Mutation Story

Part 1

People always used to make fun of me and call me names just because I was Different. I started out life thinking I was just a normal muscle cell, but when my host Bob turned two there was something different going on with his body. Everyone blamed this on me. At first I didn’t know what was going on but I eventually learned that Bob was aging very quickly. He had progeria and it was all because of my DNA.


When my cell was born the DNA sequence was different and I was left with a deletion of a base called thymine, which Made me be born with the gene progerin. Progerin is an abnormal lamin A protein that causes progeria. Me not knowing what I was doing wrong, just thinking I was just doing normal muscle cell functions, but I was producing this protein that causes the nucleus to be unstable. This cellular instability leads to the process of premature aging and the disease progeria. And of course I can’t stop this.


Like I said when I was younger I was the odd man out but know there is many duplicates of me, because mitosis has occurred many times and my genes have been duplicated. At first me and my cell friends thought this disease was good because Bob was smarter than everyone else. But we learned this is a negative mutation. I also heard I-4 million people are diagnosed with progeria and unfortunately Bob will die at around 14. Bob’s death will probably occur from a heart attack or stroke because of this fast aging. His joints will be stiff, he will be bald, and he will just look like an old man all because of me. Of course I was depressed and mad about this at first, but their is hope for Bob and other children with progeria.


The PRF stands for Progeria Research Foundation and its main goal is to help children with progeria live a long and happy life. Bob has had to go to many meetings with PRF and of course I have gone along with him. At these meetings in Boston at PRF’s headquarters Bob not only gets to help the foundation by letting them give him test treatments like lonafarnib that is a type of farnesyltransferase inhibitor, but he gets to meet other kids with progeria. This makes Bob and me feel a lot better about ourselves. The treatment that Bob has been tested on actually was proven to help with making him have a steady weight, bone structure, hearing and the flexibility of blood vessels. This doesn’t mean that Bob and I will live till we’re old but we want to help other kids with progeria for the future. Me and Bob only have an estimated 2 years left in our lives because there is no real cure for progeria, but we are so thankful for the PRF studies and hope that one day kids with progeria will be benefited from our testings so they can live till they’re old.


Picture Resources

Part 2

Guiding Questions:

  • What is progeria?
  • What causes progeria?
  • How common is progeria?
  • Who researches around progeria?
  • Is there a cure for progeria?
  • Why is progeria a negative mutation?
  • Does progeria spread?
  • What are the features of progeria?
  • What does progeria have to do with aging?
  • What is PRF doing to help kids with progeria?

The tools I used to find information:

  • Riverside digital library
  • PRF site
  • My father because he knows someone who has a mutation
  • My science teacher
  • Website comments

The process I used to investigate my topic:

  • Found good resources
  • made sure the information was true
  • Answered my questions from the information
  • Put the information into my own words
  • made the story interesting

How I verified and cited the information:

  • Made sure I found it in riversides digital library
  • Looked through the cites info
  • Looked through comments on the cite
  • Looked through ratings on the cite
  • Made sure other cites had the same info

How I found the process of creating this project:

  • The process throughout me making this project was actually pretty interesting. I got to teach myself about this mutation by answering these questions I made for myself at the beginning of this project. This made it very fun because I figured out my problems and this made me fell accomplished when I finished the project. Using the different digital tools was also very cool to because I got to try out new things. I think improvements could have been made to my projects by finding more resources and further researching my project. Also I could have created more questions for myself to answer. In conclusion I believe this project was very fun and I would like to do something like this again.