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. 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 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
- 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.
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.
