Case Assignment: Working Cell

Assignment Overview:

Organelles can contribute to disease states in many ways. First, the organelle itself may be dysfunctional either because it contains one or more defective genes that impair its function or because it has been damaged by exposure to harmful substances such as chemicals, heavy metals, or oxygen radicals. Additionally, an organelle can accumulate damage from processes occurring elsewhere in the cell

Case Assignment:

There are many diseases that are caused by the malfunction of specific organelles. Three examples are listed below:

·         I-cell disease

·         Progeria (also known as Hutchinson-Gilford Progeria Syndrome)

·         Mucopolysaccharidoses

Select one of the disorders below and complete an essay of approximately 2-3 pages in length, addressing the questions below. A link is provided to introduce you to each disorder. You will need to conduct additional research to fully complete your essay. You should consult a minimum of three quality sources when researching parts I-IV below to complete your essay. Be sure to include which organelle(s) are malfunctioning and why in your essay.

 

I Cell Disease. National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/i-cell-disease/

 

Hutchinson-Gilford Progeria Syndrome. National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/hutchinson-gilford-progeria/

 

Mucopolysaccharidoses. National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/mucopolysaccharidoses/

 

I. Cellular cause of disease

 

Describe the type of cell(s) involved with the disease. What is the specific function of this type of cell? If an organelle or other cell structure is the problem in the disease, include information about it. Are there more of a specific type of organelle in this type of cell? Why is the cell not performing properly in this type of disorder? Does this disorder affect other parts of the body?

 

II. Disease- Basic Information

 

Describe what someone with the disease would notice, and what doctors find when doing an examination. How serious is the disease? What happens if it is not treated? What effect does it have on normal living? Is it inherited? If so, describe the inheritance pattern and the gene responsible. How does the malfunctioning cell cause the symptoms? Usually, there is a protein or enzyme that isn’t produced properly. How is this related to the symptoms?

 

III. Disease Treatment and Research

 

How is the disease currently being treated? Is it curable, or is the treatment only for the symptoms? What research is currently being conducted to find a cure/treatment? Is there hope for a cure/treatment? Are stem cells or gene therapy used in research? Can these therapies lead to a cure? Why is continued research important?

 

IV. Summarize your findings.

 

 

Assignment Expectations:

Organize this essay assignment using subtitles that summarize the topic from each question above. For example, to answer Question 1, use a descriptive subtitle like the following: Cellular Cause of Disease.

 

Your essay should be approximately 2-3 pages in length. Answer each question under the subtitle using complete sentences that relate back to the question. Be sure to use APA formatting throughout your essay with 1-inch margins, 12-point type, and double spacing throughout. Include a title page, introduction, answers to the questions with subtitles, and a concluding paragraph. Remember to include in-text citations within the body of the essay referencing your resources

Direct quotes should be limited and must be designated by quotation marks. Paraphrased ideas must give credit to the original author, for example (Murray, 2014). Direct copying from “homework help” websites will not receive credit.