Marfan’s syndrome is due to defect of?
**Core Concept**
Marfan's syndrome is a genetic disorder that affects the body's connective tissue, leading to problems in various organ systems. The condition is characterized by tall stature, long limbs, and aortic root dilatation, among other features.
**Why the Correct Answer is Right**
Marfan's syndrome is caused by mutations in the FBN1 gene, which encodes for fibrillin-1 protein. Fibrillin-1 plays a crucial role in the formation of elastic fibers found in connective tissue. The defect in the FBN1 gene leads to the production of abnormal fibrillin-1 protein, resulting in the accumulation of microfibrils in the extracellular matrix. This, in turn, disrupts the normal structure and function of connective tissue, leading to the characteristic features of Marfan's syndrome.
**Why Each Wrong Option is Incorrect**
* **Option A:** The defect is not related to the COL3A1 gene, which is associated with a different condition called vascular Ehlers-Danlos syndrome.
* **Option B:** The defect is not due to a deficiency of collagen type I, which is associated with osteogenesis imperfecta.
* **Option C:** The defect is not related to the TGF-β signaling pathway, which is involved in various fibrotic diseases.
**Clinical Pearl / High-Yield Fact**
One of the key features of Marfan's syndrome is the risk of aortic dissection, which is often precipitated by sudden increases in blood pressure. This is why patients with Marfan's syndrome are often advised to avoid heavy lifting, bending, or any activity that may increase their blood pressure.
**Correct Answer: A. Fibrillin-1 protein encoded by the FBN1 gene.**