In marfan syndrome, the defect is in –
Correct Answer: Fibrillin I
Description: Ans. is 'a' i.e., Fibrillin I Marfan syndromeo Marfan syndrome results from inherited defect in an extracellular glycoprotein fibrillin - 1 on chromosome -15.o It has autosomal dominant inheritance,o Pathogenesiso Defect in fibrillin affects the elastic recoil of extracellular connective tissue.Elastic fibres consist of a central core made up of elastin, surronded by a peripheral network of microfibrils that consists largely fibrillin.Defect in fibrillin causes defective function of elastic fibres.Microfibrils (containing fibrillin) are mainly distributed to Aorta, ligaments of joint and ciliary zolules of lens - So, in marfan syndrome these tissues are primarily affected.
Category:
Pathology
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now