Wilson's disease occurs when a genetic mutation leads to an accumulation of copper in your body.
How the genetic mutation occurs
The genetic mutation that causes Wilson's disease is most commonly passed from one generation to the next. Wilson's disease is inherited as an autosomal recessive trait, which means that to develop the disease you must inherit two copies of the defective gene, one from each parent. If you receive only one abnormal gene, you won't become ill yourself, but you're considered a carrier and can pass the gene to your children.
How the genetic mutation causes Wilson's disease
The mutation that causes Wilson's disease causes problems with a protein that's responsible for moving excess copper out of your liver.
Your body collects copper from the food you eat during the digestive process. The copper is transported to your liver where liver cells use it for everyday tasks. Most people eat more copper than they need. In these cases, the liver takes what it needs and excretes the rest in bile, a digestive juice made by the liver.
But in people with Wilson's disease, the extra copper doesn't leave your body. Instead, copper builds up in the liver, where it can cause serious and sometimes irreversible damage. In time, excess copper leaves the liver and begins accumulating in and harming other organs, especially the brain, eyes and kidneys.
Sep. 23, 2011
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