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oral histology > Human GEnetics of Amelogenesis Imperfecta > Flashcards

Human GEnetics of Amelogenesis Imperfecta Flashcards

1
Q

why is Enamel unique

A

High mineral contenet

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2
Q

what are Proteins used for in Enamel

A

Enamel formation but not for the final product

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3
Q

what cleaves enamel structural proteins and when

A

Proteinase soon after secretion into the matrix

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4
Q

where do Enammel Cristals grow longer

A

At the enamel surface

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5
Q

where do Enamel crystals grow thicker

A

At the depth

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6
Q

Stages of Dental Enamel formation

A

Secretory stage

Maturations

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7
Q

what happens in the Secretory stage

A

Ameloblasts secrete enamel matrix to fill the full enamel thickness

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8
Q

what happens in the Maturation stage

A

Degradation of enamel matrix and mineralization

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9
Q

what do Ameloblasts develop in the secretory stage to help with secretion of enamel matrix

A

trianglular shape at the distal end that remains in the enamel shrinking until it is squeezed out of existance

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10
Q

How does the Triangle shape at the distal end of the Ameloblast serete enamel matrix

A

Only at one side of the triangle

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11
Q

Before the Secretory phase, what happens to the Ameloblasts

A

The dissolve the basement membrane and form tight junctions

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12
Q

what happens during the maturation stage

A

The basemement membrane reforms and the Ameloblasts go through ruffled and smooth phases

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13
Q

Roll of the Ruffled Ameloblasts

A

Secrete proteases and acidify to remove the enamel matrix

also help with Calcium binding

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14
Q

Junction of Ruffled Ameloblasts

A

Tight distal junctions

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15
Q

Junction of Smooth Ameloblasts

A

Leaky distal Junctions

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16
Q

Roll of Smooth Ameloblasts

A

Allow the degraded proteins to diffuse and leave

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17
Q

what is the space between rod and interrod enamel

A

Sheath space

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18
Q

The triangular process of the Ameloblasts

A

Tomes Process

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19
Q

What are the faces of Tomes Process

A

Secretory and Nonsecretory faces

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20
Q

what are some steps ameloblasts seem to do in the maturation stage to remove acid

A

Stop, remove acid by having the tight junctions get leaky, and then continue

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21
Q

Why do Hunter Schreger bands form

A

Result of a section phenomenon through two enamel rod directions

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22
Q

How do rods travel to the surface

A

Rods bend, go up and over, annd then go up again

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23
Q

why do rods go in a curvey pattern

A

allows rods to pack tightly at the enamel surface where the enamel area is greater than the dej
-occlusal surface force dissipated cervically and laterally

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24
Q

where do rods locate due to hunter-schreger bands

A

Laterally and occlusally from its point of origin

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25
Q

how do hunger schreger bands form around the cusp

A

Form in circular arrangements

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26
Q

How does Enamel formation start location wise around the tooth

A

At the cusp tip then proceeds cervically

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27
Q

what kind of enamel foes the Hunger-schreger bands form

A

Gnarled enamel

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28
Q

Cohorts of Ameloblasts sequentially form what type of enamel rods

A

Gnarled enamel rods

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29
Q

Junctions between the Cohorts are responsible for

A

Striae of Retzius

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30
Q

Perikymata are the surface extension of what

A

Lines of Retzius

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31
Q

what is the Neonatal line

A

An enlarged line of Retzius due to the stress of birth

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32
Q

Types of Ameloblasts

A

Pre-ameloblasts
Secretory ameloblasts
Maturation ameloblasts
Reduced ameloblasts

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33
Q

Proteins secreted in the secretory stage

A 
Structural enamel proteins (amelogenin, Ameloblastin, Enamelin)
Enamel Proteinase (matrix Metalloproteinase-20)
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34
Q

Proteins secreted in the Maturation stage

A

Enamel Proteinase (kallikrein-4)

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35
Q

what is Amelogenesis Imperfect

A

GRoup designation for a variety of inherited conditions displaying enamel malformations in the absence of non-dental phenotypes

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36
Q

Result of Hypoplastic Amelogenesis Imperfect

A

Thin enamel

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37
Q

What is the Defect in Hypoplastic Amelogenesis Imperfecta

A

Secretory stage defects

38
Q

Result of Hypopmaturation Amelogenesis IMperfect

A

Soft enamel

39
Q

Results of Hypocalcified Amelogenesis IMperfecta

A

Soft and Thin enamel

40
Q

What is the defect in Hypomaturation Amelogenesis IMperfecta

A

Maturation stage defects

41
Q

what does an Amelogenin mutation result in

A

AI on the X chromosome

42
Q

where is Ameloblastin gene located

A

On chromosome 4

43
Q

where is Enamelin gene located

A

On chromosome 4

44
Q

roll of Amelogenin

A

regulate crystallite spacing

45
Q

where does Ameloblastin accumulate

A

In the sheath space

46
Q

Where is Enamelin found

A

Intact enamelin is restricted to the mineralization front

47
Q

What structural enamel prtein is no Glycosylated

A

Amelogenin

48
Q

what makes up 90% of the structural enamel proteins

A

Amelogenin

49
Q

what are the Enamel proteinases

A 
Matrix Metalloproteinase (MMP20)
Kallikrein-4 (KLK4)
50
Q

when is MAtrix Metalloproteinase released

A

Secretory stage

51
Q

roll of MAtrix Metalloproteinase

A

Processes enamel proteins

52
Q

when is Kallikrein-4 released

A

Transition/maturation stages

53
Q

what does KAllikrein-4 do

A

Degrades enamel matrix

54
Q

what kind of Disease does Amelogenin mutations lead to

A

X linked Hypoplastic AI

55
Q

what chromosomes are the human Amelogenin genes fround on

A

X and Y chromosomes

56
Q

what happens if the Amelogenin genes are knocked out from protein sectretion

A

the DEJ(ameloblasts extensions in the predentin) looks the same as the wild-type but with no detectable protein secretion

57
Q

what happens to the Collegen as a resultl of the Amelx gene being knocked out

A

Initial ribbons that would form on collagen mineral are short, less organized and elongate slowly
apparent cystal fusions

58
Q

what is the Amelx phenotype

A

Distrinctive vertical banding pattern on the enamel of affected heterozygous females due to random inactiviating the X chromsomes

59
Q

what kind of disease does Ameloblastin (Ambn) mutation lead to

A

Autosomal recessive Hypoplastic AI

60
Q

Phenotype of Ambn

A

Poorly formed Rods (prisms)

Shitty enamel

61
Q

what does Enamelin (ENAM) mutation lead to

A

Autosomal Dominant Hypoplastic AI

62
Q

what happens when Enam is eliminated

A

No enamel ribbons even after extensive dentin mineralization

63
Q

what is the Phenotype if Heterozygous ENAM mutation

A

mild phenotype, with localized pitting defects and groove/shallow pits formed in paralel horizontal lines

64
Q

what happens when Both ENAM allels are defective

A

No enamel layer

65
Q

what does MAtrix Metalloproteinase-20 do

A

Secreted early in development of enamel to cleave strucutural proteins Amelogenin, enamelin, and ameloblastin

66
Q

how much MAtrix Metalloproteinase-20 is present

A

Very small amounts

67
Q

what do people with Enamel mutations often have

A

Severe carries

68
Q

how does A westernblot lot when MMP-20 is removed

A

Will have one large protein left, but a lot of smaller bands will appears as cleaved products

69
Q

what does mmp20 do the DEJ

A

Weak Dentin-Enamel JUnction

70
Q

what does MMP20 mutation lead to

A

Hypoplastic/hypomaturation AI

71
Q

Phenotype of MMP20 mutation

A

Pigmented hypopmaturation AI
normal size teeth, but enamel does not contrast well with dentin on radiographs
enamel tends to chip

72
Q

presence of Strcutural enamel proteins and MMP20 in species with no teeth

A

No, since there is no selective pressure to maintain these genes

73
Q

what happens when matuaration stage enamel proteins are mutated

A

AI

74
Q

Proteins of MAturation stage

A

Kallikrein 4 (KLK4)
WD repeat protein 72 (WDR72)
Chromosome 4 open reading frame 26 (C4orf26)
Solute Carrier Family 24, member 4 (SLC24A4)

75
Q

Roll of Kallikrein 4

A

Serine protease

76
Q

Mutation in Kallikrein 4 leads to

A

Autosomal-recessive AI

77
Q

roll of WD repeat protein 71

A

Intracellular protein

78
Q

mutation of WD repeat protein 72 cuases

A

Autosomal recessive AI

79
Q

roll of Chromosome 4 open reading fram 26

A

secreted to hlep enamel mature

80
Q

roll of Solute carrier family 24, member 4

A

Proton pump that may rid enamel of protons

81
Q

when is Kallikrein-4 expressed

A

During mid-late stage enamel develop when enamel has reached its full thickness and when proteins are actively removed rom the hardening matrix

82
Q

roll of Kallikrein-4

A

degrades proteins to facilitate their removal from the enamel matrix

83
Q

effect of REmoving Kallikrein-4

A

Enamel has normal thickness and rod and interrod org

However; enamel crystals do not grow together

84
Q

what does A kallikrein-4 mutation lead

A

Autosomal Recessive Hypomaturation AI

85
Q

phenotype of KLK4 mutation

A 
ARAI
normal sized teeth
 yellow brown
Enamel is slightly opace
Fracturing enamel
86
Q

when is Family with Sequence similarity 83 member H

A

uniquitously expressed

87
Q

what does Family with sequence Similarity 83 affect

A

dental enamel

88
Q

what does Mutation in Family with sequence similarity 83 member H lead to

A

Autosomal dominant hypocalcified amelogenesis imperfecta

89
Q

what is most common form of AI in the US

A

fam83H mutations for autosomal dominant hypocalcified amelogenesis imperfecta

90
Q

FAM20A mutations lead to

A 
Enamel hypoplasia
Gingival hypertrophy 
Kidney calicifcations
Enamel Renal syndrome
Delayed eruption
Pulp calcifications
91
Q

FAM20A mutations lead to

A 
Hypoplastic amelogeneis imperfecta
Gingival hyperplasia
kidney calcifaction
intrapupal calcification
delayed tooth eruption
failure for tooth development

oral histology (14 decks)

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