|Due By (Pacific Time)||11/23/2016 01:00 pm|
As stated above, each student will write a 7 - 10 page paper (double spaced, 1 inch margins, no headings) about the biochemistry and metabolic consequences of an inherited disease caused by the single mutation of the WRN gene that encodes for an enzyme or transporter.
Mutations in the WRN gene causes this disease because the WRN gene plays a critical role in repairing damaged DNA. Werner proteins function as enzymes such as helicase which unwinds DNA and endonuclease which removes abnormal DNA structures that are accidentally formed.
“WRN Gene - Genetics Home Reference." U.S National Library of Medicine. U.S. National Library of Medicine, n.d. Web. 30 Sept. 2016."
Only use scientific journal articles and not websites as your primary source of information. Use at least ten sources published within the last 5 years will provide the most up to date information and should be used whenever possible. Cite references as done in the Journal of Biological Chemistry.
*Include no more than 4 diagrams to explain concepts. Diagrams should not take up more than a quarter of the page and must have photo credit and proper citation.
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.
You must include answers to the following questions in the paper:
As a guide, consider addressing the following questions:
What are the substrates and product 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 regard
Why 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 of compensation 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 to treat the disease, please do so.
out of 1971 reviews
out of 766 reviews
out of 1164 reviews
out of 721 reviews
out of 1600 reviews
out of 770 reviews
out of 766 reviews
out of 680 reviews