Which enzyme is deficient in Marfan’s syndrome?
**Core Concept**
Marfan's syndrome is a genetic disorder that affects the body's connective tissue. It is characterized by a mutation in the FBN1 gene, which codes for fibrillin-1, a protein crucial for the formation of elastic fibers in connective tissue. The deficiency of fibrillin-1 leads to the disruption of elastic fibers, resulting in various clinical manifestations.
**Why the Correct Answer is Right**
The enzyme deficient in Marfan's syndrome is not a traditional enzyme, but rather a protein. Fibrillin-1 is a glycoprotein that serves as a scaffold for the assembly of elastic fibers in connective tissue. The deficiency of fibrillin-1 leads to the accumulation of abnormal elastic fibers, which can cause the aortic root dilatation, aortic dissection, and other cardiovascular complications associated with Marfan's syndrome.
**Why Each Wrong Option is Incorrect**
* **Option A:** This option is incorrect because it refers to a different genetic disorder, known as Ehlers-Danlos syndrome, which is characterized by a deficiency of collagen.
* **Option B:** This option is incorrect because it refers to a different enzyme, known as lysyl hydroxylase, which is involved in the cross-linking of collagen fibers.
* **Option C:** This option is incorrect because it refers to a different protein, known as elastin, which is involved in the formation of elastic fibers in connective tissue, but is not deficient in Marfan's syndrome.
**Clinical Pearl / High-Yield Fact**
Marfan's syndrome is a classic example of a disorder that affects the body's connective tissue, highlighting the importance of fibrillin-1 in maintaining the integrity of elastic fibers. A thorough understanding of this protein's role in connective tissue formation is essential for diagnosing and managing patients with Marfan's syndrome.
**Correct Answer:** None of the above, as the question is incomplete. However, if we assume the correct answer is the one related to fibrillin-1, it could be: Fibrillin-1.