Kara Ward October 5, 2009 Scientific Critique of The Price of Silent Mutations DNA has four nucleic acid

bases A, G, T, and C. These four bases combine in sequences of three to encode for amino acids. There are 64 possible combinations with these bases, but only 20 amino acids. Three of these combinations are the signal for STOP (AKA the ribosomes should stop encoding for the protein) but the other 61 code for the amino acids. Therefore, there are some combinations which code for the same proteins. For many years, researchers believed that these codes were interchangeable as long as the protein remained the same. Recent research, however, is showing that these silent mutations may not be as harmless as they seem. Chamary and Hurst discuss silent mutations and their probable effects in their article The Price of Silent Mutations in the June 2009 issue of Scientific American (Chamary, 2009). The article discusses how, until recently, scientists thought that silent mutations did not affect protein synthesis in mammals. Silent mutations occur when a sequence is mutated for example, from ACC to ACA but the new sequence codes for the same protein (in this case, Threonine). According to the article, however, recent studies have shown that in some cases these silent mutations may actually be the underlying cause of genetic diseases like Cystic Fibrosis (Chamary, 2009). This article was less about one specific study and more a collection/organization of information from multiple studies over many years. The article was very well put together. It gave a good explanation of silent mutations as well as the effects they are

now believed to have on the human body. The tables and diagrams included within the article were very clear and concise. They really help the average reader (AKA not a geneticist with a PhD) understand exactly what silent mutations are and how DNA and RNA are affected by them. The authors of the articles did not include much concrete, statistical data to support their conclusions. This, however, can be explained by the fact that it is really difficult to apply statistical data to this topic. Rather than analyzing statistics to come up with the eventual conclusion that silent mutations may actually have a much larger effect on genetics than previously believed, the authors compiled evidence from years of research. Despite this lack of statistical evidence, I still believe the conclusion drawn by the authors is supported by the other evidence they provide. Based on the evidence provided in the article, the authors draw the conclusion that silent mutations may not be as silent as previously thought. In fact, it seems that these mutations may be the true cause of genetic diseases such as Cystic Fibrosis and Marfan syndrome (elongated body parts). Based on the evidence, I agree with the authors conclusion.

Works Cited Chamary, J. V., Laurence H. 2009. The Price of Silent Mutations. Scientific American. p. 46-53.