Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

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

(54 cards)

Start Studying
1
Q

What occurs if mutations occur in somatic tissues?

A

They cannot be inherited

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

What occurs if mutations arise in the DNA of gametes?

A

They will be passed on to the offspring

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

What are types of protein function resulting from gene mutations?

A
  1. Loss of function mutation
  2. Gain of function mutation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is a loss of function mutation?

A

Absence results in dysfunction

Absence results in less or no function of certain proteins

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

What are examples of loss of function mutations?

A

Haploinsufficiency
Dominant negative

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

What is a haploinsufficiency?

A

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

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

What is an example of haploinsufficiency?

A

Marfan syndrome with fibrillin mutation

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

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

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

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

A

Osteogenesis imperfecta

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

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

What is an example of a gain of function mutation?

A

Charcot-Marie-Tooth sensory neuropathy, Cherubism

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

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

A

Craniofacial genetic diseases

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

Where are autosomal recessive diseases often present?

A

In consanguineous marriages

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

What is consanguinity?

A

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

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

What are tooth developmental defects thought of as?

A

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

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

What are examples of dental genetic diseases?

A

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

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

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

What are some syndromic associated diseases of supernumeray teeth?

A

Cleiodocranial dysplasia
Gardners syndrome
Trichorhino phalangic syndrome
Cleft lip and palate

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

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

A

RUNX2

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

What is osteoblastogenesis charactrized by?

A

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

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

What is the most common human developmental craniofacial anomaly?

Study These Flashcards
A

Tooth agenesis

23
Q

What is hypodontia?

Study These Flashcards
A

Missing one to five teeth (excluding 3rd molars)

24
Q

What is oligodontia?

Study These Flashcards
A

Missing 6 or more teeth (excluding 3rd molars)

25
What is anodontia?
Missing all teeth Most severe and rare form - mostly syndromic
26
What is the most to least prevalent tooth agenesis condition?
Third molars 22.6% Hypodontia 6.4% Primary 0.1-2.4%
27
What interactions occur during tooth development?
Synergistic and antagonistic interactions between odontogenic epithelium and mesenchyme
28
What are two of the most commonly mutated genes in teeth?
MSX1 PAX9
29
What are some other possible mutated genes in teeth?
EDA/EDAR AXIN2 LTBP3 WNT10A WNT10B 7 others
30
What does an AXIN2 mutation impair?
Wnt/b-catenin signaling in human
31
What does impaired Wnt/b-catenin signaling mutation result in?
tooth agenesis and colorectal cancer
32
Which protein stabilizes the amorphous Ca-P phase, control of apatite crystal morphology and organization, control of enamel thickness?
Amelogenin
33
Which protein functions in cells adhesion protein, controls cell differentiation, maintains rod integrity?
Ameloblastin
34
Which protein functions in cooperating with amelogenin to control mineral nucleation and elongated growth?
Enamelin
35
Which protein digests enamel proteins during maturation stage facilitating their removal and hardening the final layer of enamel?
Kallikrin 4
36
Which protein cleaves amelogenin, ameloblastin and enamelin at the secretory stage to produce stable intermediates with defined functions?
Mmp-20
37
What does amelogeneis symptoms?
Teeth to be unusually small, discolorated, pitted or grooves, prone to rapid wear and breakage
38
What is the main protein in forming enamel?
Amelogenin
39
What is Xp22?
X-linked amelogenesis imperfecta
40
What protein is associated with Enamelin?
~186kDa protein
41
What percent of the enamel matrix is Enamelin?
~5%
42
What are examples of dentin extracellular matrix molecules?
Type 1 collagen SIBLING family proteins (Small Integrin-Binding Ligand N-linked Glycoproteins)
43
What is the major component found in dentin?
Type I collagen
44
When is Dentin Sialophosphoproteins (DSPP) cleaved?
Immediately after secretion into DSP, DGP, and DPP
45
What is produced by odontoblasts and early-stage osteocytes?
Dentin Matrix Protein 1 (DMP1)
46
What plays a role in biomineralization?
Bone Sialoprotein
47
What contains an RDG motif and in bone appear to be an inhibitor of mineralization?
Matrix extracellular phopshoglycoprotein (MEPE)
48
What plays a role in HA binding and contains an RGD motif, mineralization inhibitor?
Osteopontin
49
What does dentinogenesis imperfecta cause?
Teeth to be discolored and translucent Weaker than normal, making them prone to rapid wear, breakage and loss
50
Who does type I dentinogenesis imperfecta occur in?
People who have osteogenesis imperfecta
51
What are symptoms of type I dentinogenesis imperfect?
Bones are brittle and easily broken
52
Who does type II and type III dentiogenesis occur in?
People without other inherited disorders
53
What teeth are more affected in Type II and III dentinogenesis imperfecta?
II - baby teeth III - both dentitions
54
What are symptoms of type III dentinogenesis imperfecta?
Dentin is extremely thin and the pulp chamber is extremely enlarged Referred to as "shell teeth"

D1 Fall - Biochem (29 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions