Mutation Story – Hutchinson-Gilford Progeria Syndrome

Part 1: Mutation Story

I am the gene that caused Charlotte to have Hutchinson-Gilford Progeria Syndrome.

I’m the LMNA gene, and I’m supposed to be responsible for producing the protein lamin A (a protein which helps with the structural support of the nucleus), but unfortunately while I was being replicated, one of my cytosine’s was switched with thymine and I mutated. With this small change, lamin A was not produced properly and instead made progerin, which causes the nucleus to become unstable and have an abnormal shape. This instability causes premature aging, which is diagnosed as Progeria.

 

Hutchinson-Gilford Progeria Syndrome is the condition that causes sped up aging of children. It is usually diagnosed within the first few years in a child’s life, with the first symptoms of poor physical growth and scleroderma (hard patches of skin). Within a few years of age, more symptoms appear, such as no hair, no body fat, shallow recessed jaw, and a limited amount of growing. Later on in their life symptoms such as aged looking skin, stiff joints, brittle bones, atherosclerosis, heart attacks and strokes start to appear.

Although kids with Progeria do have some of the same symptoms of aging as elderly people, the one thing that doesn’t get affected is their mental health. They have a normal mental health and are usually very happy and smart children.

Most children with HGPS pass away in their teens from a heart attack or a stroke. I feel bad that I’ve given Charlotte this awful syndrome, but I really had no control over it.

 

Charlotte was diagnosed with HGPS when she was only a year old, after they noticed she wasn’t growing and she didn’t have any hair. The doctors told her parents that she was one of only 250 kids around the world with this rare syndrome, and that she will most likely not live past her teens.

Charlotte had a hard life because she had very brittle bones and aching joints, making it hard for her to play sports and other activities. She also felt a bit out of place, since she had no hair, large veins visible, wrinkled skin, and a small head compared to her body size, but she kept positive and happy and made everyone around her have a better mood. She had friends and did well in school, and liked to do everything all the other kids liked to do.

When Charlotte was 14, she started to experience greater problems, such as her eyesight going down, and atherosclerosis (plague building up inside your arteries). It started to get harder for her to do normal things, and she was going to the hospital all the time for check-ups on all different parts of her.

A little while before her 15th birthday, it was decided that Charlotte was to temporarily move in to the hospital with her family, after she became very weak. Unfortunately, a few days later, she passed away from a heart attack after her artery got a block in it. As hard as it was for her family, they knew this day would be coming eventually, and they made sure that the short life she had was the best life a little girl would ever want.

 

Part 2: The Making of Mutation Story

1. What questions did you need to research in order to create your mutation story?
   • What is Hutchinson-Gilford Progeria Syndrome?
   • What causes Hutchinson-Gilford Progeria Syndrome?
   • What is scleroderma/atherosclerosis/osteoporosis?
   • What is LMNA?
   • What are the symptoms of HGPS?
2. What new or familiar digital tools did you try to use as you worked through this project?

• I first looked at the questions I needed to answer, and then typed in words like “Hutchinson-Gilford Progeria Syndrome” or “HGPS cause” into google and read about it so that I got an idea about what it was about, and took notes from it. From there I checked many different websites to see if they came up with the same explanations, to see if what I was reading was accurate.

• I verified the information I found by checking to see if different websites had the same information. I also looked at the progeria research website a lot, since the website for the syndrome would most likely have the most accurate information.
• These were some websites I looked at:

http://www.progeriaresearch.org/

https://en.wikipedia.org/wiki/Progeria

http://www.progeriaresearch.org/about_progeria/

http://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome

https://www.genome.gov/11007255

5. How did the process of completing this process go? What could you have done better?

• I thought my process of completing this project went well for me. I was able to find all the information I needed and I was able to understand it all, as well as being interested in what I was researching. Looking back, I think I could have looked deeper at some of the symptoms or learned about some more children’s stories who have this syndrome to help me understand more about it.