[2015] Will Gerbs (BIOTECH Sp 2015): Wilson´s Disease

by raptorkerry
Last updated 6 years ago

Health & Medicine

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[2015] Will Gerbs (BIOTECH Sp 2015): Wilson´s Disease

Wilsons Disease

Wilsons Disease is caused from the buildup of copper in the body. The body usually removes extra copper via the liver. This disease prevents people from filtering copper correctly creating a toxic buildup of copper in major organs.

- Men and Women develop Wilsons at equal rates- About 1 in 35,000 people have Wilsons- The most commen mutation is most prevalent in central Europe though Wilsons is found around the world in every known population-It was discovered in 1912 by Dr. Samuel Wilson

Quick Facts

What is Wilsons?

Symptoms of Wilsons The most commen area that is affected is liver and/or central nervous system.-May include anything from uncontrolled movements to fatigue-Very hard to detect disease beacuse many of the symptoms are commen in other illnesses

Kayser-Fleiacher Rings (copper buildup in the eyes) - Another Symptom of Wilsons

Genetic Info -Wilsons is an autosomal recessive disease -The gene responcible is called ATP7B which has been sequenced -Over 300 genes of ATP7B have been found so far -ATP7B is found on chromosome 13-The ATP7B gene is 106,492 base pairs long

The good new is that Wilsons is very easy to treat and has a 80% survival rate

Interesting Facts 1. About 1 in 100 people are heterozygous carry Wilsons Disease2. Another name for Wilsons disease is hepatolenticular degeneration syndrome3. There are only about 600 people in the United States who have Wilson's Disease

Testing for WilsonsThere are multiple way to screen someone for Wilsons disease including but not limited to:1. Checking family and medical history-looking for family history of Wilsons disease2. Blood Tests-to either check copper in the blood(if you had Wilsons it would be less than normal as all the copper is build up in the organs) or to check the level of ceruloplasim a protein that carries copper3. Urine test for copper

Additional Genetic Information:The main protein which causes Wilsons is ATPase 2. A mutation in the ATP7B gene prevents ATPase 2 from transporting excess copper. This then leads to a toxic buildup of copper in vital tissues and organs.

Another symptom of Wilsons: Wing-beating Tremor


Treatment:There are a few ways to treat Wilsons:1. Medication: Chelating Agents such a trientine which takes copper in the organs and releases it into the bloodstream. This then leads to the kidneys and urination. After this Zinc may be used to block the digestive tracks absorption of copper.2. A change in diet avoiding foods such as shellfish which are high in copper.3. Liver transplant (in severe cases)


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