key term - Marfan syndrome

Definition

Marfan syndrome is a genetic disorder that affects the body's connective tissues, which provide support and structure to various organs and tissues. This condition can lead to a range of complications, primarily involving the cardiovascular, skeletal, and ocular systems.

5 Must Know Facts For Your Next Test

1. Marfan syndrome is caused by mutations in the FBN1 gene, which is responsible for the production of the fibrillin-1 protein.
2. The abnormal fibrillin-1 protein leads to the weakening and improper development of connective tissues throughout the body.
3. Individuals with Marfan syndrome often have a tall, slender build with long limbs, fingers, and toes, as well as other skeletal abnormalities.
4. Cardiovascular complications, such as aortic aneurysms and dissections, are the leading cause of morbidity and mortality in Marfan syndrome.
5. Early diagnosis and management, including regular monitoring and prophylactic treatment, are crucial to prevent life-threatening complications in individuals with Marfan syndrome.

Review Questions

• Explain how the genetic basis of Marfan syndrome relates to the patterns of inheritance.
  • Marfan syndrome is an autosomal dominant disorder, meaning that a single copy of the mutated FBN1 gene inherited from one parent is sufficient to cause the condition. This pattern of inheritance is characterized by a 50% chance of an affected parent passing the disorder to their offspring. The autosomal dominant nature of Marfan syndrome also explains why the condition can manifest in multiple generations within a family, as the mutated gene is passed down from one generation to the next.
• Describe the relationship between the abnormal fibrillin-1 protein and the development of connective tissue abnormalities in Marfan syndrome.
  • The FBN1 gene is responsible for the production of the fibrillin-1 protein, which is a crucial component of the extracellular matrix and plays a vital role in the proper structure and function of connective tissues. In Marfan syndrome, mutations in the FBN1 gene lead to the production of an abnormal fibrillin-1 protein, which compromises the integrity and stability of the connective tissues throughout the body. This disruption in the connective tissue architecture is the underlying cause of the various manifestations of Marfan syndrome, including skeletal, cardiovascular, and ocular abnormalities.
• Evaluate the importance of early diagnosis and management in individuals with Marfan syndrome, and explain how this relates to the patterns of inheritance and the genetic basis of the disorder.
  • Early diagnosis and management are crucial in Marfan syndrome due to the progressive and potentially life-threatening nature of the condition, particularly the cardiovascular complications. Given the autosomal dominant inheritance pattern, individuals with Marfan syndrome have a 50% chance of passing the mutated FBN1 gene to their offspring. This means that early detection and intervention are essential not only for the affected individual but also for their family members who may be at risk. By identifying the genetic basis of Marfan syndrome and implementing regular monitoring and prophylactic treatment, healthcare providers can help prevent or delay the onset of serious complications, such as aortic aneurysms and dissections, which are the leading causes of morbidity and mortality in this disorder. The patterns of inheritance and the genetic underpinnings of Marfan syndrome highlight the importance of a comprehensive approach to managing this condition, including genetic counseling and family screening.

Related terms

Connective Tissue:

The structural framework that provides support and organization to various organs and tissues in the body, including bones, ligaments, tendons, and blood vessels.

Autosomal Dominant Inheritance: A pattern of genetic inheritance where a single copy of the mutated gene from one parent is sufficient to cause the disorder.

Fibrillin-1: A protein that is a major component of the extracellular matrix and is crucial for the proper structure and function of connective tissues.