Diseases of ECM Flashcards Preview

MCBM Exam 3 > Diseases of ECM > Flashcards

Flashcards in Diseases of ECM Deck (58)
Loading flashcards...
1

A large number of hereditary diseases are due to defects in what genes?

ECM component genes

2

Where are most defects found?

In collagen genes

3

What does neutrophil elastase do?

Degrades elastin

4

To which class of enzymes does elastase belong?

Serine proteases

5

How is elastase inactivated?

By alpha1-antitrypsin (alpha1-antiprotease)

6

What type of inhibitor is alpha1-antitrypsin?

Suicide inhibitor

7

What is a serpin?

A sering protease inhibitor

8

From what does alpha1-antitrypsin protect the tissues?

Released serine proteases

9

Emphysema results from a deficiency in what?

Alpha1-antitrypsin

10

What is seen histologically in alpha-1 antitrypsin deficiency?

Advanced panacinar destruction of the lung parenchyma
Accumulation of macrophages
Sever acute and chronic bronchiolitis

11

Marfan syndrome results in what?

Very long limbs
Heart defects
Vascular problems
Retinal detachment
AD with variable expressivity

12

What causes Marfan syndrome?

Fibrillin mutations

13

What are some of the changes that cause Marfan syndrome?

Ca++ binding interactions
Disulfide sites
Hydrophobic packing regions

14

Ehlers-Danlos sydrome (EDS) is a group of how many diseases?

At least 10

15

What are common symptoms of Ehlers-Danlos syndrome?

Structural weaknesses in connective tissues:
-Fragile/hyperextensible skin
-Hypermobile joints

16

Most forms of EDS result from defects in which fibrillar collagens?

I, II, III

17

What is the most severe EDS mutation?

EDS type IV

18

How is EDS passed genetically?

It is autosomal dominant

19

What is the characteristic symptom of EDS type IV?

Overextensible connective tissue

20

Overextensible connective tissue from EDS type IV leads to what?

Arterial rupture (sudden death)
Intestinal perforation
Rupture of uterus during pregnancy or labor
Easily bruised, thin, translucent skin

21

EDS type IV results from what defect?

Mutation in collagen alpha-1 (III) gene

22

How does EDS type IV cause problems?

Causes slow synthesis/defective secretion of collagen
Entire fibril is defective

23

What is the major symptom of EDS types VIIA, B and C?

Dislocation of major joints (hips, knees)

24

What other symptoms are found in EDS types VIIA, B and C?

Hyperextensible, easily bruised skin

25

EDS types VII A and B result from what mutation?

Collagen alpha1 (I) or alpha1 (I) gene

26

What does the alpha1 (I) or alpha2 (II) mutation do?

Eliminates the cleavage site for collagen N-proteinase, so incomplete collagens assemble, forming defective fibrils

27

EDS type VII C is called what?

Dermatosparaxis

28

How is EDS type VII C passed hereditarily?

Autosomal recessive

29

Type C EDS results from what?

Deficiency of collagen N-proteinase, causing skin fragility

30

Osteogenesis imperfecta is a group of how many diseases?

8