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Pathology > Genetic diseases I > Flashcards

Genetic diseases I Flashcards

1
Q

What are the four categories of AD conditions?

A
  1. Quantitiy or arrangement of large sturctural proteins
  2. Regulatory proteins
  3. Deficiency in proteins that are in short supply
  4. Anti-oncogenes deleteion syndromes
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2
Q

Which AD category is Marfan?

  1. Quantitiy or arrangement of large sturctural proteins
  2. Regulatory proteins
  3. Deficiency in proteins that are in short supply
  4. Anti-oncogenes deleteion syndromes
A

Quantity or arrangement of large structural proteins

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3
Q

Which AD category is Ehlers’ danlos?

  1. Quantitiy or arrangement of large sturctural proteins
  2. Regulatory proteins
  3. Deficiency in proteins that are in short supply
  4. Anti-oncogenes deleteion syndromes
A

Quantity or arrangement of large structural proteins

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4
Q

Which AD category is huntingtons?

  1. Quantitiy or arrangement of large sturctural proteins
  2. Regulatory proteins
  3. Deficiency in proteins that are in short supply
  4. Anti-oncogenes deleteion syndromes
A

Regulator proteins and receptors

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5
Q

Which AD category is neurofibromatosis?

  1. Quantitiy or arrangement of large sturctural proteins
  2. Regulatory proteins
  3. Deficiency in proteins that are in short supply
  4. Anti-oncogenes deleteion syndromes
A

Anti-oncogene deletion

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6
Q

What is reduced penetrance?

A

Not every person who has the gene gets the disease

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7
Q

What is variable expressivity?

A

How well a gene is expressed if have it

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8
Q

What is the genetic defect in Marfans?

A

Missense mutation of FBN I at 15q21.1

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9
Q

What is the protein that is affected in Marfans?

A

Fibrillin I, the glycoprotein constituent of microfibrils (i.e. a component of elastic fibers)

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10
Q

Where is fibrillin I found?

A

Elastic fibers in Aorta
Suspensory ligaments of the lens
Periosteum

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11
Q

How does Marfans cause bone abnormalities?

A

Alteration in CT in periosteum making it more elastic

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12
Q

What is the amino acid change in Marfan?

A

Cys to Gly in the fibrillin protein

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13
Q

What happens to the aorta in Marfans d/t the mutated fibrillin 1?

A

Stiffening of the aortic wall

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14
Q

What happens to the TGF-beta in marfans d/t the mutated fibrillin 1?

A

Increased activity d/t loss of fibrillin

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15
Q

What happens to the inflammation and MMP regulation in marfans d/t the mutated fibrillin 1?

A

Increased inflammation

Increased MMP

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16
Q

What happens to the cell arrangement in marfans d/t the mutated fibrillin 1?

A

Elastolysis

Cell disrray

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17
Q

Is Marfans AD or AR?

A

AD

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18
Q

What are the heart problems seen in Marfans?

A

Mitral valve prolapse

Aortic dissection

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19
Q

Is nearsightedness (myopia) or farsightedness (hyperopia) common in pts with Marfan’s? Why?

A

Nearsightedness d/t degeneration of the lens

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20
Q

What is the lens defect in Marfans?

A

Ectopia lentis– Displace lens

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21
Q

What is dolichostenomelia seen in Marfans?

A

a human condition or habitus in which the limbs are unusually long

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22
Q

What are the two types of chest wall deformities seen in Marfans?

A

Pectus carinatum

Pectus excavatum

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23
Q

What is the back problem seen in Marfans?

A

Scoliosis

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24
Q

What is arachnodactyly, and which AD disease is it characteristic of?

A

a condition in which the fingers are abnormally long and slender in comparison to the palm of the hand.

Marfans

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25
Q

What is the joint issue seen in Marfans?

A

Hypermobility

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26
Q

That are the heart issues seen in Marfans? (4)

A
  1. Mitral valve prolapse (mitral regurgitation)
  2. Dilation of the ascending aorta/Aortic valve incompetence
  3. Cardiomyopathy
  4. CHF
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27
Q

Why is cardiomyopathy seen in Marfans?

A

As the aorta widens, the left ventricle enlarges, and cardiomyopathy ensures

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28
Q

What are the major criteria for diagnosing Marfans? (5)

A
  1. Pectus excavatum/carinatum
  2. Thumb signs
  3. Lens dislocation
  4. AAA
  5. Known mutation
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29
Q

Midsystolic click = ?

A

Mitral valve prolapse

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30
Q

What is mitral valve prolapse, and why is it seen in Marfans?

A

Bulging of the mitral valve back into the atrium

D/t messed up elastic fibers

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31
Q

Type A aortic dissection = ? Type B = ?

A 
A = ascending
B = descending
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32
Q

What is cystic medial degeneration?

A

Disruption of the elastic fibers–seen in AAA found in Marfans

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33
Q

What is the stain that highlight elastic fibers?

A

Silver stain

34
Q

What is the problem with the aorta in Marfans besides dissection? What else does this cause?

A

Aortic root dilation–aortic regurgitation

35
Q

How many of the 11 collagen types can be affected by Ehlers-danlos syndrome?

A

6/11

36
Q

Types I and II of Ehlers-danlos syndrome are characterized by mutations in what genes? What collagen does this code for?

A

COL5A1(2) genes that encode the alpha chain of type V collagen

37
Q

Type IV Ehlers-danlos syndrome is a defect in which gene/collagen?

A

COL3A1 gene, Type III (reticulin)

38
Q

Type V and VI Ehlers-danlos syndrome have deficiencies in what?

A

Lysyl hydroxylase and lysl oxidase, an important enzyme in modifing collagen

39
Q

Type VII Ehlers-danlos syndrome is due to what gene/protein malformation?

A

COL1A1/COL2A1 An amino-terminal procollagen peptidase deficiency, thus cannot turn procollagen into collagen

40
Q

Which tpye of Ehlers-danlos syndrome is the most deadly? Why?

A

Type IV b/c type III collagen is found in all organ systems

41
Q

Which two types of Ehlers-danlos syndrome are AR?

A

IV, and VIIc

42
Q

Which type of Ehlers-danlos syndrome causes kyphoscoliosis?

A

IV`

43
Q

WHich type of Ehlers-danlos syndrome causes vascular problems?

A

IV

44
Q

Type I/II Ehlers-danlos syndrome is due to what gene defect? What does this cause?

A

COL5A1 mRNA reduced

45
Q

What is the problem with type IV Ehlers-danlos syndrome?

A

COL3A gene defect, causing collagen 3 to be unable to leave the ER

46
Q

Type VII Ehlers-danlos syndrome is due to what gene defect? What does this cause?

A

COL1A1/COL1A2 gene defect, causing collagen 1 to not be cleavable

47
Q

What are the histological characteristics of collagen in Ehlers-danlos syndrome?

A

Disorganized collagen

48
Q

Bear claw collagen = ?

A

Type I Ehlers-danlos syndrome

49
Q

What is the skin like in Ehlers-danlos syndrome?

A

Fragile (cigarette paper skin)

50
Q

What are the complication of the skin characteristics in Ehlers-danlos syndrome?

A

Sutures don’t hold well (dehiscence of surgical wounds)

Bleed easily

51
Q

What is the characteristic of the joints of pts with Ehlers-danlos syndrome?

A

Hypermobile, with increased angle between joints

52
Q

What is the Beighton scale for joint hypermobility?

A

various joint hyper mobilityfindings rated 1 if unilateral, 2 if bilateral

53
Q

What is the mutated gene in NF1? Which chromosome is this on? What does this code for?

A

NF1 gene on 17q

Codes for neurofibromin

54
Q

What is the function of neurofibromin?

A

Down regulates p21 ras oncoprotein by deativating ras-GTP to ras-GDP

55
Q

What are the four classic symptoms of NF1?

A
  1. Axillary/inguinal freckling
  2. CALMs
  3. Lisch nodules
  4. Neurofibromas
56
Q

What is the penetrance and expressivity of NF1?

A

100% penetrance, but highly variable expression

57
Q

What is the signal that ras is involved in?

A

GF signalling

58
Q

What are the less common symptoms of NF1? (3)

A

Neurofibromas
Optic gliomas
Learning disabilities

59
Q

True or false: NF1 has been associated with Wilms tumor and rhabdomyosarcoma

A

True

60
Q

What fraction of pts with NF1 have only mild cutaneous involvement?

A

2/3

61
Q

What are the seven diagnotic criteria for NF1?

A
  1. Six or more CALMs
  2. Freckling of the axilla/inguinal area
  3. More than one Neurofibromas
  4. More than two lisch nodules
  5. Optic glioma
  6. Distintive bone lesions
  7. Family member has it
62
Q

What are lisch nodules seen inf NF1?

A

Harmartomas of the iris

63
Q

True or false: neurofibromas can occur anywhere on the body

A

True

64
Q

Where can neurofibromas grow? (2)

A

Skin

Nerve sheaths

65
Q

What is the difference between a neurofibroma and a Schwannoma?

A

Neurofibroma is made up of many different types of, whereas schwannomas are made up solely of Schwann cells

66
Q

Which can be shelled out during surgery: Schwannomas or neurofibromas?

A

Schwannomas

67
Q

Spindle cell morphology can be seen in what AD discussed?

A

NF1

68
Q

What is the tumor that NF1 pts are predisposed to?

A

Malignant peripheral nerve sheath tumors (MPNSTs)

69
Q

What is the gene in NF2? Which chromosome is this on? What protein does this code for?

A

22q
NF2 gene
Merlin/schwannomin

70
Q

What are the path/symptoms of NF2? When does these present?

A 
Acoustic neuromas (hearing loss/tinnitus)
3rd decade of life
71
Q

What is the function of merlin/schwannomin?

A

ras suppressor

72
Q

What triggers merlin protein normally?

A

CD44 binding

73
Q

What are the two major malignancies seen in NF2?

A

Bilateral vestibular schwannomas

Meningiomas

74
Q

What is the diagnostic criteria for NF2?

A

Bilateral vestibular schwannomas
OR
One vestibular schwannoma with another -oma

75
Q

What is the pathology of NF2? When does these present?

A 
Acoustic neuromas (hearing loss/tinnitus)
3rd decade of life
76
Q

What are the symptoms of NF2? (4)

A

Hearing loss
Tinnitus
HA
Balance disturbance

77
Q

What do the acoustic neuromas look like grossly?

A

Bunches of grapes (just like staph aureus!!)

78
Q

What are the two histological patterns of vestibular schwannomas?

A

Antoni A and B

79
Q

Bunches of collagen (antoni A or B)?

A

Antoni A

80
Q

Mixed CT (antoni A or B)?

A

B

81
Q

What are verocay bodies? What are these found in?

A

Palisading tumor cells with CT between them

Found in NF2 vestibular schwannomas

Pathology (32 decks)

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