed or under expressed, which is what happens in the case of Down syndrome. For example, the gene AIRE on the 21st chromosome codes for an autoimmune regulator protein that is active in the thymus and plays an important role in the immune system’s function (Genetics Home Reference, 2013). When hypo expressed, like in DS, people have a higher susceptibility to infections because an important protein in their immune system is missing (Lima, 2011). When our bodies don’t get enough, or get too much, of a specific protein that is crucial for it to survive, it can cause unfavorable characteristics. Humans are made to function with 46 chromosomes. Unfortunately, adding another one to the mix does not result in a favorable outcome.
Although the 21st chromosome is the smallest in the human body, it houses essential information that helps our body’s function the way they were meant to be. This certainly does not make someone who has Down syndrome lesser of a person than someone who doesn't have it. It makes them unique!
As the current dogma of genetics goes, DNA makes RNA, RNA makes proteins, and proteins code for specific traits that an individual may have. Diseases and complications can occur when proteins are over expressed or under expressed, which is what happens in the case of Down syndrome. For example, the gene AIRE on the 21st chromosome codes for an autoimmune regulator protein that is active in the thymus and plays an important role in the immune system’s function (Genetics Home Reference, 2013). When hypo expressed, like in DS, people have a higher susceptibility to infections because an important protein in their immune system is missing (Lima, 2011). When our bodies don’t get enough, or get too much, of a specific protein that is crucial for it to survive, it can cause unfavorable characteristics. Humans are made to function with 46 chromosomes. Unfortunately, adding another one to the mix does not result in a favorable outcome.
Although the 21st chromosome is the smallest in the human body, it houses essential information that helps our body’s function the way they were meant to be. This certainly does not make someone who has Down syndrome lesser of a person than someone who doesn't have it. It makes them unique!