Genetic Disorders

Question 1

Marfan syndrome

Answer 1

disorder of connective tissues, manifested principally by changes in the skeleton, eyes, and cardiovascular system. Its prevalence is estimated to be 1 in 5000. Approximately 70% to 85% of cases are familial and transmitted by autosomal dominant inheri- tance. The remainder are sporadic and arise from new mutations.

Question 2

Marfan pathogens is

Answer 2

Marfan syndrome results from an inher- ited defect in an extracellular glycoprotein called fibrillin- 1. There are two fundamental mechanisms by which loss of brillin leads to the clinical manifestations of Marfan syndrome: loss of structural support in micro bril rich con- nective tissue and excessive activation of TGF-β signaling. Each of these is discussed below.