How Do Mutations Affect Health & Tooth Development (Exam IV) Flashcards

1
Q

The three nucleotide sequence (codon) that specifies different amino acids

A

Genetic code

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Property/principle of the genetic code that many amino acids are encoded by multiple three nucleotide codons, as such- changes in t nucleic acid sequence may not alter the resulting amino acid

A

Degenerate/redundant genetic code

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Mutation that results in increased function or new function in a protein

A

Gain-of-function mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Mutation that results in a decrease or absence of function

A

Loss-of-function mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Reduced gene dosage resulting in insufficient protein being made & diminished functioning of the cell

A

Haploinsufficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Mutation resulting in an altered protein that reduces or inhibits the function of another normal protein in the cell

A

Dominant negative mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Because genetic disorders represent a continuum of diseases, even if a disease is largely caused by the environment, there may still be ______ affecting the outcome

A

Genetic factors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Three examples of environmentally caused disease:

A

1- influenza
2- measles
3- infectious disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Three examples of diseases that have around equally environmental and genetic influences:

A

1- diabetes
2- CV diseases
3- osteoporosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Two examples of diseases that are fully caused by genetic factors:

A

1- cystic fibrosis
2- hemophilia A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Represent the largest portion of mutations that have been identified that relate to disease

A

Missense & nonsense

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Mutations resulting in either- lower amounts, no function or enzyme deficiencies

A

Loss-of-function mutations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Haploinsufficiency is a subcategory of:

A

Loss-of-function mutations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Because you have two copies of each autosomal gene- if one copy is expressed & the other is not due to a disease causing mutation this is called:

A

Haploinsufficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Haploinsufficiency results in the amount of products being produced to be _____ compared to when no mutation is present

A

About 50%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Some haploinsufficiency mutations results in _____ while other cases it may result in ____

A

No disease; disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Example of a disease caused by a haploinsufficiency mutation

A

Marfan’s syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

A mutation whose gene product adversely affects the normal wild-type gene product within the same cell, usually by dimerizing with with it

A

Dominant negative mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

A dominant negative mutation is a subcategory of:

A

Loss-of-function mutations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

In the cases of polymeric molecules such a as collagen, the dominant negative mutations are often _____ than mutations causing the production of no gene product (cancer)

A

More deleterious

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Osteogenesis imperfection is an example of a:

A

Dominant negative mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Charcot-Marie-Tooth sensory neuropathy & Cherubism are examples of:

A

Gain-of-function mutations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Over 300 genes identified that have mutations associated with (3):

A

1- tooth patterning
2- morphogenesis defects
3- differentiation defects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

As a collective group ______ genetic diseases are the most common

A

Craniofacial

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Of all known genetic disease, craniofacial diseases account for about:

A

30%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Hallmark of autosomal recessive disease

A

Consanguineous mating

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q
A

1- unaffected male
2- unaffected female
3- mating (single bar)
4- consanguineous mating (double bar)
5- identical twins
6- deceased female
7- lost pregnancy
8- affected male
9- affected female
10- fraternal twins
11- autosomal heterozygous carrier
12- X-lined carrier

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What does an arrow indicate on a family pedigree

A

Proband (first case identified)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What cannot be ruled out even in the absence of consanguineous matings:

A

Autosomal recessive diseases

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

If the number of affected and unaffected individuals at each generational level is about 50/50, this suggests:

A

Dominant type of trait

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

To rule out if the trait is autosomal or sex-linked, you should look at:

A

Female to male & male to female transmission

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Valuable tools in trying to categorize genetic diseases

A

Family pedigrees

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

If you see male to male transmission of a trait in affected individuals- you know the trait is NOT moving on the:

A

X chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

The developmental signaling pathways that drive ______ are also critical in the development of _____

A

Tooth development
Many other organs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Tooth development defects should be perhaps be thought of as a potential _______ for other ______ that manifest later in life

A

Risk factor
Diseases

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

There are numerous malocclusion syndromes that can be ____ or ____

A

Inherited or non-inherited

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Pierre-robin, Treacher collins & Marfan’s syndrome are all examples of:

A

Malocclusion syndromes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Crouson, Apert, Pfieffer & clefting syndromes are all examples of:

A

Craniofacial malformations

39
Q

Sclerosterosis & Van Buschem’s, High bone mass & OPPG, & Paget’s disease are all examples of:

A

Bone mass traits

40
Q

Dentinogenesis imperfecta & amelogenesis imperfecta are both examples of:

A

Tooth developmental disorders

41
Q

A very large category of genetic disease is ______ which encompasses a lot of different mutations: abnormal nails, abnormal/missing teeth, absent or very thin hair, foul-smelling nasal discharge, absent tears, decreased pigment, etc.

A

Ectodermal dysplasia

42
Q

More than the correct number of teeth

A

Supernumerary teeth

43
Q

With supernumerary teeth _____ is fairly common

A

Tooth impaction

44
Q

With supernumerary teeth, multiple impacted teeth is:

A

Very rare

45
Q

Both ____ & ____ can give rise to supernumerary teeth

A

Syndromic & non-syndromic

46
Q

Another associated disease that is coincident or contributing to the supernumerary phenotype

A

Syndromic disease

47
Q

If you had measles as a child which gave rise to supernumerary teeth:

A

Syndromic

48
Q

When you do not have a different disease associated with the supernumerary teeth, just strictly teeth issues

A

Non-syndromic disease

49
Q

Cleidocranial dysplasia, Gardner’s syndrome, Trichorhino phalangic syndrome, cleft lip & palate are all examples of:

A

Syndromic-associated diseases

50
Q

Cleidocranial dysplasia is caused by a mutation in the:

A

RUNX2 gene

51
Q

A master regulator of osteoblastogenesis & bone formation

A

RUNX2 gene

52
Q

Disease characterized by delayed closure of the sutures, aplastic or hypoplastic clavicle formation, short stature & dental abnormalities

A

Cleidocranial dysplasia

53
Q

Refers to the condition of fewer teeth

A

Tooth agenesis

54
Q

The most common human developmental craniofacial anomaly

A

Tooth agenesis

55
Q

Missing one to five teeth (excluding third molars)

A

Hypodontia

56
Q

Missing six or more teeth (excluding the third molars)

A

Oligodontia

57
Q

Missing all teeth, very severe, very rare & mostly syndromic

A

Anodontia

58
Q

Worldwide the prevalence rate of:

hypondontia:
third molars
primary teeth:

A

6.4% (ranging from 4.4 to 13.4)
22.6% (5.3-56)
0.1-2.4%

59
Q

There are over 60 conditions that we know listed in OMIM of tooth agenesis that are considered:

A

Syndromic-associated

60
Q

The most common form of tooth agenesis is:

A

Non-syndromic

61
Q

Associated phenotypes of tooth agenesis (5):

A

1- conical crown shape
2- molar taurodontism
3- enamel hypoplasia
4- transposition
5- canine misposition

62
Q

An increased pulp chamber

A

Taurodontism

63
Q

The etiology of tooth agenesis is due to changes in _____ & ____ actions between _____ & _____

A

Synergistic & antagonistic actions

Odontogenic epithelium & mesenchyme

64
Q

Tooth development is directed by variable of expression of _____ & _____

A

Specific genes & transcription factors

65
Q

Over 300 genes that are known to be expressed throughout:

A

Odontogenesis

66
Q

Two of the most common genes that are mutated in tooth development:

A

MSX1 & PAX9

67
Q

AXIN2 mutaiton impairs ______ in humans and results in tooth agenesis & colorectal cancer

A

WNT/Beta-catenin signaling

68
Q

Stabilizes the amorphous Ca-P phase, control of apatite crystal morphology & organization, control of enamel thickness

A

Amelogenins

69
Q

Amelogenins have the ability to self assemble into nanosperes & thereby guide:

A

HAP crystal formation/growth

70
Q

Cell adhesion proteins, controls cell differentiation, maintains rod integrity

A

Ameloblastin

71
Q

Cooperates with amelogenin to control mineral nucleation & elongated growth

A

Enamelin

72
Q

Digests enamel proteins during maturation stage facilitating their removal & hardening the final layer of enamel

A

Kallikrin 4

73
Q

Cleaves amelogenin, Ameloblastin & enamel at the secretory stage to produce stable intermediates with defined functions

A

MMP-20

74
Q

When you have mutations in enamel this will give rise to:

A

Amelogenesis imperfecta

75
Q

When you have mutations in the proteins that give rise to dentin this will give rise to diseases collectively called:

A

Dentinogenesis imperfecta

76
Q

A disorder of tooth development; causes teeth to be unusually small, discolored, pitted or grooved, & prone to rapid wear & breakage

A

Amelogenesis imperfecta

77
Q

Amelogenesis imperfecta is a condition that can affect:

A

Both primary & permanent dentition

78
Q

Type I Collagen
SIBLING family proteins
Dentin sialophosphoproteins
Dentin matrix protein I
Bone Sialoprotein
Osteopontin
MEPE

Are all:

A

Dentin ECM molecules

79
Q

Dental ECM molecule which is the major component found in dentin

A

Type I collagen

80
Q

Small integrin-binding ligand n-linked glycoproteins

A

SIBLING family of proteins

81
Q

Dentin ECM molecule that immediately is cleaved after secretion into DSP, DGP & DPP

A

Dentin Sialophophoprotiens (DSPP)

82
Q

Dentin ECM molecule that plays a role in biomineralization

A

Bone sialoprotein

83
Q

Dentin ECM molecule produced by odontoblasts & early-stage osteocytes

A

Dentin Matrix Protein 1 (DMP1)

84
Q

Dentin ECM molecule that functions in HA binding & contains an RGD motif; mineralization inhibitor

A

Osteopontin

85
Q

Dentin ECM molecule that functions in matrix extracellular phosphoglycoprotein, contains and RGD motif & in bone appears to be an inhibitor of mineralization

A

MEPE

86
Q

Occurs in people who have osteogenesis imperfecta. The primary teeth tend to be more severely affected that the permanent teeth

A

Type I dentinogenesis imperfecta

87
Q

Usually occurs in people without other inherited disorders. The primary dentition is generally more severely affected

A

Type II dentinogenesis imperfecta

88
Q

Usually occurs in people without other inherited disorders. Both dentitions are equally affected. The dentin is extremely thin & the pulp chamber is extremely enlarged. The resulting teeth are often referred to as “shell teeth”

A

Type III dentinogenesis imperfecta

89
Q

Type I collagen genes _____ & _____ are associated with osteogenesis imperfecta

A

COL1A1 & COL1A2

90
Q

Dentinogenesis imperfecta type I occurs as part of:

A

Osteogenesis imperfecta

91
Q

A deficiency of _____ has been suggested as a causative factor in dentinogenesis imperfecta

A

DSPP

92
Q

Mutations in DSPP have been found in both:

A

Type II & III dentinogenesis imperfecta

93
Q

Milder dentin defects than in dentinogenesis imperfecta II & III

A

Dentin dysplasis

94
Q

Gene mutations can broadly be classified into two categories:

A

Gain-of-function & Loss-of-function