Diseases that affect specific
organelles
• Read about each of the following diseases that affect the
organelles
• Take notes!
• Put on your doctor hat, delve into your investigative skills, and
diagnose the patients.
Dr. Ben Carson,
MD.
Author of
“Gifted Hands”
and “Think Big”.
Look him up!
Truly an
inspiration!
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Tay-Sachs Disease:
http://www.mhhe.com/biosci/ap/foxhumphys/student/olc/h-reading10.html
Cystic Fibrosis Investigation (Learn.Genetics.Utah.edu)
http://learn.genetics.utah.edu/content/genetherapy/gtintro/
Mitochondrial Disease:
http://www.umdf.org/site/pp.aspx?c=8qKOJ0MvF7LUG&b=7934633
Friedrich’s Ataxia:
https://docs.google.com/a/aggies.ncat.edu/viewer?a=v&q=cache:bt9Ee3cjs
RcJ:www.muscle.ca/fileadmin/National/Muscular_Dystrophy/Disorders/427E
_Friedreichs_Ataxia_2007.pdf+&hl=en&gl=us&pid=bl&srcid=ADGEEShjcRv
ZfxI5sZvKIG9qoPj7t197KVbSu87chCZmb32jdg8j8VLzgdLtrEnP2QUK8k3bKX
Qn4NyY8VM1KfifD2WzpQ5j8qVFLnMxrap8MqEYSX7YnTsjryFjQKIG9OEg63lqHLw&sig=AHIEt
bQW4QJUSE1WwnRPJ88gnvfokd6AHQ
Adrenoleukodystrophy (ALD):
http://www.mhhe.com/biosci/ap/foxhumphys/student/olc/h-reading10.html
• Using your knowledge about the cell, organelle, and organelle
diseases, do the following:
1. Tell which disease/disorder afflicts EACH patient and..
2. Tell which organelles are affected by the disease
3. Type your answers into a Microsoft Word document. Attach as
a file and send to fstevens@wsfcs.k12.nc.us
4. You may ask peer for help, but be leery of getting advice
from other doctors (trust your own instincts and diagnosis). 
Mary is a fifty-five year old female, who arrived in the ER at
4:35 p.m. with complaints of severe fever and pain. The
attending physician took blood work and revealed that there
was a high concentration of oxidative enzymes in the blood
such as catalase, D-amino acid oxidase, and uric acid
oxidase. In addition, there were relatively high levels of fatty
acids in the blood, which the physician suggested they
were not being properly metabolized. A density gradient
procedure found that an organelle approximately 0.5
microns in diameter was missing. The physician also
diagnosed Mary with having gout in the joints in her
hands and feet, a condition which is caused by the
accumulation of uric acid. That same night around 11:00
p.m., Mary began to lose feeling in her lower back. The
doctors performed a routine spinal tap (ST) to see if there
was an infection in her cerebral spinal fluid. This test turned
out to be negative; however, the attending physician did take
a biopsy which revealed the nerve cells in Mary’s back were
not producing enough myelin, a dielectric material needed
for proper nervous system signaling.
Lauren is a senior at a nearby high school. She is a good
student who does her work on weekdays and likes to party on
the weekends with her friends. A few months ago, Lauren
developed a persistent cough that has worsened over time.
She has also had trouble breathing over the past week or
so. Her parents decided it was time she see a doctor and
made an appointment with the family physician. Lauren
arrived at the doctor's office the following day. The doctor
asked her a number of questions about her health history and
daily habits, including, whether or not she smoked cigarettes.
Lauren responded that she started smoking cigarettes (about
2 per day) her freshman year of high school and does not
intend to quit anytime soon. The doctor decided it was
necessary to take a biopsy of the cells that line the bronchus
(passageway to the lungs). After several days, the biopsy
report has come back along with a micrograph of the
bronchial cells. Lauren's cigarette smoking has badly
damaged these organelles which are responsible for
mucous and dirt moving up-and-out of her respiratory
system. Analyze the micrograph (see "Case Study #2"
image below) and determine what cell organelles have
been damaged.
• Jim and Lisa have lived in the state of New Jersey
most of their lives. They are both in their early
30's and recently married. They have been trying
to have their first child for a number of months but
Lisa has been unable to get pregnant. Recently,
Jim and Lisa decided to go to their family
physician to see if there may be something wrong.
The physician obtained a sample of Jim's sperm
cells and had it sent to a lab for microscopic
analysis. After several days, the physician
received a micrograph of the sperm cells and
noted a structural defect in the organelle
responsible for cell movement. Analyze the
micrograph (see "Case Study #4" image below)
and determine the organelle responsible for Jim
and Lisa's inability to have a baby.
• Valerie is a studious 15 year old who is also a
valuable member of her school's field hockey
team. They are 15-1 this year and have a chance
at winning the state championship. However,
Valerie recently began feeling ill with
noticeable signs of a high fever. After several
days, her parents decided to take her to the ER
and the attending physician admitted her to the
hospital with an ongoing bacterial infection.
After several more days, doctors are perplexed
that her body is unable to fight off the infection.
They decide to take a blood sample and have it
sent to the lab for analysis. Lab results indicate
that the vacuoles in her white blood cells are
successfully trapping the bacteria. However, this
organelle is not binding to the vacuoles and
releasing the enzymes necessary to break down
the bacterial cell walls. Identify the organelle so
doctors can begin providing the proper treatment
to Valerie.
Olivia is a sixteen year old track star at a local school
nearby. She arrived in the ER at 5:03 p.m. with complaints of
extreme muscle weakness and loss of muscle coordination,
particularly in her arms and legs! She told the attending
physician that for the past few days, she had been pretty
exhausted with little energy to do anything. Blood taken did
show one particular abnormality. Her glucose levels were
rather high although she was an athlete and did mention she
ate carbohydrates the night before a race. However, this
notion could be dismissed since she did not have a race in the
past week. The doctors concurred that something else must be
going on to render such high glucose levels (i.e. something
was not breaking down these sugar molecules). In addition,
the doctors ordered for a muscle biopsy to be performed.
After viewing the tissue sample under the microscope, the
doctors saw that the muscle fibers were ragged red which
contained mild accumulations of glycogen and decreased
activity for the enzyme cytochrome c oxidase
Analyze each patient. Tell which disease they have. Tell which organelle it
affects. Support your findings from the information on the diseases
researched. Write in complete sentences (paragraph format). Upload to
Edmodo.
• Patient #1: Mary has ______________ and this affects the
___________________. Reasons…
• Patient #2: Lauren has _________________ and this affects the
_________________.Reasons…
• Patient #3: Valerie has ___________________ and this affects the
_____________________.Reasons…
• Patient #4 (Jim and Lisa): __________ has _________________ and this
affects the _______________.Reasons…
• Patient #5: Olivia has ________________ and this affects the
___________________.Reasons…
Be prepared to discuss your answers on 2.25.14
This counts as 0.5 Project/Test Grade!!
Patient
Disease
Correctly
Identified?
Organelle
Affected
Correctly
Identified
Did you
Total
support your
answer with
reasoning from
the reading
Patient #1
Yes= 5 points
No =0 points
Yes = 10 points Yes = 5 points
No = 0 points
No = 0 points
20
Patient #2
Yes= 5 points
No =0 points
Yes = 10 points Yes = 5 points
No = 0 points
No = 0 points
20
Patient #3
Yes= 5 points
No =0 points
Yes = 10 points Yes = 5 points
No = 0 points
No = 0 points
20
Patient #4
Yes= 5 points
No =0 points
Yes = 10 points Yes = 5 points
No = 0 points
No = 0 points
20
Patient #5
Yes= 5 points
No =0 points
Yes = 10 points Yes = 5 points
No = 0 points
No = 0 points
20
Total Points = 100