Chemistry: Mutation and Single Missense Mutation Essay examples

Submitted By jiji19
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Pages: 3
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Medium-Chain Acyl-CoA Dehydrogenase Deficiency is an interesting topic that discussed some of the materials that we covered in class. I actually enjoyed reading it because I already have a background regarding the topic. The introduction was very interesting, as well as the flow of the materials. Firstly he started with a simple definition of the disease and I am sure every student in the class is familiar with. In the third page he started talking about the genetic of the disease “While twenty-six different ACADM gene mutations have been linked with causing MCAD deficiency, the vast majority (88.9%) of mutant MCAD genes are due to a single missense mutation in which a guanine replaces an adenosine in base 985 of the ACADM gene (G985A).” Using this quote, he focused on one mutation of the disease, which is good, instead of just having a broad argument about the disease. The paper became more interesting when he started talking about the consequences of the disease. He provided a study of seventy-eight MCAD deficient survivors over the age of two years old with a table charts. However, the paper was missing pictures and the author failed to provide personal view toward the disease such as how the disease can be cured from his point of view using the biochemistry materials covered in class. Finally using the latest resources (year of 2012) was another good strategy that made this paper up to date.

Friedreich’s Ataxia and Frataxin:A Discussion of the Biochemistry Behind the Disease:
In my opinion the introduction was very complicated since I had to read it three times to get something out of it. “When the sequence is repeated exponentially, as is the case with GAA in the FXN gene, the length of the DNA strand increases” I think this sentence should not be in the introduction. In addition, the author talked about the symptoms at the beginning of the second page which is too early. It would’ve been better if he talked first about gene mutation or regulation instead “The first symptom is gait ataxia, or trouble walking, which then spreads to upper extremities. Gait ataxia is followed by loss of sensation in all limbs, leaving the afflicted incapacitated and confined to a wheelchair.” In the third page same thing over again, he was into pathology more than biochemistry of the disease which I did not find interesting. In the fifth page, he mentioned that “Insulin should inhibit glucagon in order for glycogen to stop
Being broken down in the liver” and the relationship between insulin and glucagon wasn’t that clear for me. The author failed to provide personal opinion regarding the disease like how the disease can be cured or how the mutation can be treated, any suggestion for a treatment, gene
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