Diseases of the ECM

Question 1

Most defects of the ECM are in ______ genes.

Answer 1

collagen

Question 2

Name a disease of elastin.

Answer 2

emphysema

Question 3

Which enzyme deficiency results in emphysema?

Answer 3

alpha1-antitrypsin

Question 4

What is the function of neutrophil elastase?

Answer 4

degrades elastin

Question 5

Elastases belong to a class of enzymes called:

Answer 5

serine proteases

Question 6

What is neutrophil elastase inhibited/inactivated by?

Answer 6

alpha1-antitrypsin

aka alpha1-antiprotease or serpin

Question 7

What type of mutations cause Marfan Syndrome?

Answer 7

Fibrilin mutations

Question 8

Name the common symptoms of Marfan Syndrome:

Answer 8

• Extremely long limbs
• Heart defects
• Vascular problems

Question 9

Name the eye-related symptoms of Marfan Syndrome:

Answer 9

• Retinal detachment
• Lens dislocation
• Early glaucoma & cataracts

Question 10

What is the function of alpha1-antitrypsin?

Answer 10

Protects tissues from released serine proteases (e.g., elastase)
“suicide inhibitor!”

Question 11

What type of fibrilin changes cause Marfan Syndrome?

Answer 11

• Ca++ binding interactions
• Disulfide sites
• Hydrophobic packing regions

Question 12

What ECM component is defected in Ehlers-Danlos Syndromes?

Answer 12

Collagen

Question 13

Type ____ collagen defect results in skin hyperextensibility and joint hypermobility in EDS.

Answer 13

V

Question 14

Type ____ collagen defect results in the most severe type of EDS; type IV.

Answer 14

III

Question 15

That are the symptoms of type IV EDS?

Answer 15

• Excessive bruising
• Thin Translucent skin
• Uterine/intestinal rupture

Question 16

Inheritance pattern for Type IV EDS is:

Answer 16

AD

Question 17

Type __ and __ EDS are inherited by AR.

Answer 17

VI and VIIc

Question 18

EDS types ___, ___, and ___ are assosiated with dislocation of joints.

Answer 18

VIIa, b, and c

Question 19

All types of Osteogenesis Imperfecta are due to _______ defect.

Answer 19

Type I collagen

Question 20

What are the general symptoms of OI?

Answer 20

• Blue sclera

- Abnormal scleral thickness and fibril structure

Question 21

Name the eye related symptom of EDS.

Answer 21

Corneal flattening

Question 22

Type I/II EDS are due to this collagen defect.

Answer 22

Type V collagen

Question 23

Type III EDS is due to this type of collagen defect.

Answer 23

Tenascin X

Question 24

Type IV, the most severe type of EDS is due to:

Answer 24

Type III collagen defect

Question 25

Type VI EDS has a ____ inheritance pattern and is due to this collagen defect.

Answer 25

AR; Type VIa, lysyl hydroxylase 1

Question 26

Type VIIa/b EDS are due to this type of collagen defect.

Answer 26

Type I collagen

Question 27

What are the symptoms of type VI EDS?

Answer 27

- Scleral fragility - Rupture of globe - Joint laxity - Muscular hypotonia

Question 28

Type VIIc EDS is due to this protein defect with inheritance pattern of:

Answer 28

procollagen-N-proteinase; AR

Question 29

Type VIIc EDS is more common in farm animals. T/F

Answer 29

True

Question 30

Rank the OI types from most to least severe.

Answer 30

II, III, IV, I

Question 31

Blue sclera is a symptom of which type of OI?

Answer 31

Type I

Question 32

Dz of collagen cross-linking are most commonly due to:

Answer 32

- Lathyrism - Cu++ deficiency - Vitamin B6 deficiency

Question 33

Defects in basement membrane are due to defects genes associated with:

Answer 33

``` collagen alpha-IV chains collagen VIII collagen XVII laminin-5 integrins ```

Question 34

Epidermolysis Bullosa (EB) is characterized by:

Answer 34

dermal-epidermal separation and blister formation after minimal trauma

Question 35

Loss of fxn in EB is caused by:

Answer 35

Deep separation below basement membrane

Question 36

Less severe cases of EB are due to separation at this level:

Answer 36

cell-basement membrane level

Question 37

What are the eye related symptoms of EB?

Answer 37

- corneal clouding | - conjunctival abnormalities

Question 38

It is caused by defects in anchoring fibrils of collagen type VII that help attach basement membrane to underlying stromal CT.

Answer 38

Dystrophic EB

Question 39

What's a common symptom of dystrophic EB?

Answer 39

- Mutilating scarring | - Corneal clouding

Question 40

Junctional Herlitz EB is caused by:

Answer 40

Defects in laminin-5 genes