Question

Given below are two statements:

Statement (I): Wilson's disease occurs due to accumulation of copper in liver and brain.
Statement (II): It occurs due to defect in gene coding for copper binding ATPs that is required for excretion of copper from liver cells.

In light of the above statements, choose the most appropriate answer from the options given below.

• A. Both Statement (I) and Statement (II) are correct.
• B. Both Statement (I) and Statement (II) are incorrect.
• C. Statement (I) is correct but Statement (II) is incorrect.
• D. Statement (I) is incorrect but Statement (II) is correct.

Hint:

Associate Wilson's disease with:
- Copper accumulation.
- Liver and brain toxicity (with Kayser-Fleischer rings in the eye).
- Defect in the *ATP7B* gene (copper-transporting ATPase).

Answer 1

The Correct Option is A

Step 1: Understanding the Concept:
Wilson's disease is an autosomal recessive genetic disorder that impairs normal systemic copper transport, leading to toxic intracellular accumulation.

Step 2: Detailed Explanation:
1. Statement (I): In Wilson's disease, the body cannot eliminate excess dietary copper.
This results in copper accumulation in organs, primarily damaging the liver (causing hepatitis and cirrhosis) and the brain (causing neuropsychiatric symptoms). Thus, Statement (I) is correct.
2. Statement (II): The disease is caused by mutations in the *ATP7B* gene.
This gene encodes a copper-transporting P-type ATPase ("copper binding ATPase") expressed in hepatocytes.
This protein is responsible for transporting excess copper into the bile for excretion and incorporating copper into ceruloplasmin.
A defect in this gene blocks the excretion of copper from liver cells, leading to cellular toxicity. Thus, Statement (II) is correct.

Step 3: Final Answer:
The correct option is 1, which corresponds to both statements being correct.