Mutation and Defection of the Cystic Fibrosis
Mutation and Defection of the Cystic Fibrosis
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. In this assignment, you will explore how normal cellular functions can be disrupted by dysfunctional organelles.
Case Assignment
There are many diseases that are caused by the malfunction of specific organelles. Three examples are listed below: Cystic Fibrosis, Pompe Disease and Leigh Syndrome. 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.
- Cystic Fibrosis – One of the causes of the symptoms of cystic fibrosis is a defect in the calcium and chlorine ion channels in the cell membranes, thus producing abnormal amounts of fluid and salts in specific organs.
Shannon, S. (2016). The Cellular Mechanism of CS: The Basics. Cystic Fibrosis News Today. Retrieved from
- Pompe Disease – The inability of the lysosome to break down macromolecules like glycogen causes a build-up of those substances within the organelle. This leads to progressive muscle weakness due to the lack of monomers available to the mitochondria for cellular respiration.
Pompe Disease.(n.d.) National Organization for Rare Disorders. Retrieved from
- Leigh Syndrome – The inability to effectively produce ATP due to a defective mitochondrial gene for one of the ATPase enzymes. Symptoms start in the central nervous system and progressively worsen.
Leigh Syndrome. (n.d.). US National Library of Medicine. Retrieved from (also a good source for genetic information on the conditions above)
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 concluding paragraph. Remember to include in-text citations within the body of the essay referencing your resources (i.e. Murray, 2014). Also, be sure to include a reference section at the end of your assignment listing all required readings and any additional resources you used to complete your essay. A helpful guide to writing a quality essay can be found in Trident’s . This guide also provides links to example essays written within APA format.
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. Once you have completed your assignment within a word document, please upload your final version to the Module Two Case Assignment dropbox. Please also note your Turnitin originality score and make revisions as needed. Please contact your instructor with any questions.
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