The gene for Wilson&;s disease is on
## **Core Concept**
Wilson's disease, also known as hepatolenticular degeneration, is a genetic disorder characterized by excessive accumulation of copper in the body, particularly in the liver, brain, and other vital organs. This condition is inherited in an autosomal recessive manner. The gene responsible for Wilson's disease plays a crucial role in copper transport and excretion.
## **Why the Correct Answer is Right**
The correct answer involves the identification of the chromosome where the gene for Wilson's disease is located. Wilson's disease is caused by mutations in the **ATP7B gene**, which is responsible for encoding a protein that plays a critical role in regulating the transport of copper in the liver. This gene is located on **chromosome 13**. The ATP7B protein helps in the incorporation of copper into ceruloplasmin and in the excretion of excess copper into the bile. Mutations in the ATP7B gene lead to impaired copper excretion and accumulation, resulting in the clinical manifestations of Wilson's disease.
## **Why Each Wrong Option is Incorrect**
- **Option A:** Chromosome 1 is not associated with Wilson's disease. While chromosome 1 carries many important genes, the ATP7B gene responsible for Wilson's disease is not located here.
- **Option B:** Chromosome 2 is also not the correct location for the Wilson's disease gene. Several genetic disorders are associated with different chromosomes, but Wilson's disease is specifically linked to chromosome 13.
- **Option D:** Chromosome 14 is not the location of the gene for Wilson's disease. Each chromosome carries distinct genes, and for Wilson's disease, the gene is on chromosome 13.
## **Clinical Pearl / High-Yield Fact**
A key clinical pearl for Wilson's disease is the presence of **Kayser-Fleischer rings**, which are copper deposits in the Descemet's membrane of the cornea, often seen in patients with Wilson's disease. Early diagnosis and treatment, such as with penicillamine or zinc acetate, can significantly improve outcomes and prevent long-term damage.
## **Correct Answer:** C.