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MCBM Exam 3 > Diseases of ECM > Flashcards

Diseases of ECM Flashcards

1
Q

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

A

ECM component genes

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2
Q

Where are most defects found?

A

In collagen genes

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3
Q

What does neutrophil elastase do?

A

Degrades elastin

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4
Q

To which class of enzymes does elastase belong?

A

Serine proteases

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5
Q

How is elastase inactivated?

A

By alpha1-antitrypsin (alpha1-antiprotease)

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6
Q

What type of inhibitor is alpha1-antitrypsin?

A

Suicide inhibitor

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7
Q

What is a serpin?

A

A sering protease inhibitor

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8
Q

From what does alpha1-antitrypsin protect the tissues?

A

Released serine proteases

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9
Q

Emphysema results from a deficiency in what?

A

Alpha1-antitrypsin

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10
Q

What is seen histologically in alpha-1 antitrypsin deficiency?

A

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

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11
Q

Marfan syndrome results in what?

A 
Very long limbs
Heart defects
Vascular problems
Retinal detachment
AD with variable expressivity
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12
Q

What causes Marfan syndrome?

A

Fibrillin mutations

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13
Q

What are some of the changes that cause Marfan syndrome?

A

Ca++ binding interactions
Disulfide sites
Hydrophobic packing regions

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14
Q

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

A

At least 10

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15
Q

What are common symptoms of Ehlers-Danlos syndrome?

A

Structural weaknesses in connective tissues:

  • Fragile/hyperextensible skin
  • Hypermobile joints
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16
Q

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

A

I, II, III

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17
Q

What is the most severe EDS mutation?

A

EDS type IV

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18
Q

How is EDS passed genetically?

A

It is autosomal dominant

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19
Q

What is the characteristic symptom of EDS type IV?

A

Overextensible connective tissue

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20
Q

Overextensible connective tissue from EDS type IV leads to what?

A

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

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21
Q

EDS type IV results from what defect?

A

Mutation in collagen alpha-1 (III) gene

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22
Q

How does EDS type IV cause problems?

A

Causes slow synthesis/defective secretion of collagen

Entire fibril is defective

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23
Q

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

A

Dislocation of major joints (hips, knees)

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24
Q

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

A

Hyperextensible, easily bruised skin

25
Q

EDS types VII A and B result from what mutation?

A

Collagen alpha1 (I) or alpha1 (I) gene

26
Q

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

A

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

27
Q

EDS type VII C is called what?

A

Dermatosparaxis

28
Q

How is EDS type VII C passed hereditarily?

A

Autosomal recessive

29
Q

Type C EDS results from what?

A

Deficiency of collagen N-proteinase, causing skin fragility

30
Q

Osteogenesis imperfecta is a group of how many diseases?

A

8

31
Q

What characterizes osteogenesis imperfecta?

A

Ready occurrence of multiple fractures, leading to bone deformities

32
Q

What does defective type I collagen lead to in the eye?

A

Blue sclera

33
Q

What is type I osteogenesis imperfecta?

A

Type I collagen is normal, but there isn’t enough of it

34
Q

What does type I osteogenesis cause?

A

Easily fractured bones
Loose joints
Blue sclera

35
Q

Which type of Type I oseogenetsis imperfecta causes dentinogenesis imperfecta?

A

Type IB

36
Q

What causes type IB osteogenesis imperfecta?

A

Mutation in collagen alpha2 (I) gene

37
Q

What does Ehlers-Danlos syndrome type IV cause in the mouth?

A

Excessive bleeding of soft tissues, reduced healing

*Doesn’t affect the teeth (usually)

38
Q

What does EDS type VIII cause in the mouth?

A

Periodontal defects

Severe bleeding on brushing

39
Q

What do deficiencies in cross linking cause?

A

Weak blood vessels
Incorrect bone formation
Demineralization

40
Q

What are the most common cross-link deficiency diseases?

A

Lathyrism

Copper deficiency

41
Q

Lathyrism can come from regular consumption of what?

A

pea seeds

42
Q

What characterizes lathyrism?

A

Spine deformities
Demineralization of bone
Dislocation of joints
Aortic aneurysms

43
Q

What causes lathyrism?

A

Beta-aminopropionitrile - a potent irreversibel inhibitor of lysyl oxidase

44
Q

Inhibition of lysyl oxidase by beta-aminopropionitrile causes what?

A

Blockage of cross-linking causing reduced fibril stability

45
Q

Why does copper deficiency affect cross-linking?

A

Lysyl oxidase required copper as a co-factor

46
Q

A copper deficiency primarily affects what?

A

Skin - becomes loose and wrinkled

47
Q

Other than lack of dietary copper, what else can cause copper deficiency?

A

Two rare X-linked diseases causing defects in copper metabolism

48
Q

What is implicated as the defective gene causing dentinogenesis imperfecta type II?

A

Dentin sialoprotein

49
Q

What are symptomes of dentinogenesis imperfecta type II?

A

Irregular dentin formation
Blue, gray or violet teeth
-may be opalescent
Easily chipped enamel due to defective dentinoenamel junction

50
Q

Inherited defects in basement membranes are caused by what collagens?

A

VII
XVII
Laminin5
Integrins

51
Q

What is epidermolysis bullosa (EB)?

A

Hereditary blistering disease

52
Q

How is the severity of EB determined?

A

By the depth of layer separation that occurs

53
Q

What causes dystrophic EB?

A

Defects in anchoring fibrils that help attach basement membrane to underlying stromal connective tissue (collagen VII)

54
Q

What does dystrophic EB lead to?

A

Mutilating scarring

55
Q

What causes recessive junctional EB?

A

Defects in collagen alpha1 (XVII) gene

56
Q

What does recessive junctional EB lead to?

A

Separation within skin basement membrane
Blistering
Cavities due to enamel hypoplasia and tooth pitting
Failure of teeth to erupt

57
Q

What is caused by recessive EB junctional Herlitz?

A

Extensive blistering of skin and mucous membranes

Neonatal death

58
Q

What causes recessive EB junction Herlitz?

A

Defects in laminin 5 genes

MCBM Exam 3 (9 decks)

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