Genetics and Molecular Biology Research

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Wilson Disease

Wilson's disease is a genetic disorder in which excess copper builds up in the body. Symptoms are usually related to the brain and liver. Symptoms associated with the liver include nausea, weakness, fluid build up in the abdomen, swelling of the legs, yellow skin and pain. Symptoms associated with the brain include tremors, muscle weakness, difficult speech, personality changes, anxiety and seeing or hearing things that others do not. Wilson's disease is caused by a mutation in the Wilson gene protein (ATP7B) gene. This protein transfers excess copper to the bile, where it is released from waste products. in order to be affected, they must inherit a modified copy of the form from both parents.

 

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