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What is Gene or protein deficient in marfan's syndrome? and explain in detail?
Ans. is 'a' i.e., Fibrillin I Marfan syndrome :? Marfan syndrome results from inherited defect in an extracellular glycoprotein fibrillin -1 on chromosome - 15. It has autosomal dominant inheritance. Pathogenesis 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 Aoa, ligaments of joint and ciliary zolules of lens - So, in marfan syndrome these tissues are primarily affected.