Short Description of very rare disease called "WILSON DISEASE" 300% POWER UP
What is ATP7B Gene?
First of all I want to describe this gene which is ATP7B what it is and what function it has for our body? ATP7B Gene gives instructions to our body to make or produce a protein called Copper-transporting ATPase 2. A group of protein which transport metals in and out of cells by using energy stored in Adenosine triphosphate ATP. This protein found in liver and in small amount in kidney and brain too. Plays and important role to transfer coper in different parts of our body and it is also important for the removal of excess copper from the body.
What happen when mutation or disruption occurs in this gene?
This type of changes alter the 3-dimension structure of protein or disturb it's stability and prevent copper transporting ATPase from functioning normally
What is Wilson disease?
It is a rare genetic disorder that's prevent your body from getting rid of extra copper then this extra copper build up in your liver and in your other organs which is eyes and brain also collect these excess copper and then damage your organ.
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Signs and Symptoms
Wilson is present at birth but signs and symptoms don't appear untill the copper build up in organs like liver eyes and brain.
1-Fatigue
2- Lack of appetite
3- Abdominal pain
4- Golden brown eyes discoloration(Keyser-Fleischer ring)
5-Problem in speech
6- Problem in Swallowing
7- physical Co-ordination
8- Uncontrolled movements
9- Difficulty in balancing body
10- Hyperactive
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Complications
1-Scarring of liver.
2-Liver failure
3-Neurological problem
4-kidney problem
5- Psychological problem
6- Blood Problem
Diagnose
1- Liver biopsy
2- Urine and blood tests
3- MRI
4-CT Scan
5- Eye examination
6- Genetic testing
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