Huntington Disease
Part 1
Hi, my real name is Huntingtin gene, but I go by the nickname HTT gene. I live with my fellow genes in my lovely host’s body, Katy. She is a 30 year old mother, living with her baby boy, Jackson, who is nine months old and her husband Carl. For many years I’ve been living in her body, watching her create a new family with her new born.
First, let me introduce myself. I provide instructions for making a protein called Huntingtin. This protein plays an important role in the neurons in the brain which is essential for the normal development before birth. Huntingtin is found in many of the body tissues but mostly in the brain. Its job is sending chemical signals from the brain to the body, transporting materials and protecting the cells from self-destruction.
I contain a DNA segment which is known as CAG trinucleotide repeat. In other words, I am made up of a series of three DNA building blocks, cytosine, adenine and guanine that appears multiple times in a row.
One day, I was having a conversation with my friend Eddy, another gene, who wanted to know what happens during genetic mutation.
“Well first of all there’s two types of mutations, the first one is gene mutation which changes a single gene and the other is chromosomal mutations that changes in whole chromosomes. During genetic mutation, the DNA sequence changes permanently. It could also differ in size. DNA can undergo mutations in the sequence of bases, A, C, G, and T and during DNA replication if errors are made or not corrected in time. It can also happen from exposure to environmental factors such as smoking, sunlight and radiation. There’s also insertion and deletion. Insertion is when one base is inserted from the DNA sequence and deletion is when one base is removed from the DNA sequence.” I responded.
http://www.zo.utexas.edu/faculty/sjasper/images/17.23.gif
“Wow, that’s very interesting, I’ll tell everyone what I learned today!”
As Eddy left to chatter with other friends nearby, I started working on my daily tasks of making the protein Huntingtin. Hours later, I feel myself expanding. What’s happening to me? I then realize it’s my CAG segment repeating. My CAG segment normally repeats 10 to 35 times but as I continue to elongate, I split into smaller toxic fragments then attach to the neurons. Why is this happening? I wasn’t supposed to brake into pieces. But then I realized, my CAG segment repeated 36 to more than 120 times. I repeated more than I should have.
As I attach to the neurons, it starts disrupting the cells. This then affects the regions of the brain that help coordinate movement, control thinking and emotions. I suddenly hear Katy’s cry of pain. As she tries to walk to the kitchen, she stumbles and falls to the ground. She then gets up and places her work on her desk, but her hands are twitching and shaking constantly and she can’t seem to focus on her work. She gives up and walks towards the fridge to fetch a glass of water. As soon as she grabs her drink, she drops the glass and begins to cry. She’s crying non-stop and I know the reason why. I have mutated to cause the Huntington disease. Unfortunately my gene mutation is hereditary. I suddenly hear Carl running down the stairs holding her close and placing her head on his shoulder as tears run down her cheek.
As time goes by, I’ve been watching the dreadful and painful life of Katy. She’s been having trouble swallowing and needing help to walk. She must take medication to reduce her emotions. She doesn’t seem to speak to others due to the pain in her throat. I can tell she’s trying to be strong, for her husband and for her baby. Eventually this disease will sadly lead to the death of Katy and I am the reason why.
Part 2
1)Questions:
- What is Huntington disease?
Huntington disease is a neurodegenerative disorder and causes brain cells to malfunction and die. When one single gene called the HTT gene produces huntingtin, the CAG in the HTT gene repeats more than 36 to 120 times and splits into chemical fragments affecting the cells of the brain. This then affects the movements of the body, loss control of emotions and ability to concentrate and remember certain things.
- What are the symptoms of Huntington disease?
The symptoms of this disease includes troubles with movement control such as walking, trouble speaking, swallowing, uncontrollable emotions such as depression, anger, frustration, memory loss, can’t concentrate, twitching, consistent movements and anxiety.
- Is there a cure for this disease?
There is no cure for this disease although for the symptoms, doctors give medication to reduce the pain. Scientists have tried to find a way to cure the disease but only found a way to help with the function of the movement with the body. This disease is deadly as it affects your brain which causes many problems.
- What did the mutation do to the host?
When the elongated gene splits into chemical fragments that attaches to the neurons affecting the cells that affects the regions of the brain which helps coordinate movement as well as control of thinking and emotions. The host then gets different symptoms as the brain is very important for the body.
- What is function of the gene?
The function of HTT gene is to provide instructions for making a protein called Huntingtin. This protein sends chemical signals from the brain to the body, transports materials and protects cells from self-destruction.
- At what age do you get Huntington disease?
The average is 35 to 50 years old but 6% of juvenile HD which affects children and teenagers. Most people die after 20 years. This disease is passed on to generations, one copy of each parent. A parent with a defective Huntington gene could pass along the defective copy of the gene or the healthy copy. Each child in the family has a 50 percent chance of inheriting the gene that causes the genetic disorder. There are early stages, intermediate stages and advanced stages but people normally have intermediate stages.
2) What new or familiar digital tools did you try to use as you worked through this project?
Some digital tools I used while writing the story is Youtube. I watched youtube videos of understanding how Huntington disease is caused. This helped me better understand what was happening because I’m more visual. I also found other websites that had a variety of topics of Huntington disease. Instead of using websites that are commonly used such as Wikipedia and Google, I found some websites that explained information into shorter simpler paragraphs with images that helped with comprehension. I also used some blogs of other’s to understand the experience of someone living with the disease. Having him update on how he/she is doing throughout the days are truly inspiring and I learned more information about this disease.
Blog-Surviving Huntington disease
3) What was the process you used to investigate the topic?
The process I used while I researching for the topic is to not research questions. I found that when you shorten the question you’re asking and type in the key words rather than typing a full question, it shows more results. I had a variety of websites when I just typed in what I was looking for and avoided asking specific questions. I even found more information not even linked to my question which lead me in to developing my information.
4) How did you verify and cite the information you found?
I verified the websites I used by going on many different websites. When I go through different websites, I make sure that the information is not different and that they all say the same thing. I also made sure to avoid using websites that are constantly changed such as Wikipedia. Wikipedia normally has people change the info and sometimes it can be wrong, but I do use it if needed and just research through other websites to see if they say the same thing.
5) How did the process of completing this challenge go? What could you have done better?
The process was a little difficult as the disease I chose didn’t have much info on the gene during the mutation. I had a hard time developing the story and incorporating facts about the mutation without just throwing it in. What I could’ve done better is I would have chosen another disease that I know someone has so I can interview them and understand more about this disease. It could also help me understand how it feels to live with the disease and experience with that person as I write the story.