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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
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
31
What characterizes osteogenesis imperfecta?
Ready occurrence of multiple fractures, leading to bone deformities
32
What does defective type I collagen lead to in the eye?
Blue sclera
33
What is type I osteogenesis imperfecta?
Type I collagen is normal, but there isn't enough of it
34
What does type I osteogenesis cause?
Easily fractured bones Loose joints Blue sclera
35
Which type of Type I oseogenetsis imperfecta causes dentinogenesis imperfecta?
Type IB
36
What causes type IB osteogenesis imperfecta?
Mutation in collagen alpha2 (I) gene
37
What does Ehlers-Danlos syndrome type IV cause in the mouth?
Excessive bleeding of soft tissues, reduced healing | *Doesn't affect the teeth (usually)
38
What does EDS type VIII cause in the mouth?
Periodontal defects | Severe bleeding on brushing
39
What do deficiencies in cross linking cause?
Weak blood vessels Incorrect bone formation Demineralization
40
What are the most common cross-link deficiency diseases?
Lathyrism | Copper deficiency
41
Lathyrism can come from regular consumption of what?
pea seeds
42
What characterizes lathyrism?
Spine deformities Demineralization of bone Dislocation of joints Aortic aneurysms
43
What causes lathyrism?
Beta-aminopropionitrile - a potent irreversibel inhibitor of lysyl oxidase
44
Inhibition of lysyl oxidase by beta-aminopropionitrile causes what?
Blockage of cross-linking causing reduced fibril stability
45
Why does copper deficiency affect cross-linking?
Lysyl oxidase required copper as a co-factor
46
A copper deficiency primarily affects what?
Skin - becomes loose and wrinkled
47
Other than lack of dietary copper, what else can cause copper deficiency?
Two rare X-linked diseases causing defects in copper metabolism
48
What is implicated as the defective gene causing dentinogenesis imperfecta type II?
Dentin sialoprotein
49
What are symptomes of dentinogenesis imperfecta type II?
Irregular dentin formation Blue, gray or violet teeth -may be opalescent Easily chipped enamel due to defective dentinoenamel junction
50
Inherited defects in basement membranes are caused by what collagens?
VII XVII Laminin5 Integrins
51
What is epidermolysis bullosa (EB)?
Hereditary blistering disease
52
How is the severity of EB determined?
By the depth of layer separation that occurs
53
What causes dystrophic EB?
Defects in anchoring fibrils that help attach basement membrane to underlying stromal connective tissue (collagen VII)
54
What does dystrophic EB lead to?
Mutilating scarring
55
What causes recessive junctional EB?
Defects in collagen alpha1 (XVII) gene
56
What does recessive junctional EB lead to?
Separation within skin basement membrane Blistering Cavities due to enamel hypoplasia and tooth pitting Failure of teeth to erupt
57
What is caused by recessive EB junctional Herlitz?
Extensive blistering of skin and mucous membranes | Neonatal death
58
What causes recessive EB junction Herlitz?
Defects in laminin 5 genes

MCBM Exam 3 (9 decks)

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