Mutation Story (Spinal Muscular Atrophy)

Part 1: Story

As new lifeform is created many things can go wrong in development, because of me an accident occurs. When someone is affected by me the SM1 gene is mutated via deletion at exon 7, an exon is a part of a gene that will be apart of the final mature RNA. This causes reduced SMN proteins, but all people with me can still form 10-20% of the normal SMN amount, this results in slow death of motor neuron cells in the anterior horn of spinal cord and the brain. Muscles that need these neurons now have have lower input from the central nervous system.

Image result for what does spinal muscular atrophy affect

~Photo Source~

https://www.togetherinsma.com/content/commercial-us/specialty/sma/caregiver/en_us/home/introduction-to-sma/smn1-gene/jcr:content/mainpar/image.img.full.high.png/1474502697367.png

 

This causes movement to be harder. The host has a very high chance of dying as a baby but luckily mine did not, unfortunately this caused his spine to be quite misaligned.

Image result for spinal muscular atrophy

~Photo Source~ https://images.radiopaedia.org/images/530297/dc57978e6215a356fe38e7ae895f98_gallery.jpg

 

My host also cannot move their legs because of lower input from the nervous system. This causes my host to be in a wheelchair for the rest of his life. I also sometimes lead to early death and my host is no exception, most likely before the age of 20. Type 1 is very severe and will cause death very early in life. Type 2 causes you to need help walking and getting into seated positions, this type causes early death usually before 20. If you have type 3 you will need help later in life but can walk by yourself, type 4 only starts effecting you at about 30 but you won’t require aid to move. My host would be considered to have SMA2/Type 2 “Dubowitz desease” and I onset at about 6-18 months. If you have type 3 you will need help later in life but can walk by yourself, type 4 only starts effecting you at about 30 but you won’t require aid to move. I am incurable.

Image result for spinal muscular atrophy patient

~Photo Source~

http://savannahnow.com/sites/default/files/styles/slideshow__640x360/public/11694722.jpg?itok=k7ejZYpH

The chances of my host having me is 1 in 6000. The only way someone can get me is through their parents. This caused my host to need a wheelchair all their life and weaker muscles. Both his parents were very supportive and help him all his life. Despite this my host seemed pretty happy all his life. I also ended up causing my host to die at 18.

Image result for spinal muscular atrophy

~Photo Source~

http://smasupportuk.org.uk/files/images/Information%20and%20Support%20General/Family%201.png

Part 2:

  1. I had to ask many questions to get the answers I need, a few examples are: “How does spinal muscular atrophy affect the body”, “What causes SMA?” and “What causes SMA”

2) I used google for most of the project but I noticed I kept getting the same source everytime (Medical related .gov sites)

3) First I went to wikipedia to get a basic understanding of this disease, then I laid the pathway for the story (Character attributes, etc.) I then went on to google to ask questions that would help me complete the story

4) I would normally check multiple sources to make sure all the information was the same but in this case I was on .gov sites and I know that they would have the most true information compared to any other site. All my information was from U.S Library of Medicine and was verified by Wikipedia and The National Institute of Neurological Disorders and Stroke

5) I think the process was smooth but I could have done a better job of building the structure of the host’s story but I was really going for a information bases approach.

 

Sources:

https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy

http://www.ninds.nih.gov/disorders/sma/detail_sma.htm

https://en.wikipedia.org/wiki/Spinal_muscular_atrophy

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