Cell-cell/cell-matrix disorders

Question 1

Pemphigus

Answer 1

• a blistering disease

- caused by auto Ab’s to cadherins

Question 2

Glanzmann’s thrombasthenia

Answer 2

-inherited platelet integrin defect

Question 3

Metastatic cancer

Answer 3

-requires up regulation of matrix metalloproteinases

Question 4

menkes disease

Answer 4

-defect in collagen 1 cross-linking

Question 5

goodpasture syndrome

Answer 5

-autoimmune disease in which antibodies attack collagen 4 in the basement membrane

Question 6

alport syndrome

Answer 6

-due to mutations in collagen 4

Question 7

ehler-danlos syndrome

Answer 7

-defects in collagen synthesis and fibril assembly

Question 8

osteogenesis imperfecta

Answer 8

-mutations in collagen 1 gene

Question 9

scurvy

Answer 9

-collagen cross-linking defect due to vitamin C deficiency

Question 10

marfans syndrome

-mechanism detail

Answer 10

• elastin cross linking defect usually due to defective fibrillin
• elastin is a major component in the walls of large arteries and allows for expansion and compression during systole and diastole, respectively
• this is especially true for the aorta
• expansion is accomplished by the elastin molecules straightening out
• fibrillin is responsible for not allowing the wall to stretch too far
• if cross linking is defective than over time the wall will stretch and not reform, creating an aneurism

Question 11

angiogenesis

Answer 11

-the formation of new blood vessels requires MMP’s