Wilson’s disease. By Luka Mladenovic
Part 1 – Mutation Story.
Usually the things my body eats have a little bit of copper in them. It only really needs about 0.75 mg but from the foods it chose to eat, it normally takes in about 1-2 mg which is a bit over so the body I am in had excess copper.
90% percent of copper that enters me ussually enters the bile, where it ends up at fecal copper. And the other 10% is left out through the urine my body produces.
What I do as a disease is create a defect where I keep the Excess copper in this body and keep it there, and I deposit it in various tissues. I also combine with oxygen to create a compound that is pretty good at damaging tissue.
So the liver in this body I am in has hepatocyte cells. And normally, I have a part of the cell in me called ATP7B2. It is super super important but it is in the first way that it binds with another part of the cell called Apoceruloplasmin and that part of the cell is responsible of carrying 95% of copper in the blood. And all the other copper gets put into vesicles when they package them off.
Now here’s where I come in. I make it do there is a defect in the very important ATP7B. So that means I just disabled any copper from being transported into the blood and vesicles. So instead the copper builds up and starts to produce free radicals all inside the cell. And eventually all that copper builds up and destroys that cell. And I’m doing that all one by one.
As soon as the cell breaks, all that loose copper enters the blood supply. From there it goes to other tissues and organs such as the brain.
And now the things I do start to have serious neurological symptoms. If it goes to basal ganglia, it causes movement disorder a lot like my friend “Parkinson’s disease.” If it gets to the cerebral cortex, it can be toxic and lead to cell death in that area. You can tell I am in the person if their eye has a copper storage.
I do a nasty thing to the body, and all by just one chemical.
My thoughts on whether this is a defect or a good mutation.
Although a lot of this is very bad, since all the copper leaves the cell, a lot of it leaves through the urine more than usual.
The bad things about it are. The constant brain damage and the possibility of causing even more diseases in the brain.
Enlarged liver and spleen.
Rental disease which damaged proximal tubule.
And hemolytic anemia which causes direct damage to red blood cells.
I’d say after all I’ve been hearing about his disease; I think it is definitely a defect. There really are no benefits of having it and all the stories and side effects and damage to all the parts of your body are terrible. There are treatments to it though, one called penicillamine which binds the copper with penicillamine to make it easier to excrete in urine.
Zinc also does the same.
Liver transplants might be needed.
So once again, a very interesting mutation but a very nasty one too. Very nice to learn about it and what it does to the human body.
Any more questions?
What percent of people does this affect? – Around 1 in every 30,000 people. It is very rare.
Does it occur in just humans or animals too? – No it is a mutation that only happens to humans.
Do you have a higher chance of dying with this? – Not usually. If treated at the right time and early it is a mutation everyone can live with.
Part 2 – The making of the mutation story.
- I am pretty happy that I didn’t need much. On the Wikipedia there was a linked video on everything I needed to know about the disease and it have very useful facts to go with it. The only time I used questions was on another website to find the life expectancy.
- I think I used slightly new tools. I am very used to looking up about something and taking notes by reading what is on the page. But this time, since someone was telling me about it, I understood in a whole new way and I’m glad that’s the way I did it.
- The process was easy and very effective. I would play the video on my computer which was very detailed, and from there, I would have my phone open with me, typing what I thought to be the most useful information I could absorb from what he was saying.
- I verified it in a different way. I looked at the video first, then, I looked at about 3 different websites and all the information about the disease looked the same to me so I trusted it. Also, the person that was showcasing the mutation was a very intelligent college student.
- To be completely honest I felt like my process went very well. I used the tools give to me and used them efficiently. I worked to the best of my ability and followed all the criteria needed. I feel like I worked hard and most likely couldn’t have done too much better.
Sources:
https://www.niddk.nih.gov/health-information/liver-disease/wilson-disease
https://en.wikipedia.org/wiki/Wilson%27s_disease
www.osmosis.org