Asked by Yamilette Santos on May 07, 2024

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Which genetic disorder is associated with a defect in the elastic connective tissue protein called fibrillin?

A) Marfan syndrome
B) Huntington disease
C) sickle cell disease
D) phenylketonuria (PKU)
E) cystic fibrosis (CF)

Fibrillin

A glycoprotein that is crucial for the formation of elastic fibers found in connective tissue, providing strength and flexibility.

Elastic Connective Tissue

A type of connective tissue that is rich in elastic fibers, providing flexibility and strength to the structures it supports.

Marfan Syndrome

Autosomal dominant genetic disorder of the connective tissue, specifically the fibrillin protein.

  • Acquire knowledge of and pinpoint genetic abnormalities correlated with specific deficits in enzymes or defects in protein configuration.
  • Understand the significance of elastic connective tissue protein fibrillin in genetic disorders.
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Verified Answer

KD
Kevin DonnerMay 12, 2024
Final Answer :
A
Explanation :
Marfan syndrome is caused by mutations in the FBN1 gene that codes for fibrillin, a protein that forms microfibrils in connective tissue. The defect in fibrillin leads to a range of symptoms including tall stature, long limbs, heart problems, and weakened connective tissue in the eyes, joints, and other organs. Huntington disease is a genetic disorder that affects the nervous system, while sickle cell disease, PKU, and CF are caused by mutations in different genes and affect different body systems.