Thursday, October 22, 2015

Wilson's Disease
Wilson's disease is a rare inherited disorder that causes too much copper to accumulate in your liver, brain, and other vital organs.  Symptoms typically become conspicuous during the ages of 12 to 23.  Wilson's disease causes a wide variety of symptoms, which causes it to be mistaken for other diseases, and may vary from person to person.  Some symptoms include the following: lack of appetite, fatigue, or abdominal pain; jaundice (the yellowing of the skin and whites of the eyes); a tendency to bruise easily; fluid buildup in the legs or abdomen; problems with speech, swallowing, or physical coordination; and uncontrolled movements or muscle stiffness.  Wilson's disease is inherited as an autosomal recessive trait, and is found on chromosome number 13.  Early onset of the disease may foretell a worse prognosis than later onset.  If the disorder is detected early and treated appropriately, an individual with Wilson's Disease can usually enjoy normal health and a normal lifestyle.  However, if not treated, Wilson's Disease can cause brain damage, liver failure, and death.  The treatment has to be lifelong, too.  Wilson's disease is pretty rare, affecting only 1 in 30,000 individuals.  That gene that Wilson's Disease affects is in the ATP7B gene, which is a part of the 13 chromosome, as mentioned earlier.  This gene provides instructions for making a protein called copper-transporting ATPase 2, which plays a role in the transport of copper from the liver to other parts of the body and when copper is found in excessive amounts, it can be toxic.  Mutations in the ATP7B gene prevent the transport protein from functioning properly.  With a shortage of functional protein, excess copper is not removed from the body.  As a result, copper accumulates to toxic levels that can damage tissues and organs, particularly the liver and brain.
 
 One common symptom of Wilson's disease is the brown ring, which is pointed out by the arrows.  Since many people may not know they have the disease, I wasn't able to find a famous person who possesses the disease.

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