BIO 101 Module 2 Case TUI
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BIO 101 Module 2 Case TUI
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 https://cysticfibrosisnewstoday.com/2015/03/12/the-cellular-mechanism-of-cf-the-basics/
- 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/ - 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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