Part 1: Mutation story, Huntington disease

I’m a gene inside the body of my host and I caused him a disorder called Huntington’s disease. The host didn’t do anything wrong to deserve a bad gene like me, a child with a parent with this disease has a 50% chance of inheriting me. Both men and women have the same amount of risks. There’s a gene called Huntingtin which provides the making of a type of protein, the functions of the protein is unknown but it plays an important role in the nerve cells in the brain.

In my mutation (Huntingtin gene mutation) the thing that causes the disease involves a DNA segment known as CAG trinucleotide repeat. This is a segment made up of a series of 3 DNA building blocks, cytosine, adenine and guanine that repeat multiple times in a row. The amount I am supposed to repeat in the gene is 10-35 times, but sometimes I repeat more than that. In my hosts body I repeated 45 times, any repeats over 35 will almost always develop Huntington’s disease, in this case it was developed.

The increase in the size of my repeats creates an abnormally long huntingtin protein which is not good. When I’m elongated I start to get cut into smaller, toxic fragments that bind together and form in the neurons which disrupts the functions of the cells. In my host’s body these dysfunctions cause death of neurons in certain areas of his brain causing symptoms of Huntington disease.

Fortunately, because my repeats only went up to 45 and they can go up to 120 times, my host didn’t start getting symptoms until their late 40’s, it’s possible to get them as a child. He started to develop symptoms such as emotional turmoil, cognitive loss and physical deterioration, this was diagnosed through a neurological and physical test they took on him. This started to majorly effect his everyday life. As his brain cells where slowly dying off he was less able to control his movement, he couldn’t recall events, make decisions by himself  or control his emotions. He wasn’t himself anymore, all because of me. If I could’ve done something to stop myself from being mutated I would, but it’s all genetics, it wasn’t my choice.

Later on in his life, after years of fighting with this disease, he died. He didn’t die of Huntington’s disease itself but he died of other health complications. He had a happy life before he received this disease, a wife, two kids, but all just because of a mutation gone wrong he was ripped away from this. And now, his two kids have to consistently be worried of the thought that there’s always going to be a 50% chance they will receive this horrible disease.

Part 2: The making of mutation story

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

I researched “How Huntington’s disease is caused?” “Symptoms of Huntington’s disease?” “Mutations in the huntingtin gene?” And then I researched what “CAG trinucleotide repeat” because it’s an important part in this mutation and I didn’t understand it. After research on these four questions I had enough information to write my story.

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

I used google which I was already familiar with and then I used youtube to find and watch videos on the mutation which was new to me because I’ve never used it to help me with research.

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

I researched my four questions I stated earlier in order. I first found the effects of the disease and then I found how the mutation happens itself.

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

I knew the information I found was reliable because it was stated on several different sites I checked.I also made sure each website I used was reliable by checking if there was a date or author. I cited my sources using “easybib.com” which  is a website that I used last year in school and have used it ever since.

Sources cited:

http://www.huntingtonsociety.ca/author/guidedesigner/. “What Is Huntington Disease?” Huntington Society of Canada, 29 Nov. 2016, http://www.huntingtonsociety.ca/learn-about-hd/what-is-huntingtons/

Liou, Stephanie. “HOPES.” HOPES, Stanford, 26 June 2010, web.stanford.edu/group/hopes/cgi-bin/hopes_test/trinucleotide-repeat-disorders/.

“Huntington Disease – Causes, Symptoms, Diagnosis, Treatment &Amp; Pathology ,” director. 14 Sept. 2016, https://www.youtube.com/watch?v=IuSaXiRVqg0

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

Overall I think the process went very well. I organized the tasks in an order which helped to make it easier in the end. Something that I could’ve done differently was organize my notes better.  My notes on my page were staggered which made it complicated to read especially when I was writing my story. Also I should’ve read the criteria in depth before starting because I forgot to save all my sources so I had to go back and find them later on.