Wilson disease

Causes

What gene change causes Wilson disease?

Wilson disease is an inherited disorder caused by changes or variants in the ATP7B gene. The ATP7B gene helps produce a protein involved in distributing copper throughout the body from the liver called copper-transporting ATPase2. The copper-transporting ATPase2 protein is vital to the body's ability to remove extra copper; however, in patients with Wilson disease, the transport protein malfunctions when disease causing changes or variants occur in the ATP7B gene. Individuals with Wilson disease are not able to excrete excess copper and, as a result, copper builds up in the liver, brain, kidneys, and eyes. If left untreated, Wilson disease causes very serious health problems that can lead to liver failure, brain damage, and death. There have been more than 300 different disease-causing variants identified in the ATP7B gene that cause Wilson disease.

Wilson disease is passed through families in an autosomal recessive pattern, meaning that for an individual to have the disease they must inherit a nonworking ATP7B gene from each parent. Therefore, two nonworking copies of the ATP7B gene are required for an individual to have Wilson disease. Carriers do not have Wilson disease but they have a 50% chance of passing on the nonworking ATP7B gene to each of their children. If each parent is a carrier of the mutation for Wilson disease, there is a 25% chance a child will get two normal genes, a 50% chance a child will get one disease-causing gene variant but be an unaffected carrier, and a 25% chance a child will have Wilson disease.

References
Show More Content Like This

More Causes Content

Are the high levels of copper in patients with Wilson disease a predisposition for the disease?

Are the high levels of copper in patients with Wilson disease a predisposition for the disease?

Having high levels of copper is a sign that someone may have Wilson disease. Wilson disease is caused by mutations in the ATP7B. The ATP7B gene helps produce a protein involved in distributing copper throughout the body from the liver called copper-transporting ATPase2. The copper-transporting ATPase2 protein is vital to the body's ability to remove extra copper; however, in patients with Wilson disease, the transport protein malfunctions when mutations occur in the ATP7B gene. Individuals with Wilson disease are not able to excrete excess copper and, as a result, copper builds up in the liver, brain, kidneys, and eyes. If left untreated, Wilson disease causes very serious health problems that can lead to liver failure, brain damage, and death.

References

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me