Mutation Story

Casey the Gene

I am Casey the CFTR gene, Linda lives a very hard life due to my mutations. Some others have it way worse though. Luckily Linda’s isn’t as severe as it could be.

My job as the CFTR gene is to provide instructions to make a channel that transports negatively charged particles called chloride ions in and out of a cell. Chloride is found in sweat mostly. Chloride helps function the flow of water in tissues which helps produce thin mucus. Unfortunately for me I have had a mutation in me, so I mess with the function of these chloride channels. Causing the preventions of a regular flow of chloride channels and water. As a result the cells that create passageways of organs such as lungs start to produce unusually thick mucus. This is called cystic fibrosis. Yes, I Casey the CFTR gene cause this. Luckily though Linda doesn’t have more mutated gene’s causing this disease to be more serious.

My mutation was caused by substitutions or deletions or additions inside of me as a result the protein doesn’t fold properly which causes quicker degration. I usually cause problems in the respiratory system which causes Linda to cough or even cough up blood. Sometimes her lungs can collapse. Luckily this doesn’t happen often and neither did her toes and fingers and heart grow larger than usual, but her nose is a little larger then usual.

Linda when she was younger was bullied sometimes for her larger than usual nose, and especially when she was in class and had stopped breathing and the school had to call the ambulance. Although Linda has had cystic fibrosis for almost all her life. So she has learned to own up to it and stand up for herself she now still has troubles breathing sometimes, but she has a stable group of friends who take care of her when she needs help.

So overall being a CFTR ( cystic fibrosis transmembrane conductance regulator) gene isn’t so bad even if I am mutated. Linda is lucky because my mutations weren’t as bad as they could’ve been and I’m Casey and I’m happy because Linda still gets to live a long (as technology gets better) loving life.

 This is the difference between a healthy lung and a lung with cystic fibrosis.

1. What questions did you need to research in order to create your mutation story?… Here are most of the questions I reasearched: what is cystic fibrosis? What happens to a gene during cystic fibrosis? What caused the mutation of a CFTR gene? How does a CFTR gene mutate? What does cystic fibrosis do to a person and how does it affect ones life? What are Physical mutations caused by cystic fibrosis?
2. What new or  familiar digital tools did you try to use as you worked through this project?… I used YouTube and Google.  I also learned through Mr.Robinsons lesson on mutations as he talked a little about cystic fibrosis.  Here are some links I used:
   2. https://ghr.nlm.nih.gov/condition/cystic-fibrosis#diagnosis
   3. http://www.nchpeg.org/nutrition/index.php?option=com_content&view=article&id=462&itemid=564&limitstart=4
   4. https://en.m.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulator
3.  What was the process you used to investigate the topic?… First I researched what cystic fibrosis was, just to get a little idea.  Then I wrote down the questions I searched up and copied the links into my notes.  Next I started writing my story breaking it down into different parts (paragraphs) after I got all the information I needed and started writing about how I am a CFTR gene named Casey living in Linda’s body.
4.  How did you verify and cite the information you found?… After I looked at a few sites I started to see which sites had similar information and which sites were completely different.  I also got my science teacher to read over some of my story and she didn’t say that there was any wrong information.
5. How did the process of completing this challenge go? What could you have done better?… The process of completing this challenge went smooth for the most part.. I had troubles finding out what causes the mutations of the CFTR gene, but with a little more deeper research I soon got my answer.  What I could have done better is use different research tools.  Like maybe use books or interview someone who knew about cystic fibrosis…