How Does Cell Organelle Dysfunction Affect Homeostasis?
SB1: Students will analyze the nature of the relationships between structures and functions in living
cells.
a. Explain the role of cell organelles for both prokaryotic and eukaryotic cells, including the cell
membrane, in maintaining homeostasis and cell reproduction.
Introduction:
Cell organelles play vital roles in the life and function of the cell and organism.
Most of the time, our organelles function properly and we are able to live happily
and healthy each day. However, occasionally individuals may be born with
malfunctioning organelles. This can lead to various kinds of symptoms and
diseases.
Task:
Step 1: Investigate the connections between dysfunctional organelles and
disease.
 Complete disease/syndrome and organelle chart on the following page by
matching the disease or syndrome with the affected organelle using the
symptoms as clues.
 Once the organelle has been matched with the correct disease or syndrome,
list the normal function of the organelle.
 For each disease explain how the dysfunction of the organelle affects
homeostasis at the cellular level and organism level.
Step 2: Solve medical case studies
 Read each case study and determine the name of the disease and which
organelle is responsible for the disease symptoms based on the information
from the chart completed in Step 1.

Write at least one paragraph explaining the diagnosis to parents of the
patient for each case study. Remember you are the expert and need to
explain to the parents the name of the disease, the name of the organelle and
how the malfunctioning organelle is responsible for the disease.
Case Studies:
Case Study 1 – Adam
Adam was a pleasant, happy infant who seemed to be developing normally
until about 5 months of age. Able to roll over and sit for a few seconds,
suddenly he seemed to lose those abilities. Soon, he no longer turned
and smiled at his mother’s voice, as he had before, and he did not seem as
interested in his crib mobile as he once was. Adam’s parents became concerned
and took him to the doctor. The doctor ran several tests and noticed that there
was a heavy startle reaction. After looking into Adam’s eyes the doctor also
noticed a cherry red spot on the retina of the eye.
Case Study 2 - Scarlett
Scarlett’s parents did not have an ultrasound and were shocked when she was born
with a small body, skeletal deformities including short limbs. Unfortunately for
Scarlett’s parents she only lived for 3 weeks due to serious health issues.
Case Study 3 - Lisa
Lisa is a 4 month old child who was brought into the E.R. after a violent
coughing spell that produced a large amount of phlegm (mucus) and difficulty
breathing. The parents told the doctor that they had recently noticed a salty
taste to Lisa’s skin when they kissed her.
Case Study 4 - Nicole
For the first 2 months, baby Nicole seemed fine. At 3 months she developed a
severe viral respiratory infection. As she fought the infection she began to have
problems sucking and turning her head. Because of the issues with eating she
wasn’t gaining weight. She also became irritable and cried almost continuously.
The parents took Nicole to the doctor who ran several tests. The test results
showed lesions on the brain and brain stem.
Disease/Syndrome
Symptoms
Cystic Fibrosis
Chokingly thick mucus
in the lungs; frequent
lung infections; clogged
pancreas; digestive
problems; salty sweat.
Salt has problems
leaving and entering
the cells of the lungs
and pancreas.
Infant appears normal
until the age of 3 to 6
months. Lose of the
ability to turn over,
crawl and sit up.
Infants develop
exaggerated startle
response and may also
have a cherry-red spot
in the eye. Symptoms
result due to the lack of
an enzyme to
breakdown fatty
substances in nerve
cell.
Infant has a small
body, short limbs and
other skeletal
abnormalities. Due to
serious health problems
infants are stillborn or
die soon after birth.
Abnormalities are due
to proteins not being
packaged and moved to
the endoplasmic
reticulum.
Infants with the
syndrome have trouble
swallowing or sucking,
leading to a failure to
thrive. This usually
occurs after a viral
infection. They also
become irritable and
cry continuously.
Lesions on the brain
and brain stem are
other symptoms of the
disease.
Tay-Sacs
Achondrogenesis
Leigh’s Disease
Affected Organelle
Normal Function of
Organelle