Inheritance of “Wilsons disease ” is
**Question:** Inheritance of "Wilsons disease" is
A. Autosomal Recessive
B. Autosomal Dominant
C. X-linked Recessive
D. Mitochondrial
**Correct Answer:** B. Autosomal Dominant
**Core Concept:**
Wilsons disease is a rare genetic disorder characterized by copper accumulation in the liver, brain, and other organs. It is caused by mutations in the ATP7B gene, which encodes a protein involved in copper transport and excretion.
**Why the Correct Answer is Right:**
Wilsons disease follows an autosomal dominant inheritance pattern (A2). This means that an affected individual has a 50% chance of passing the disease on to each of their offspring regardless of sex. In an autosomal dominant pattern, one normal allele is sufficient to ensure normal health. In the case of Wilsons disease, a person with one mutated allele will express the disease symptoms, while a person with two normal alleles will be a carrier but usually without symptoms.
**Why Each Wrong Option is Incorrect:**
A) Autosomal Recessive (A1) is incorrect because a person with one mutated allele would not express the disease symptoms, which is not the case in Wilsons disease.
C) X-linked Recessive (A3) is incorrect because it relates to genetic disorders affecting males predominantly, while Wilsons disease affects both males and females.
D) Mitochondrial (A4) is incorrect because Wilsons disease is caused by mutations in the ATP7B gene on chromosome 13, not related to mitochondrial dysfunction.
**Why the Correct Answer is Right:**
Autosomal Dominant inheritance allows carriers (individuals with one mutated allele) to pass the disease to their offspring. This pattern is suitable for Wilsons disease because it is caused by a single gene mutation, and a person with one mutated allele can develop the disease.
**Clinical Pearl:**
Understanding the inheritance pattern of genetic disorders like Wilsons disease is crucial to predict the risk of transmission to offspring and provide appropriate genetic counseling. It helps healthcare providers to inform affected individuals and their family members about the possibility of the disease in their children and offer testing for carrier status, prenatal diagnosis, or preimplantation genetic diagnosis.