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Biochem Exam 4 > How Mutations Affect Health and Tooth Development > Flashcards

How Mutations Affect Health and Tooth Development Flashcards

1
Q

A mutation in the Type I collagen would most likely result in which of the following diseases?

Amelogenesis imperfecta
Dentinogenesis imperfecta type II
Dentinogenesis imperfecta type III
Dentinogenesis imperfecta type I

A

Dentinogenesis imperfecta type I

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2
Q

Can mutations in somatic tissue be inherited?

A

no, but they can give rise to diseases such as cancer

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3
Q

Can mutations in gametes be inherited?

A

yes, they will be passed onto offspring

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4
Q

How many genetic mutations have been studied?

A

around 400,000
-always increasing

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5
Q

What are loss of function mutations?

A

absence results in dysfunction
-mutations result in less or no function of certain proteins
-many autosomal recessive cases in enzyme deficiency

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6
Q

What does it mean if something is haploinsufficiency?

A

reduced gene dosage in not sufficient to permit the cell to function properly

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7
Q

What does it mean if something is dominant negative?

A

-mutation whose gene product adversely affects the normal, wild type gene product within the same cell
-usually more dangerous than mutations that cause the creation of no product at all

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8
Q

what is an example of a haploinsufficiency disorder?

A

Marfan syndrome

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9
Q

What is an example of a dominant negative disorder?

A

osteogenesis imperfecta

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10
Q

What are the types of loss of function mutations?

A

haploinsufficiency and dominant negative

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11
Q

What are gain of function mutations?

A

increased function results in dysfunction
-mutations in certain genes gain a new and abnormal function of the protein

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12
Q

How many genes have been found to be associated with tooth patterning?

A

over 300

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13
Q

On a pedigree, what is an unaffected male?

A

empty square

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14
Q

On a pedigree, what is an affected male?

A

filled in square

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15
Q

On a pedigree, what is an unaffected female?

A

empty circle

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16
Q

On a pedigree, what is an affected female?

A

filled in circle

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17
Q

On a pedigree, what does a single line between people mean?

A

mating

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18
Q

On a pedigree, what does a double line between people mean?

A

consanguineous mating

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19
Q

Where does consanguinity occur most commonly?

A

Middle East, West Asia, and North Africa

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20
Q

Do issues in tooth development usually occur by themselves?

A

no, there is usually an underlying disease/disorder that is causing the abnormal tooth development
-so it is crucial as dentist to recognize the signs in the oral cavity of children

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21
Q

What are the six major categories of genetic disease that affect the dentition?

A

-malocclusion
-craniofacial
-bone mass traits
-tooth agenesis
-tooth movement
-tooth development

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22
Q

What does dentinogenesis imperfecta impact?

A

dentin

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23
Q

What does amelogenesis imperfecta affect?

A

enamel

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24
Q

What are some symptoms of ectodermal dysplasia?

A

-abnormal nails
-abnormal or missing teeth
-absent or very thin hair
-absent tears
-many other

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25
Q

What syndromic associated diseases have supernumerary teeth?

A

-cleidocranial dysplasia
-gardner’s syndrome
-trichorhino phalangic syndrome
-cleft lip and palate

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26
Q

are supernumerary teeth syndromic or non-syndromic?

A

both

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27
Q

Characteristics of cleidocranial dysplasia:

A

-mutation in RUNX2 gene
-delayed closure of sutures, aplastic or hypoplastic clavicle formation, short stature, and dental abnormalities

28
Q

What does RUNX2 do?

A

master regulator of osteoblastogenesis and bone formation

29
Q

What is hypodontia?

A

missing one to five teeth

30
Q

What is oligodontia?

A

missing six or more teeth

31
Q

What is andodontia?

A

missing all teeth
-most severe and rare form (mostly syndromic)

32
Q

Worldwide prevalence of hypodontia:

A

6.4%

33
Q

Worldwide prevalence of missing third molars:

A

22.6%

34
Q

Worldwide prevalence of missing primary teeth:

A

rare
0.1-2.4%

35
Q

How many syndromes are associated with tooth agenesis?

A

over 60 different conditions

36
Q

what is the most common presentation of tooth agenesis?

A

isolated, non-syndromic trait

37
Q

Percentage of missing mandibular 2nd premolar not associated with a syndrome:

A

3%

38
Q

Percentage of missing maxillary lateral incisor not associated with a syndrome:

A

1.7%

39
Q

Percentage of missing maxillary 2nd premolar not associated with a syndrome:

A

1.5%

40
Q

Percentage of missing mandibular central incisor not associated with a syndrome:

A

0.3%

41
Q

Two most common mutated genes associated with tooth agenesis:

A

MSX1 and PAX9

42
Q

what does a mutation in AXIN2 cause?

A

tooth agenesis and colorectal cancer

43
Q

what are the major proteins of enamel?

A

-amelogenin
-ameloblastin
-enamelin
-Kallikrin 4
-Mmp-20

44
Q

What does amelogenin do?

A

stabilize the amorphous Ca-P phase
-self assemble and form HAP structure
*important in forming enamel

45
Q

What does ameloblastin do?

A

is it a cell adhesion protein, controls cell differentiation, maintain rod integrity

46
Q

What does enamelin do?

A

cooperates with amelogenin to control mineral nucleation and elongated growth

47
Q

What does Kallikrin 4 do?

A

digest enamel proteins during maturation stage helping their removal and hardening the final layer of enamel

48
Q

What does Mmp-20 do?

A

cleave amelogenin, ameloblastin, and enamelin at the secretory phase to make stable intermediates with defined functions

49
Q

What does amelogenesis imperfecta cause?

A

unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage
*no enamel

50
Q

what is the major component of dentin?

A

type I collagen

51
Q

what are the dentin ECM molecules?

A

Type I collagen & SIBLING proteins
SIBLING proteins:
-dentin sialophosphoproteins (DSPP)
-dentin matrix protein 1 (DMP1)
-bone sialoprotein
-osteopontin
-MEPE

52
Q

What does dentin sialophosphoproteins do?

A

immediately cleaved after secretion into DSP, DGP and DPP

53
Q

What does dentin matrix protein 1 do?

A

made by odontoblasts and early stage osteocytes

54
Q

What does bone sialoprotein do?

A

play a role in biomineralization

55
Q

What does osteopontin do?

A

HA binding and contain an RGD motif
-is a mineralization inhibitor

56
Q

What is MEPE?

A

matrix extracellular phosphoglycoprotein
-contains an RDG motif and in bone appear to be an inhibitor of bone mineralization

57
Q

What is dentinogenesis imperfecta?

A

disorder of tooth development that causes teeth to be discolored and translucent
-teeth are also weaker than normal

58
Q

What is type I dentinogenesis imperfecta?

A

associated with osteogenesis imperfecta
-bone and teeth are both easily broken
-primary teeth more affected than permanent

59
Q

What is type II dentinogenesis imperfecta?

A

occur in those without any other inherited disorders
-affects the baby teeth more

60
Q

What is type III dentinogenesis imperfecta?

A

occur in those without any other inherited disorders
-affects both dentitions equally
-dentin is extremely thin and the pulp chambers are enlarged
teeth are referred to as “shell teeth”

61
Q

mutations in COL1A1 or COL1A2 cause what?

A

osteogenesis imperfecta
-dentinogenesis imperfecta type I occurs as part of OI

62
Q

What has a deficiency in dentin sialophosphoprotein (DSPP) been associated with?

A

dentinogenesis imperfecta II and III

63
Q

what is dental dysplasis?

A

milder dentin defects than DI-II&III
*mutation in a signal peptide (Y6D) of DSPP causing reduced amount of DSPP secreted into dentin matrix

64
Q

What are the most common type of genetic disorders?

A

genetic diseases of the craniofacial skeleton and dentition

65
Q

What protein is associated with dentinogenesis imperfecta?

A

type I collagen

Biochem Exam 4 (11 decks)

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