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MCBM EXAM 4 > Diseases of the ECM > Flashcards

Diseases of the ECM Flashcards

1
Q

Most defects of the ECM are in ______ genes.

A

collagen

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2
Q

Name a disease of elastin.

A

emphysema

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3
Q

Which enzyme deficiency results in emphysema?

A

alpha1-antitrypsin

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4
Q

What is the function of neutrophil elastase?

A

degrades elastin

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5
Q

Elastases belong to a class of enzymes called:

A

serine proteases

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6
Q

What is neutrophil elastase inhibited/inactivated by?

A

alpha1-antitrypsin

aka alpha1-antiprotease or serpin

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7
Q

What type of mutations cause Marfan Syndrome?

A

Fibrilin mutations

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8
Q

Name the common symptoms of Marfan Syndrome:

A
  • Extremely long limbs
  • Heart defects
  • Vascular problems
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9
Q

Name the eye-related symptoms of Marfan Syndrome:

A
  • Retinal detachment
  • Lens dislocation
  • Early glaucoma & cataracts
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10
Q

What is the function of alpha1-antitrypsin?

A

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

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11
Q

What type of fibrilin changes cause Marfan Syndrome?

A
  • Ca++ binding interactions
  • Disulfide sites
  • Hydrophobic packing regions
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12
Q

What ECM component is defected in Ehlers-Danlos Syndromes?

A

Collagen

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13
Q

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

A

V

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14
Q

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

A

III

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15
Q

That are the symptoms of type IV EDS?

A
  • Excessive bruising
  • Thin Translucent skin
  • Uterine/intestinal rupture
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16
Q

Inheritance pattern for Type IV EDS is:

A

AD

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17
Q

Type __ and __ EDS are inherited by AR.

A

VI and VIIc

18
Q

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

A

VIIa, b, and c

19
Q

All types of Osteogenesis Imperfecta are due to _______ defect.

A

Type I collagen

20
Q

What are the general symptoms of OI?

A
  • Blue sclera

- Abnormal scleral thickness and fibril structure

21
Q

Name the eye related symptom of EDS.

A

Corneal flattening

22
Q

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

A

Type V collagen

23
Q

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

A

Tenascin X

24
Q

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

A

Type III collagen defect

25
Q

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

A

AR; Type VIa, lysyl hydroxylase 1

26
Q

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

A

Type I collagen

27
Q

What are the symptoms of type VI EDS?

A
  • Scleral fragility
  • Rupture of globe
  • Joint laxity
  • Muscular hypotonia
28
Q

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

A

procollagen-N-proteinase; AR

29
Q

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

A

True

30
Q

Rank the OI types from most to least severe.

A

II, III, IV, I

31
Q

Blue sclera is a symptom of which type of OI?

A

Type I

32
Q

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

A
  • Lathyrism
  • Cu++ deficiency
  • Vitamin B6 deficiency
33
Q

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

A 
collagen alpha-IV chains
collagen VIII
collagen XVII
laminin-5
integrins
34
Q

Epidermolysis Bullosa (EB) is characterized by:

A

dermal-epidermal separation and blister formation after minimal trauma

35
Q

Loss of fxn in EB is caused by:

A

Deep separation below basement membrane

36
Q

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

A

cell-basement membrane level

37
Q

What are the eye related symptoms of EB?

A
  • corneal clouding

- conjunctival abnormalities

38
Q

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

A

Dystrophic EB

39
Q

What’s a common symptom of dystrophic EB?

A
  • Mutilating scarring

- Corneal clouding

40
Q

Junctional Herlitz EB is caused by:

A

Defects in laminin-5 genes

MCBM EXAM 4 (9 decks)

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