Part 1-Mutation Story:
I am the APP gene found in my host, Mary’s Body. I give instructions to the body on how to make Amyloid precursor protein. I don’t know why but it’s what I’m built to do. I build the protein using amino acid isoleucine. Fragments of the protein are then sent to her brain. I don’t know why or how this happens. But I do it because it’s the only thing I can do.
“Sorry, I forgot to pick him up.” Mary, my host says to the babysitter. Embarrassed that she left her son with the babysitter for the third time. She headed to her car George laughing. “It’s okay Mommy it happens” Mary knew it wasn’t going to be okay. “Mrs. Smith.” The babysitter calls to my host. Mary turns around. “You also forgot your car keys.” Mary confused takes the car keys and heads to her car. “Mommy I need to be buckled up.” George says as Mary is about to start the car. She sighs, “I’m sorry George I’m just not having a good day.” George laughs. “It’s okay mommy.
The week continued on the same pattern. Mary was trying her best to be cautious on what she said. She knew what was coming and so did Brian her husband. The moment it got too much was when Mary was sick in her bed watching TV. “Who are you” Mary asked her son. George, only 4 years old, confused replied with a laugh “Mommy, I’m George your
son.” “I’ve never met a George.” Mary isn’t joking I can feel it. She is forgetting her son just as her Mom forgot her. “Daddy” George calls. “Mommy forgot who I am” Brian rushes in taking George from the room. He knows what they dreaded is here. Brian calls an ambulance to take Mary to the hospital, she was resistant the whole way there and Brian is hiding his tears as he leaves George with a babysitter.
The doctors run some tests on Mary, even though they know from her last checkup that it’s here. I feel when they poke the needle into her and take blood. It tickles. A few hours later the doctors come back with the results for Brian. He sits next to Mary’s bed. Mary groggily sits up. “Where am I?” She asks. “Who are you” She asks Brian. A tear rolls down Brian’s cheek. The doctor starts to talk to Brian. I listen attentively. “There is a problem with the APP gene.” Thats me. “The APP’s role as a gene is too provide a way for the body to make Amyloid precursor protein which scientists research say help bond cells together.” What does this have to do with me? “It is rare, but this gene has a mutation.” I’m mutated? “In Maggie’s body, the APP gene has changed a building block for this protein and interfered with enzymes in the protein leading to the replacement from amino acid valine to amino acid isoleucine. It has a protein position of 717. Because of this mutation, one of the genetic code letters has been altered.” What I’m doing isn’t normal? “With the alteration and mutation, fragments of this rare protein begin to clump in her brain forming hallmark plaques, which is how early onset Alzheimers is formed.
“This gene has formed in your wife’s brain because of hereditary reasons, the early onset version of Alzheimers Disease is hereditary. It comes from her mom as she had the same disease. Families with this disease have flaws on chromosomes 1 and 14 and are passed down genetically.” It’s all my fault. I come from her mom so it’s my fault. Brian nods. He knew it was coming. When Mary’s mom died she had refused testing. She said it was hereditary and she would get it too.
For the rest of Mary’s life I live in her body. The instructions I give to her body are “mutated” as the doctors put it. But there is nothing I can do. I was unaware of it but now i realize parts of me are being sent to her brain to clump up and kill her memory completely. 8 years have gone by and as Mary lays in bed with Brian and 12 year old George. “Who are you?” Mary asks George. “I’m George.” He replies for the millionth time, “Who’s George?” she asks.
Alzheimers patients don’t die from the actual disease but what the disease affects. For example malnutrition because the patient neglects to eat or believes that he or she has already ate. They can also die from infections such as pneumonia. The Alzheimers risk gene is more common in females then males. There are two types, the type that Mary had was Familial the other type is a risk gene that usually occurs later in life, towards ages 60 and 80. Familial occurs between ages 30 and 40. Alzheimers is the leading cause to Dementia.
Part 2-The making of the mutation story:
To investigate this topic I first started by typing in questions that I found really related to the topic would help to write a story about my life as a gene of an Alzheimers patient. I asked What mutations are found in Alzheimers?, What is a common age for early onset Alzheimers?, How do people die from Alzheimers?, Brain damage on Alzheimers patients?, What genes are mutated when Alzheimers occurs? How do people receive this genes? I really had to read into these websites to find out the behaviour of an Alzheimers patient and the role of the gene so that I could be the gene and talk about the roles that I had. I used citation machine, a site I learned about when working on my SSEP project in science, in order to cite my work and verify the dates so that the information wasn’t too far out dated. I also used storyboardthat.com a familiar digital tool that I learnt about in socials class in order to create characters to move along the story. Pinterest was another website I used to find images that would help me and my readers understand the disease. The process of completing the challenge went really well, I was able to learn about the disease and how it affects the lives of people and what gene causes them. I feel like the only thing that could have gone better would have been to have chosen a disease that already had more information because the APP gene still doesn’t have a full explanation as scientists have not figured it out. I would have liked to have more information to work with.
Citations:
Alzheimer’s Disease: Genetics and Risk Factors. (2015, April 25). Retrieved December 11, 2016, from http://www.webmd.com/alzheimers/guide/alzheimers-genetic?page=2
Grimaldi, D. M., S., I., & 5. (2008). Why Do People Die from Alzheimer’s Disease? Retrieved December 11, 2016, from https://www.agingcare.com/articles/if-alzheimer-s-is-a-disease-of-the-memory-how-do-people-die-from-it-133297.htm
Grimaldi, D. M., S., I., & 5. (2008). Why Do People Die from Alzheimer’s Disease? Retrieved December 11, 2016, from https://www.agingcare.com/articles/if-alzheimer-s-is-a-disease-of-the-memory-how-do-people-die-from-it-133297.htm
Miller, G. (2012, July 12). Gene Mutation Protects Against Alzheimer’s. Retrieved December 11, 2016, from http://www.sciencemag.org/news/2012/07/gene-mutation-protects-against-alzheimers
Photo citations
Cartoons created by Ashiana using storyboard that
U.S. National Library of Medicine. (2016, December 6). Alzheimer disease – Genetics Home Reference. Retrieved December 10, 2016, from https://ghr.nlm.nih.gov/condition/alzheimer-disease
Imagerie Médicale. (n.d.). Retrieved December 11, 2016, from https://www.pinterest.com/explore/imagerie-médicale-919860055351/
Any Genetic Counselors or professionals involved in … (n.d.). Retrieved December 11, 2016, from https://www.bing.com/cr?IG=C4ABEDD3B1944DAEB6E41E5215738405&CID=14EA1187E3A56C0C00E6186EE2946DD7&rd=1&h=47r6bRYbgOhZ6xqOcgRZbPaV17lCuhM1qxcaVMObybw&v=1&r=https://www.reddit.com/r/genetics/comments/244ki2/any_genetic_counselors_or_professionals_involved/&p=DevEx,5041.1
(n.d.). Retrieved December 11, 2016, from http://www.genecards.org/cgi-bin/carddisp.pl?gene=APP
Do the Anti-Alzheimer’s Effects of Grape Seed Extract (GSE) Start in the Gut? Your Gut Bugs Could Save Your Brain. (n.d.). Retrieved December 11, 2016, from http://suppversity.blogspot.ca/2015/02/do-anti-alzheimers-effects-of-grape.html