Questions and Answers
What is the main cause of Marfan syndrome?
Changes in the amount of fibrillin-1 and cell function due to a gene mutation
Which part of the body can Marfan syndrome affect?
Eyes, heart, blood vessels, skin, and lungs
What role does fibrillin-1 protein play in the body?
Helps make elastic fibers in connective tissue and affects the function of transforming growth factor-beta (TGF-beta)
What is the primary impact of Marfan syndrome on tissues throughout the body?
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What is the specific effect of the gene mutation associated with Marfan syndrome?
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What is the cause of Marfan syndrome?
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Which symptom is common in individuals with Marfan syndrome?
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What is a common cardiovascular problem associated with Marfan syndrome?
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Which complication is commonly associated with Marfan syndrome?
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What type of pain is commonly experienced by individuals with Marfan syndrome?
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Study Notes
Marfan Syndrome Overview
- Marfan syndrome is primarily caused by a mutation in the gene that codes for fibrillin-1 protein.
Effects on the Body
- Marfan syndrome can affect various parts of the body, including the heart, blood vessels, eyes, skeleton, and nervous system.
Fibrillin-1 Protein Role
- Fibrillin-1 protein plays a crucial role in the formation of elastic fibers that provide strength and elasticity to connective tissue.
Impact on Tissues
- The primary impact of Marfan syndrome on tissues throughout the body is the weakening of connective tissue, leading to various complications.
Gene Mutation Effect
- The specific effect of the gene mutation associated with Marfan syndrome is the production of abnormal or reduced amounts of fibrillin-1 protein.
Symptoms and Complications
- Tall, slender build is a common symptom in individuals with Marfan syndrome.
- A common cardiovascular problem associated with Marfan syndrome is aortic aneurysm or aortic dissection.
- Eye problems, such as dislocated lenses, are a common complication associated with Marfan syndrome.
- Individuals with Marfan syndrome often experience musculoskeletal pain, particularly back pain, due to spinal abnormalities.
