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. Write the answers in your notebook.
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 moving dirt and
mucous up-and-out of her respiratory system. Analyze the
micrograph (see "Case Study #2" image below) and
determine what cell organelles have been damaged.
• 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.
• 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.
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
• Patient #1: Mary has ______________ and this affects the
___________________
• Patient #2: Lauren has _________________ and this affects
the _________________.
• Patient #3: Valerie has ___________________ and this affects
the _____________________.
• Patient #4 (Jim and Lisa): __________ has
_________________ and this affects the _______________.
• Patient #5: Olivia has ________________ and this affects the
___________________.
Be prepared to discuss your answers on 2.25.14