My Mutation Project: Proteus Syndrome

Proteus Syndrome is where a person, usually noticeable in 6-12 months, has an overgrowth of bones and skin.

Part 1: Mutation Story

1.What happened to you as a gene?

I’m a gene called AKT1 and I’m not a dominant or recessive gene. This disorder is congenital, which means I can be noticed at birth, or a few months after. Since Proteus Syndrome in not inheritable is cannot be passed down from the parent to their offspring. I, however am a protein that controls cell growth like a switch.

2.What caused your mutation?

It is unknown what caused my mutation, but The cause of the disorder is a mosaic mutation or a mosaic gene alteration in AKT1. Which means change in the varied codes and instructions occurring in genes, which affects only some cells in the body, and not all of the cells. That why only some parts of the body are effected.

3.What effects did the gene mutation have on your host’s body?

It affected my hosts body by vision loss, seizures, and intellectual disabilities. Also affecting their body by long face, outside of their eyes pointed down, low nasal bridge, and an open mouth expression.

4.How was the host’s life effected? What was their story?

Many people with Proteus Syndrome don’t live very long, because they have more health risks than normal people. One boy, was just 14 years old when he decided to amputate both of his legs because of Proteus Syndrome. His left hand was growing faster than the other and his legs and stomach were deformed. He developed skin problems and varicose veins, his spine became bent, his hands and feet grew beyond normal proportions and his legs and arms became increasingly deformed. He had surgery to slim his fingers and straighten his twisted legs and feet. But doctors warned the condition was incurable. Despite everything, he remained cheerful. As he got older, it got worse. His legs were stiff, misshapen and constantly painful, 24/7. One day he asked the doctors is he could amputate both his legs, because he was always in pain, and they didn’t work. He decision had risks but he was willing to try. He could die in surgery but, he would amputate his right leg first, and if it was successful, he would do the left as well. The surgery was successful and he stood up on prosthetic legs and loved it, he also bought new clothes and shoes, because he could never wear normal clothes and shoes.

Part 2: Making of Mutation Story

1.What questions did you need to research in order to create your mutation story?

I asked the questions given, but every time i got the same answers, so i just mixed the words around and used some of the words from previous questions. I asked mainly questions like: What caused Proteus Syndrome?/What happens to people with Proteus Syndrome?/ What causes Proteus Syndrome/etc.

2.What new or familiar digital tools did you try to use as you worked through this project?

Youtube, Google Search, Wikipedia

3.What was the process you used to investigate the topic?

I did it question by question, took my time and made sure i did it properly. Went to many websites to be thorough.

4.How did you verify and cite the information you found?

Took the info and tried to explain it in a way i would understand easily, and grasp the information

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

The process was long but i feel like i was thorough, and i could have chosen an easier syndrome because this is a very rare disease.

 

Ask, Acquire, Analyze, Assess

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Analyze-3

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