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Mutation Story
Part 1: Mutation Story
Hi there, I am a CFTR gene living inside the body of a 3 year old girl named Maddy. She has a
common deadly genetic disease called Cystic Fibrosis (recessive disease) that affects mostly the
lungs and the digestive system. My job is to give instructions for making protein called cystic
fibrosis transmembrane conductance regulator. The protein that is made is supposed to
produce mucus, sweat, saliva, tears and digestive enzymes. The channel of proteins transports
negatively charged particles called chloride ions/positively charged particles called sodium ions
in and out of the cell membrane. Carrying around chloride ions help the water in tissues move
better which is significant for thin flowing mucus. Transporting sodium ions is crucial for normal
function of the lungs and pancreas. Unfortunately, there was a fault in me (CFTR gene) which
causes my proteins to not work properly.
Cystic Fibrosis (CF) occurred in Maddy’s body because 3 DNA nucleotides from my body were
taken away (deletion) so everything is messed up. A clone of myself from the other parent was
just like me with 3 DNA nucleotides missing. Maddy got 2 abnormal copies of me from each
parent which caused her to have this disastrous mutation. If the generation of genes before me
were carrying CF but it was not noticeable in their host’s body, the next generation would have:
25%-child born with CF, 50%-child will carry the CF gene but no symptoms, and 25%- child will
have nothing. Basically Maddy got the unlucky quarter of all the outcomes of the mutation.
My clone’s and my defective gene made my host’s body have a very hard time. When I observe
her body from time to time, her organs have difficulties digesting protein/fat. In her veins and
blood vessels, there is a lack of nutrition and vitamins because her body can’t absorb them
properly. Maddy’s pancreas duct is blocked by thick, sticky mucous and a sever sinus infection
When I go look at her upper part of the body, there is ongoing awful lung damage from
continuous infections and abnormal inflammations. Every day, she loses weight and even if she
increases her appetite, she is still unable to gain any.
Maddy is only 3 years old and is already having a hard time doing little things. When she is
walking around with her parents, she is constantly coughing with thick mucous, wheezing, and
has a shortness of breath. She has bowel disturbances like intestinal obstruction or frequent
oily stools which is difficult for herself/ her parents to manage. Maddy is still an ordinary little
girl with no appearance or mental issues that can affect social problems in the future. She has
salty tasting sweat (more salt content in sweat than average) but that won’t affect her and
others as much. There were some times where she was tired and because of the thick mucous
it was difficult for her to breathe so her parents had to quickly get the specific machine that
gets rid of mucous from her lungs. Unfortunately there is no cure for Cystic Fibrosis yet and
Maddy still has a long way to go. All she can do is take antibiotics to help her digestive system,
fill in for her missing nutrients and just be aware of the consequences that can arise related to
CF.
Sources:
http://www.cysticfibrosis.ca/about-cf/what-is-cystic-fibrosis
https://ghr.nlm.nih.gov/gene/CFTR
https://www.youtube.com/watch?v=ucbxYIVztz8
https://www.nhlbi.nih.gov/health/health-topics/topics/cf/causes
https://www.reference.com/science/example-frameshift-mutation-c7afa82e2185eac6
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1683026/
Part 2: Information Fluency
Ask:
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What is Cystic Fibrosis?
What are the symptoms of CF?
What happens to the gene for CF to be created?
Is Cystic Fibrosis curable?
Will it affect a certain age group?
How can you know if you have CF?
How is Cystic Fibrosis caused?
Acquire:
I used different digital tools to help answer the questions about Cystic Fibrosis and enough for
me to write a story about it. For example a familiar tool that I used is Google, but I also used a
website just for the mutation and varieties of different useful websites. Another tool I used is
YouTube and watched a video from Khan Academy which is a trustful source.
Analyze:
For every piece of information that I found, I wrote the main points on my notes so I clearly
knew what I was going to talk about in my mutation story. I also made sure each website was
safe and that the information was accurate by checking with other websites to see if the
information was all the same. I made sure everything was in my own words and if I liked the
meaning of a sentence, I would always word it differently so it does not become plagiarism.
Assess:
I think the process of this mutation project went decent and that I found a lot of information for
my story to meet all the criteria. I felt that if somebody read the story, they would know more
about Cystic Fibrosis even though it’s from the perspective of the gene. An improvement I
could’ve made was adding more first person perspective sentences so it looks like the story is
more from the gene’s perspective. Another improvement I could’ve made was talking more
about the gene of the mutation since we were learning about genes in science class, but overall
I thought I did pretty well on the assignment. Maybe next time I do another assignment for any
class, the information fluency layout can help me organize my project more and to make sure I
didn’t miss anything important.