Part 1: Mutation Story
My name is Hutchinson-Gilford syndrome, but you can call me progeria for short. I am a negative genetic mutation inside of 10 year old Sarah’s body. I am a rare gene found in few children that causes their body to age fast. My siblings and I only affect 1 in 4 million children of all races and genders. For Sarah her body is what is most affected by my appearance.
Sarah’s mutation wasn’t inherited from her parents, Sarah was born with my mutation which was caused by the LMNA gene that makes a protein called lamin A. The protein lamin A plays a part in determining the shape of the nucleus within a cell. I was the result of a production of an abnormal version of the protein lamin A. The abnormal protein causes the nuclear envelope to become unstable, damaging the nucleus, making the cells more likely to die prematurely.
I affect Sarah more physically than internally. When Sarah was born she looked like any other healthy newborn baby and then began to show symptoms of having progeria and diagnosed before the age of two. my mutation caused Sarah to have a large head, big eyes, aged looking skin, abnormal tooth growth, hair loss including eyelashes and eyebrows, loss of body fat, fragile bones, and causes Sarah to have a high pitched voice. There is no way for Sarah to get rid of me, but she can have surgeries that limit complications that Sarah may have like heart attacks and strokes.
My host Sarah has always had hard times doing things that all kids are able to do and usually suffers from muscle pains. Most children living with progeria die at the average age of 13 but some are known to have lived longer than that age. Sarah goes to school like any other child, although she has a larger head her brain wasn’t affected. Some people stare at Sarah because she looks different but she acts the same as any other kid. It makes me feel bad for causing Sarah hardships and knowing that because of me we will both die at a young age.
Links Used:
http://www.mayoclinic.org/diseases-conditions/progeria/basics/symptoms/con-20029424
https://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome#inheritance
http://www.webmd.com/children/guide/progeria?page=1#1
https://www.genome.gov/11007255/learning-about-progeria/
http://www.progeriaresearch.org/progeria_101.html
http://abcnews.go.com/Health/children-living-progeria-inside-world/story?id=14182279
Part 2: The Making of the Mutation Story
What questions did you need to research in order to create your Mutation Story?
At first I just searched progeria and then later on to narrow the search and get more details I searched things such as, what genetic mutation causes progeria?, and what its like living with progeria.
What New familiar Digital tools did you try to use as you worked through this project?
I mainly used google, and google images, but I also used the Genetics home reference website which I thought was reliable. As I worked through this project I would find pages that I thought to be reliable and I would bookmark them to use later.
What was the process you used to investigate the topic?
At first I just did a general search of progeria and then later on to narrow the search and get more details I searched things like what genetic mutation causes progeria?, and what its like living with progeria and then branched off from there by writing down the information I thought was useful in a notebook and copying that down into my story.
How did you verify and cite the information you found?
I would look at the question I was trying to answer then I would look through a couple websites to see if they all had common information.
How did the process of completing this challenge go? What could you Have done better?
I think that the process went fairly well for me and I found that it was fun learning about my mutation and writing the story. I think what I could have done better was present my story in a more engaging way like a PowerPoint or Prezi, and to write in a more interesting way.