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There are many diseases that are caused by the malfunction of specific organelles.

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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.

  1. 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 https://cysticfibrosisnewstoday.com/2015/03/12/the-cellular-mechanism-of-cf-the-basics/
  2. 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
    https://rarediseases.org/rare-diseases/pompe-disease/
  3. 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 https://ghr.nlm.nih.gov/condition/leigh-syndrome (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.

 

 

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