Mutation Story

Part 1:

Hi, I am living inside this amazing and wonderful girl Genevah, she is an average 12 year old girl, with a special mutation. She has Differentially expressed in chondrocytes protine 2 or for short, DEC2 mutation. I am the problem, but I am not a bad problem. Genevah is kind of lucky for the most part because she has me. She doesn’t need to sleep for as long as the average person.

Every night Genevah lays in her bed and tosses thoughts around in her head because she has nothing else to do. If she goes to bed early she will wake up way to early. But if she goes to bed really late she can wake up at a good time. Here is an example of when I was not very helpful to Genevah, one evening she went to her friends house for a sleepover. They were having a great time but by 11pm all of her friends were exhausted and ready to go to sleep but Genevah wasn’t. She knew she could still be up and wide awake for a good 2 hours. She was worried because she doesn’t stay overnight other places too often. She kept telling herself I’m used to it, I will fall a sleep soon. These are some of the stress problems I make for Genevah. But here is an example of when I was very useful in Genevah’s life. Last month Genevah and her family went on vacation to the Bahamas. Their flight left at 8am so the whole family woke up around 4:30am so they could get to the airport on time. Genevah’s whole family was exhausted from getting up “early” and they all slept on the plane. Genevah pretty well woke up at regular time and was ready for the day with lots of energy.

Part 2:

My questions included: What is DEC2 mutation and what does it stand for? What effects does DEC2 mutation have on someone? What has to happen to the DNA to make DEC2? How rare is DEC2?

I used google and Wikipedia for starting information and to find links to other sites but a few new websites for research I used included: http://omim.org/entry/606200       http://www.highlighthealth.com/sleep-disorders/need-for-less-sleep-associated-with-gene-mutation/

I had to start out by finding information about the mutation and what happens, what it does and where is comes from. Then how it affects people.

I think I could have researched harder and before I started I should have made sure I understood all the DNA and the way they worked and when something goes wrong what happens, because I think it made this project a lot harder to do. I liked the mutation I chose because it was different because I was generally a good and helpful mutation unlike most of the other ones we heard.

 

 

 

 

 

 

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