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2017 Best Literary Work - Armella Poggi

A point mutation occurs when there is one incorrect nucleotide pairing in a portion of DNA or RNA. Usually point mutations are harmless and therefore considered ‘neutral’. However, there are examples of when this single nucleotide switch causes a harmful affect for its person (called deleterious point mutations). Nucleotide switches cause individual codons to change, and this can then cause the overall protein created by that particular gene to change, or even not be produced at all. If a certain protein is not being produced, there can be lasting effects. This is due mostly to how incredibly complex of creatures we are, with each of the millions of proteins created in our body serving some crucial purpose. A few examples of diseases and disorders that can be caused by point mutations are Huntington’s disease, cystic fibrosis, sickle-cell anemia, colorblindness and more. I chose to write about Tay-Sachs disease because it shows to arguably the greatest extent that such a small deviation can affect a person. Children who suffer from Tay-Sachs disease don’t usually live longer than age 4, because missing the protein beta-hexosaminidase A is that destructive to the body. Without the beta-hexosaminidase A protein, a fatty substance called GM2 ganglioside that accumulates in the brain can’t be degraded. This accumulation of GM2 ganglioside then damages neuronal cells, which in turn damages the entire nervous system. And without the nervous system, a person cannot be. In this piece, I accurately recounted the gene, chromosome and proteins involved in the progression of the disease and also recount a possible codon (CGA) that could cause the development of Tay-sachs disease by a G to A point mutation. It is both fascinating as well as humbling to me to recognize how the seemingly smallest, most minute deviation of single nucleotides could have such dire health affects on humans.