Wilson's disease is a genetic disorder caused by a faulty ATP7B protein, leading to copper buildup in the body.
Understanding Wilson's Disease
Wilson's disease (WD) is a rare inherited condition that primarily affects the liver and brain. It is caused by mutations in the ATP7B gene. This gene provides instructions for making the ATP7B protein. The ATP7B protein plays a vital role in copper metabolism within the body.
The Role of ATP7B
The ATP7B protein is mainly found in the liver. Its function is to:
- Help the liver excrete excess copper into bile.
- Incorporate copper into ceruloplasmin, a protein that carries copper in the blood.
When the ATP7B gene is mutated, it leads to a non-functional or less efficient ATP7B protein. Consequently, copper accumulates in the body, leading to various health problems.
How Copper Buildup Affects the Body
With impaired ATP7B function:
- Copper builds up: Copper, instead of being removed or used in the body, begins to accumulate, primarily in the liver, brain, and eyes.
- Reduced ceruloplasmin production: The synthesis of ceruloplasmin is impaired, which is a key diagnostic marker for Wilson's disease.
- Tissue damage: High levels of copper are toxic and can cause damage to the affected organs.
Key Features of Wilson's Disease
| Feature | Description |
|---|---|
| Cause | Mutation in the ATP7B gene |
| Protein affected | ATP7B protein |
| Primary impact | Disrupted copper metabolism |
| Result | Accumulation of copper in the body |
| Organs most affected | Liver, brain, and eyes |
| Associated problems | Reduced ceruloplasmin synthesis, and organ damage related to copper buildup. |
Treatment and Management
Wilson's disease is manageable with early diagnosis and treatment. Treatments typically include medications to remove excess copper from the body (chelating agents) and sometimes medications to block copper absorption. Regular monitoring is needed to manage the condition.
