Diseases and Fibronectin

Question 1

Ehlers-Danlos Syndrome Type IV

Answer 1

most serious, tendency for spontaneous rupture of arteries of the bowel reflecting abnormalities in type III collagen

Question 2

Ehlers-Danlos Syndrome Type VI

Answer 2

due to lysyl hydroxylase deficiency, marked joint hypermobility and tendency to ocular rupture

Question 3

Ehlers-Danlos Syndrome Type VIIC

Answer 3

due to procollagen N-proteinase deficiency causing formation of abnormal thin, irregular collagen fibrils, joint hypermobility

Question 4

Alport syndrome

Answer 4

group of genetic abnormalities affection the structure of TYPE IV COLLAGEN FIBERS, hematuria and eventually develop end-stage renal disease due to renal basal membrane abnormality

Question 5

Scurvy

Answer 5

affects the structure of the collagen and is due to vitamin C deficiency, bleeding gums, subcutaneous hemorrhages, poor wound healing, deficiency of prolyl and lysyl hydroxylase activity

Question 6

Williams syndrome

Answer 6

genetic disease of Elastin, deletions in elastin gene have been found in 90% of subjects, it is a developmental disorder affecting connective tissue and the CNS (mutations effecting the synthesis of elastin probably play a causative role in the supravalvular aortic stenosis found in this condition)

Question 7

Marfan syndrome

Answer 7

genetic disease of fibrillin, autosomal dominant disease affecting CT, tall and long digits with hyperextensibility of the joints, cardiovascular problems (due to mutations in fibrillin gene)

Question 8

Fibronectin

Answer 8

soluble glycoprotein, found in large amt in ECM, a dimmer, joined by disulfide bones near terminal, binds to fibronectin-receptor, Y-shaped