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

Question 1

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

Answer 1

Genetic code

Question 2

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

Answer 2

Degenerate/redundant genetic code

Question 3

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

Answer 3

Gain-of-function mutation

Question 4

Mutation that results in a decrease or absence of function

Answer 4

Loss-of-function mutation

Question 5

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

Answer 5

Haploinsufficiency

Question 6

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

Answer 6

Dominant negative mutation

Question 7

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

Answer 7

Genetic factors

Question 8

Three examples of environmentally caused disease:

Answer 8

1- influenza
2- measles
3- infectious disease

Question 9

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

Answer 9

1- diabetes
2- CV diseases
3- osteoporosis

Question 10

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

Answer 10

1- cystic fibrosis
2- hemophilia A

Question 11

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

Answer 11

Missense & nonsense

Question 12

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

Answer 12

Loss-of-function mutations

Question 13

Haploinsufficiency is a subcategory of:

Answer 13

Loss-of-function mutations

Question 14

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:

Answer 14

Haploinsufficiency

Question 15

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

Answer 15

About 50%

Question 16

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

Answer 16

No disease; disease

Question 17

Example of a disease caused by a haploinsufficiency mutation

Answer 17

Marfan’s syndrome

Question 18

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

Answer 18

Dominant negative mutation

Question 19

A dominant negative mutation is a subcategory of:

Answer 19

Loss-of-function mutations

Question 20

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)

Answer 20

More deleterious

Question 21

Osteogenesis imperfection is an example of a:

Answer 21

Dominant negative mutation

Question 22

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

Answer 22

Gain-of-function mutations

Question 23

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

Answer 23

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

Question 24

As a collective group ______ genetic diseases are the most common

Answer 24

Craniofacial

Question 25

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

Answer 25

30%

Question 26

Hallmark of autosomal recessive disease

Answer 26

Consanguineous mating

Question 27

Answer 27

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

Question 28

What does an arrow indicate on a family pedigree

Answer 28

Proband (first case identified)

Question 29

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

Answer 29

Autosomal recessive diseases

Question 30

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

Answer 30

Dominant type of trait

Question 31

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

Answer 31

Female to male & male to female transmission

Question 32

Valuable tools in trying to categorize genetic diseases

Answer 32

Family pedigrees

Question 33

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

Answer 33

X chromosome

Question 34

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

Answer 34

Tooth development Many other organs

Question 35

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

Answer 35

Risk factor Diseases

Question 36

There are numerous malocclusion syndromes that can be ____ or ____

Answer 36

Inherited or non-inherited

Question 37

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

Answer 37

Malocclusion syndromes

Question 38

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

Answer 38

Craniofacial malformations

Question 39

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

Answer 39

Bone mass traits

Question 40

Dentinogenesis imperfecta & amelogenesis imperfecta are both examples of:

Answer 40

Tooth developmental disorders

Question 41

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.

Answer 41

Ectodermal dysplasia

Question 42

More than the correct number of teeth

Answer 42

Supernumerary teeth

Question 43

With supernumerary teeth _____ is fairly common

Answer 43

Tooth impaction

Question 44

With supernumerary teeth, multiple impacted teeth is:

Answer 44

Very rare

Question 45

Both ____ & ____ can give rise to supernumerary teeth

Answer 45

Syndromic & non-syndromic

Question 46

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

Answer 46

Syndromic disease

Question 47

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

Answer 47

Syndromic

Question 48

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

Answer 48

Non-syndromic disease

Question 49

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

Answer 49

Syndromic-associated diseases

Question 50

Cleidocranial dysplasia is caused by a mutation in the:

Answer 50

RUNX2 gene

Question 51

A master regulator of osteoblastogenesis & bone formation

Answer 51

RUNX2 gene

Question 52

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

Answer 52

Cleidocranial dysplasia

Question 53

Refers to the condition of fewer teeth

Answer 53

Tooth agenesis

Question 54

The most common human developmental craniofacial anomaly

Answer 54

Tooth agenesis

Question 55

Missing one to five teeth (excluding third molars)

Answer 55

Hypodontia

Question 56

Missing six or more teeth (excluding the third molars)

Answer 56

Oligodontia

Question 57

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

Answer 57

Anodontia

Question 58

Worldwide the prevalence rate of: hypondontia: third molars primary teeth:

Answer 58

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

Question 59

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

Answer 59

Syndromic-associated

Question 60

The most common form of tooth agenesis is:

Answer 60

Non-syndromic

Question 61

Associated phenotypes of tooth agenesis (5):

Answer 61

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

Question 62

An increased pulp chamber

Answer 62

Taurodontism

Question 63

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

Answer 63

Synergistic & antagonistic actions Odontogenic epithelium & mesenchyme

Question 64

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

Answer 64

Specific genes & transcription factors

Question 65

Over 300 genes that are known to be expressed throughout:

Answer 65

Odontogenesis

Question 66

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

Answer 66

MSX1 & PAX9

Question 67

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

Answer 67

WNT/Beta-catenin signaling

Question 68

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

Answer 68

Amelogenins

Question 69

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

Answer 69

HAP crystal formation/growth

Question 70

Cell adhesion proteins, controls cell differentiation, maintains rod integrity

Answer 70

Ameloblastin

Question 71

Cooperates with amelogenin to control mineral nucleation & elongated growth

Answer 71

Enamelin

Question 72

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

Answer 72

Kallikrin 4

Question 73

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

Answer 73

MMP-20

Question 74

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

Answer 74

Amelogenesis imperfecta

Question 75

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

Answer 75

Dentinogenesis imperfecta

Question 76

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

Answer 76

Amelogenesis imperfecta

Question 77

Amelogenesis imperfecta is a condition that can affect:

Answer 77

Both primary & permanent dentition

Question 78

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

Answer 78

Dentin ECM molecules

Question 79

Dental ECM molecule which is the major component found in dentin

Answer 79

Type I collagen

Question 80

Small integrin-binding ligand n-linked glycoproteins

Answer 80

SIBLING family of proteins

Question 81

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

Answer 81

Dentin Sialophophoprotiens (DSPP)

Question 82

Dentin ECM molecule that plays a role in biomineralization

Answer 82

Bone sialoprotein

Question 83

Dentin ECM molecule produced by odontoblasts & early-stage osteocytes

Answer 83

Dentin Matrix Protein 1 (DMP1)

Question 84

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

Answer 84

Osteopontin

Question 85

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

Answer 85

MEPE

Question 86

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

Answer 86

Type I dentinogenesis imperfecta

Question 87

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

Answer 87

Type II dentinogenesis imperfecta

Question 88

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”

Answer 88

Type III dentinogenesis imperfecta

Question 89

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

Answer 89

COL1A1 & COL1A2

Question 90

Dentinogenesis imperfecta type I occurs as part of:

Answer 90

Osteogenesis imperfecta

Question 91

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

Answer 91

DSPP

Question 92

Mutations in DSPP have been found in both:

Answer 92

Type II & III dentinogenesis imperfecta

Question 93

Milder dentin defects than in dentinogenesis imperfecta II & III

Answer 93

Dentin dysplasis

Question 94

Gene mutations can broadly be classified into two categories:

Answer 94

Gain-of-function & Loss-of-function