Mutation Story of Tay-Sachs Disease
It was a dark and stormy night…I had some hard decisions to make, but I took a leap of faith and divided away from my family. As a young gene would do. He would search for the perfect cell, to make his home. But as I searched, and searched there was no cells that were just quite right for me. I travel further and further into the depths of my host. I approach many different cells but they all reject me. As I search around a little bit more, I see in the distance a bumpy, lumpy, grumpy old cell. Maybe this is my home. As I approach this groggy old cell he moves closer to me with arms wide open, ready to accept me. As I enter my new humble home I think to myself, what a wonderful world.
I look up and around at my new home. I get greeted by the Mitochondria and the Rough ER. They wave and smile while saying “Welcome, 15!” I guess thats my name. As I was wandering around my host, bumping into many other genes I noticed that I was a bit different then the rest. I was a bit dopey, and slower. But as I have had a long day of travelling, I decide to take a nap. I wake up a few seconds later to the Nucleus yelling at me to get to work. I get up, get changed, brush my teeth, and head to work. Immediately as soon as I start my first job… I find a problem. For some reason whenever i try to make Hexosaminidase (protein) it just doesn’t work. That means that if I cant make protein then chemicals called gangliosides build up in the brain, and destroy my host’s brain cells. Now, the parents of my host has passed me this problem so technically its not my fault, and as of right now, I have now way of fixing that. See if only one parent gave me this defect, THERE WOULD BE NO PROBLEM. But because both of them are carriers, it messed up the whooooollllleeee system.
Once all the other cells and mine have almost completed our jobs, we have a growing host. His name is Billy, and he is a new born just like me. Everything seemed completely normal. There were no signs that I had messed up. For about 3 years nothing has really happened with my host. But as Billy grows bigger I start seeing the mistakes I made in the beginning start to pop up. As the months progressed my host became blind, deaf, and unable to swallow. Billy became very weak, and his eyes started to drift apart. Billy would have seizures and he was no longer able to speak words but only make noises. Sadly, as all things come to an end, Billy’s body and mind could no longer keep up. So Billy and I both passes away at the age of 5.
Part 2:
1)To find the information on my mutation I searched many different things such as: What is the cause of Tay-sachs disease, What are common symptoms of Tay-Sachs disease, and When do you first discover when you have Tay-Sachs disease?
2)I used google and the websites it brough up to me, prezi, and other similar powerpoint websites. In prezi i would simply type in tay-sachs and a bunch of presentations with useful information were there for my convenience.
3)I first gathered all of the information and then slowly built my story.
4)i saw the same information repeated on multiple website so i knew i could trust it.
5)If I had more time i could have done a bit more research, and really fully edited and made it better. I could have made my story a bit more in depth and have more facts in it.
Cites:http://www.slideserve.com/merle/tay-sachs-disease
http://www.nhs.uk/Conditions/Tay-Sachs-disease/Pages/Symptoms.aspx