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D1 Fall - Biochem > 10/24: How do Mutations Affect Health and Tooth Development > Flashcards

10/24: How do Mutations Affect Health and Tooth Development Flashcards

1
Q

What occurs if mutations occur in somatic tissues?

A

They cannot be inherited

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2
Q

What occurs if mutations arise in the DNA of gametes?

A

They will be passed on to the offspring

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3
Q

What are types of protein function resulting from gene mutations?

A
  1. Loss of function mutation
  2. Gain of function mutation
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4
Q

What is a loss of function mutation?

A

Absence results in dysfunction

Absence results in less or no function of certain proteins

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5
Q

What are examples of loss of function mutations?

A

Haploinsufficiency
Dominant negative

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6
Q

What is a haploinsufficiency?

A

Reduced gene dosage is not sufficient to permit the cell to function properly

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7
Q

What is an example of haploinsufficiency?

A

Marfan syndrome with fibrillin mutation

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8
Q

What is dominant negative mean?

A

Mutation whose gene product adversely effects the normal, wild-type gene product within the same cell, usually by dimerizing with it

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9
Q

What are dominant negative mutations in polymeric molecules such as collagen?

A

Often more deleterious than mutations causing the production of no gene product (cancer)

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10
Q

What is an example of a dominant negative mutation in polymeric molecules?

A

Osteogenesis imperfecta

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11
Q

What is a gain of function mutation?

A

Increased function results in dysfunction

Mutation in certain genes gain a new and abnormal function of the protein

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12
Q

What is an example of a gain of function mutation?

A

Charcot-Marie-Tooth sensory neuropathy, Cherubism

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13
Q

What kind of diseases regarding tooth development is the most prominent?

A

Craniofacial genetic diseases

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14
Q

Where are autosomal recessive diseases often present?

A

In consanguineous marriages

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15
Q

What is consanguinity?

A

A deeply rooted social trend among 1/5 of the world population

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16
Q

What are tooth developmental defects thought of as?

A

A potential risk factor for other diseases that manifest later in life

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17
Q

What are examples of dental genetic diseases?

A

Malocclusion syndromes
Craniofacial malformations
Bone mass traits
Tooth agenesis
Tooth movement
Tooth development disorders

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18
Q

What are symptoms of ectodermal dysplasia?

A

Abnormal nails
Abnormal and missing teeth
Absent or very thin hair
Absent tears
Decreased skin color
Foul-smelling nasal discharge
Heat intolerance
Inability to sweat
large forehead
light coloring
Thin hair
Thin skin

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19
Q

What are some syndromic associated diseases of supernumeray teeth?

A

Cleiodocranial dysplasia
Gardners syndrome
Trichorhino phalangic syndrome
Cleft lip and palate

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20
Q

What gene is a master regulator of osteoblastogenesis and bone formation?

A

RUNX2

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21
Q

What is osteoblastogenesis charactrized by?

A

Delayed closure of the sutures, aplastic of hypoplastic clavicle formation, short stature and dental abnormalities

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22
Q

What is the most common human developmental craniofacial anomaly?

A

Tooth agenesis

23
Q

What is hypodontia?

A

Missing one to five teeth (excluding 3rd molars)

24
Q

What is oligodontia?

A

Missing 6 or more teeth (excluding 3rd molars)

25
Q

What is anodontia?

A

Missing all teeth
Most severe and rare form - mostly syndromic

26
Q

What is the most to least prevalent tooth agenesis condition?

A

Third molars 22.6%
Hypodontia 6.4%
Primary 0.1-2.4%

27
Q

What interactions occur during tooth development?

A

Synergistic and antagonistic interactions between odontogenic epithelium and mesenchyme

28
Q

What are two of the most commonly mutated genes in teeth?

A

MSX1
PAX9

29
Q

What are some other possible mutated genes in teeth?

A

EDA/EDAR
AXIN2
LTBP3
WNT10A
WNT10B
7 others

30
Q

What does an AXIN2 mutation impair?

A

Wnt/b-catenin signaling in human

31
Q

What does impaired Wnt/b-catenin signaling mutation result in?

A

tooth agenesis and colorectal cancer

32
Q

Which protein stabilizes the amorphous Ca-P phase, control of apatite crystal morphology and organization, control of enamel thickness?

A

Amelogenin

33
Q

Which protein functions in cells adhesion protein, controls cell differentiation, maintains rod integrity?

A

Ameloblastin

34
Q

Which protein functions in cooperating with amelogenin to control mineral nucleation and elongated growth?

A

Enamelin

35
Q

Which protein digests enamel proteins during maturation stage facilitating their removal and hardening the final layer of enamel?

A

Kallikrin 4

36
Q

Which protein cleaves amelogenin, ameloblastin and enamelin at the secretory stage to produce stable intermediates with defined functions?

A

Mmp-20

37
Q

What does amelogeneis symptoms?

A

Teeth to be unusually small, discolorated, pitted or grooves, prone to rapid wear and breakage

38
Q

What is the main protein in forming enamel?

A

Amelogenin

39
Q

What is Xp22?

A

X-linked amelogenesis imperfecta

40
Q

What protein is associated with Enamelin?

A

~186kDa protein

41
Q

What percent of the enamel matrix is Enamelin?

A

~5%

42
Q

What are examples of dentin extracellular matrix molecules?

A

Type 1 collagen
SIBLING family proteins (Small Integrin-Binding Ligand N-linked Glycoproteins)

43
Q

What is the major component found in dentin?

A

Type I collagen

44
Q

When is Dentin Sialophosphoproteins (DSPP) cleaved?

A

Immediately after secretion into DSP, DGP, and DPP

45
Q

What is produced by odontoblasts and early-stage osteocytes?

A

Dentin Matrix Protein 1 (DMP1)

46
Q

What plays a role in biomineralization?

A

Bone Sialoprotein

47
Q

What contains an RDG motif and in bone appear to be an inhibitor of mineralization?

A

Matrix extracellular phopshoglycoprotein (MEPE)

48
Q

What plays a role in HA binding and contains an RGD motif, mineralization inhibitor?

A

Osteopontin

49
Q

What does dentinogenesis imperfecta cause?

A

Teeth to be discolored and translucent
Weaker than normal, making them prone to rapid wear, breakage and loss

50
Q

Who does type I dentinogenesis imperfecta occur in?

A

People who have osteogenesis imperfecta

51
Q

What are symptoms of type I dentinogenesis imperfect?

A

Bones are brittle and easily broken

52
Q

Who does type II and type III dentiogenesis occur in?

A

People without other inherited disorders

53
Q

What teeth are more affected in Type II and III dentinogenesis imperfecta?

A

II - baby teeth
III - both dentitions

54
Q

What are symptoms of type III dentinogenesis imperfecta?

A

Dentin is extremely thin and the pulp chamber is extremely enlarged

Referred to as “shell teeth”

D1 Fall - Biochem (29 decks)

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