Collagen and Elastin

Question 1

Collagen Type 1

Answer 1

bone, skin, tendon

Question 2

Osteogenesis Imperfecta Type 1

Answer 2

mutation in Type 1 Collagen-
multiple fractures, blue sclera, hearing loss

Autosomal dominant

Question 3

Type 2 Collagen

Answer 3

Cartilage (Car-two-lege)

Question 4

Type 3 Collagen

Answer 4

blood vessels

Question 5

Type 4

Answer 5

Basement Membrane

Question 6

Goodpasture’s

Answer 6

target Type 4 collagen

Question 7

Alport Syndrome

Answer 7

thinning and splitting of the basement membrane -> glomerulonephritis

Question 8

Ehlers Danlos

Answer 8

faulty collagen synthesis

hyperextensable skin, tendency to bleed, hypermobile joints,

Question 9

hydroxylation of proline and lysine

Answer 9

requires vitamin C

Question 10

deficiency with formation of triple helix (procollagen)

Answer 10

osteogenesis imperfecta

Question 11

problems with cross-linking

Answer 11

Ehlers Danlos

Question 12

collagen

Answer 12

organizes and strengthens extracellular matrix

Question 13

elastin

Answer 13

stretchy protein in skin, lungs, large arteries, ligaments,

stretchy because of crosslinking

Question 14

alpha 1 antitrypsin

Answer 14

inhibits elastase, which breaks down elastin

Question 15

emphysema

Answer 15

alpha 1 antitrypsin deficiency
smoking- centri acinar
genetic- pan acinar

Question 16

Marfan

Answer 16

fibrillin defect- protein that forms a sheath around elastin