Gene or protein deficient in marfan’s syndrome?
## **Core Concept**
Marfan syndrome is a genetic disorder that affects the body's connective tissue. It is characterized by a deficiency in a specific protein crucial for the formation and maintenance of connective tissue. The underlying principle being tested here is the identification of the gene or protein responsible for this condition.
## **Why the Correct Answer is Right**
The correct answer, **Fibrillin-1**, is right because Marfan syndrome is caused by mutations in the **FBN1** gene, which encodes for the protein fibrillin-1. Fibrillin-1 is essential for the formation of elastic fibers found in connective tissue, playing a critical role in the structural integrity of tissues such as the skin, bones, eyes, and blood vessels. The deficiency or malfunction of this protein leads to the characteristic features of Marfan syndrome, including tall stature, long limbs, joint hypermobility, and an increased risk of aortic aneurysms.
## **Why Each Wrong Option is Incorrect**
- **Option A:** This option is incorrect because it does not specify a known gene or protein related to Marfan syndrome.
- **Option B:** This option is incorrect as it does not correspond to the gene or protein associated with Marfan syndrome.
- **Option D:** This option is incorrect because it does not accurately represent the gene or protein deficient in Marfan syndrome.
## **Clinical Pearl / High-Yield Fact**
A key point to remember is that Marfan syndrome is an autosomal dominant disorder, meaning a mutation in one of the two copies of the **FBN1** gene is sufficient to cause the condition. This has significant implications for genetic counseling and the risk of passing the condition to offspring.
## **Correct Answer:** . Fibrillin-1