Mutation Story – Progeria

Mutation Story

I started as a negative gene mutation in the cell of a little girl named Hayley Okines.  I affect Lamin A, a protein that is used to make the nucleus of a cell stable.  Scientists think that I cause the nucleus to be very unstable and very deformed.  Little Hayley’s doctor noticed her ageing skin, hair loss and joint stiffness, and she was diagnosed with Progeria.  I tend to affect patient’s hearts, making them have heart problems, and killing them most often with strokes and heart related diseases.  Usually people who have Progeria pass away between the ages of 8 and 21, but the average is 13.  Hayley, and many others with Progeria have to go to the doctor’s all the time for check-ups and heart-checks.  Hayley’s parent’s never know whether they’re going to wake up and not have their little girl anymore.  Unfortunately, last year Haley Okines was home from being treated at the hospital for pneumonia, she passed away at seventeen with her family close by.  2015-04-04_new_8349725_I1

 

For my research, I typed in key words like “progeria” and “fast ageing”, which got me to a whole bunch of medical sites that listed accurate information.  I needed to research how Progeria affects the body, as well as how it starts as a mutation.  Another way I researched information was watching a documentary.  I watched the full documentary about Hayley Okines, and I learned a ton of information about Progeria.  First, I watched some of the documentary to get a taste of the life of someone with progeria, but I didn’t understand some of the vocabulary, so I looked it up.  By the end of this assignment, I know a lot more about Progeria than I did before.  I think this assignment was fairly easy, since I had already heard about Progeria from my mom.  I think I could have possibly  done better research, and gone into further detail.

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