The topic I chose is Sickle Cell Anemia. The sources used have to be scientific


The topic I chose is Sickle Cell Anemia. The sources used have to be scientific articles and/or sources. Please also add a separate reference page for the sources used.Each student will write a 7 10 page paper (double spaced, 1 inch margins, no headings) about the biochemistry and metabolic consequences of a monogenic, inherited disease. Generally, these diseases involve the mutation of a single gene that encodes for an enzyme or transporter. The reports should center on biochemistry and not pathology. However, if you can trace the effect of mutations in the , affected gene to alterations in the respective protein’s function to alteration of cellular physiology to the symptoms characteristic of the disease, that is ideal.As a guide, consider addressing the following questions:What are the substrates and products of the reaction the enzyme catalyzes?Where is the enzyme found in the cell?What pathway is the enzyme is part of?What is the physiology of this pathway?In what cells / tissues / organs is the protein expressed? What overall purpose / function is served?How does the mutation affect the structure of the protein?missense mutations are the most informative in this regardWhy does this mutation decrease the ability of the enzyme to catalyze the reaction?Is the enzyme now less stable or is it stable but the substrate binding site has been altered?Does the substrate accumulate?If not, what happens to the substrate?Is the problem the lack of product synthesis?Is there another reaction that can synthesize the product? (i.e. compensatory mechanisms)If there is no known compensation, suggest why. You should suggest a potential mechanism ofcompensation if there is not one in the literature. Be creative.How does the body attempt to cope with this decreased enzyme activity?How does the disruption of this pathway lead to the symptoms of the disease?Is there a therapy for this metabolic disease? If so, what is the metabolic basis of the therapy?Are there side effects of the therapy? If so, what is the metabolic basis of the side effects?Look for strategies in addition to gene therapy. If you want to be creative and propose a novel way totreat the disease, please do so.