What is the gene product for Marfan Syndrome?

• A. LDL receptor
• B. Fibroblast growth factor receptor-3
• C. Fibrillin-1
• D. Huntingtin

Answer: (C)

Marfan Syndrome is a genetic disorder that primarily affects the connective tissues in the body. The gene responsible for Marfan Syndrome is the FBN1 gene, which codes for the protein fibrillin-1. Fibrillin-1 plays a critical role in forming the elastic fibers within connective tissue, allowing for proper strength and elasticity.

Individuals with Marfan Syndrome often display symptoms such as long limbs and fingers, cardiovascular issues, and problems with vision, which stem from the dysfunction of the connective tissues due to the lack of adequate fibrillin-1. The presence of the defective gene product ultimately leads to the characteristic features associated with the syndrome. This connection is essential to understanding how the condition impacts the body.

In contrast, other options pertain to different conditions or functions: the LDL receptor is involved in cholesterol metabolism, the fibroblast growth factor receptor-3 is associated with skeletal development and disorders like achondroplasia, and huntingtin is the protein implicated in Huntington's disease. Therefore, fibrillin-1 is the appropriate gene product related to Marfan Syndrome.