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Biochemistry (Cole) > Lecture 35 How do mutations affect health and tooth development > Flashcards

Lecture 35 How do mutations affect health and tooth development Flashcards

1
Q

What are environmental diseases?

A
  • influenza
  • measles
  • infections
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2
Q

What are in the middle of the disease continuum?

A
  • diabetes
  • CV diseases
  • Osteoporosis
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3
Q

What would be 2 genetic diseases?

A
  • cystic fibrosis

- hemophilia A

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4
Q

Mutation data base total number

A
  • 120,000 (large numbers)
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5
Q

What are the broadest classes of protein functions resulting form gene mutations?

A
  • loss-of-function mutation

- gain of function mutation

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6
Q

What is a loss of function mutation?

A
  • absence results in dysfunction
  • mutations results in less or no function of certain proteins
  • many autosomal recessive cases in enzyme deficiency
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7
Q

Haploinsufficiency

A
  • reduced gene dosage is not sufficient to permit the cell to function properly
  • Marfan syndrome with fibrillin mutation
  • only half of alleles working (50 % of protein being made)
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8
Q

Dominant negative mutations

A
  • a mutation whose product adversely affects the normal product
  • osteogensis imperfect
  • disrupts good proteins function
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9
Q

Gain of function mutation

A
  • increased function results in dysfunction
  • mutations in certain genes gain a new and abnormal function of protein
  • dense skeleton
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10
Q

What is the most common type of disease?

A
  • craniofacial genetic disorders
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11
Q

What indicated consanguineous mating?

A
  • double bar

related individuals

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12
Q

High bone mass kindred

A
  • autosomal dominant trait
  • (male to female)
  • (female to male)
  • each level effected
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13
Q

What would be an appropriate name for bone diseases?

A
  • cranio tubular hyperostosis
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14
Q

What are present in consanguineous marriages?

A
  • autosomal recessive diseases
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15
Q

Why are autosomal recessive diseases frequently found in the mediterranean?

A
  • because they allow first cousin marriages
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16
Q

Why do genetic diseases relate to teeth?

A
  • the developmental signaling pathways that drive tooth development are critical in the development of many other organs
  • tooth development should perhaps be thought of as a potential risk factor for other diseases that manifest later in life.
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17
Q

What are the malocclusion syndromes?

A
  • pierre robin
  • treacher collins
  • marfan syndrome
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18
Q

What are the craniofacial malformations?

A
  • crouson
  • apert
  • pfeiffer
  • clefting syndromes (lip and palate)
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19
Q

What are the bone mass traits?

A
  • sclerosteosis and van buschem’s
  • high bone mass and OPPG
  • Paget’s Disease
  • tooth agenesis
  • tooth movement
    = tooth development disorders
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20
Q

Schlerosteos and van buschems

A
  • mutations in sosh gene
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21
Q

High bone mass and OPPG

A
  • LRP5
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22
Q

Tooth agenisis

A
  • patient missing teeth
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23
Q

Pagents disease

A
  • increases bone mass
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24
Q

Ectodermal dysplasia symptoms

A
  • abmoral nails, teeth, absent or think hair, absent tears, decreased skin color etc
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25
Q

Supernumarry teeth

A
  • tooth impaction is fairly common but umtiple impacted teeth is rare
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26
Q

What is a syndromic disease?

A
  • when another disease effects the tooth development
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27
Q

Syndromic associated diseases:

A
  • Cleidocranal dysplasia
  • Gardners syndrome
  • Trichorhino phalangic syndrome
  • Cleft lip and palate
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28
Q

Non-syndromic

A
  • no comorbities
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29
Q

Why is RUNX2 important?

A
  • ## it is a master regulator of osteoblastogenis and bone formation
30
Q

Cleidocrania dysplasia

A
  • mutation in RUNX 2 gene
  • cahracterized by delayed closer of the sutures, aplastic or hypoplastic clavicle formation, short stature and dental abnormalities
31
Q

What is axin2 significant in?

A

-and AXIN2 mutation impairs the Wnt/b-catenin signaling and results in tooth agenesis and colorectal cancer

32
Q

What does an axin2 mutation result in?

A
  • tooth agenesis

- colorectal cancer

33
Q

What is keratin 17 responsible for?

A
  • oligodontia

- (facial cysts and other comorbities associated with keratin 17)

34
Q

what is LRP6 associated with?

A
  • autosomal dominant oligodontia

identified by exome sequencing

35
Q

What is amelogeninesis imperfecta?

A
  • a disorder of tooth development
  • this disorder causes teeth to be unusually small, discolored. pitted or grooved and prone to rapid wear and breakage. O
36
Q

Does amelogenin occur in primary or permanent teeth?

A
  • both
37
Q

What is the main protein important in forming enamel?

A
  • amelogenin
38
Q

When you see an X on the mutation chart what does it mean?

A
  • truncated/ termination
39
Q

What happens to mouse when given amelx knockout?

A
  • incisors wear quickly
  • sclaped
  • no enamel
40
Q

Ameloblastin

A

another protein that is present in enamel

- deletion of ameloblastin exon 6 is associated with amelogeneissi imperfecta

41
Q

What proetein makes up 10% of enamel matrix?

A
  • ameloblastin

70kDa protein

42
Q

What protein makes up 5% of enamel matrix?

A
  • enamelin

186kDa protein

43
Q

What protein has a splice 7 insertion?

A
  • enamelin
44
Q

Amelotin

A
  • a potential canidate gene for amelogenesis imperfecta
  • more recently studied
  • present in knockout mice
45
Q

What happens when there is deletion of amelotin exons 3-6 ?

A
  • amelogenesis imperfecta
46
Q

What is WRD72?

A
  • a new gene responsible for amelogenesis imperfecta with less functional information
47
Q

What is WRD72’s function?

A
  • regulator of enamel formation

- without this gene enamel doesn’t mineralize properly

48
Q

What is the gene that is important for hydorxyapatite crytsal formation?

A
  • C4orf26
49
Q

What is enamelysin (MMP20)?

A
  • a metalloproteinase that degrades amelogenin

- if you dont remove amelogenin itll be less dense and wears easily

50
Q

Mutations to these genes affect enamel development and give rise to amelogenisis imperfecta?

A
  • amelogenin
  • ameloblastin
  • enamelin
  • amelotin
  • WRD72
  • C4orf26
  • Enamelysin (MMP20)
  • kalliklein
51
Q

What is kalliklien?

A
  • serine protease which digest enamel matrix
52
Q

What is the major component found in dentin?

A
  • type 1 collagen
53
Q

What is dentinogenesis imperfecta?

A
  • a disorder of tooth development
54
Q

What is a symptom of dentinogenesis imperfecta?

A
  • teeth are discolored (blue-gray or yellow brown) and translucent
  • weaker than normal
  • prone to rapid wear, breakage, and loss
55
Q

Does dentinogenesis only occur in deciduous teeth?

A
  • no it occurs in primary teeth as well
56
Q

What is type 1 dentinogenesis imperfecta?

A
  • type 1 occurs in people who have osteogenesis imperfecta, a genetic condirion in which bones are brittle and easily broken
  • the primary teeth tend to be more severly affected than the permanent teeth
57
Q

What is type II and III dentinogensis imperfecta?

A
  • usually occurs in people without inherited disorders

- In type II both dentitions are equally affected

58
Q

What is a characteristic of type III dentinogenesis imperfecta?

A
  • the dentin is extremely thin and the pulp chamber is extremely enlarged
  • the teeth in type III are often reffered to as shell teeth
59
Q

Shell teeth are found in?

A

individuals with type III dentinogenesis imperfecta

60
Q

T/F type I collagen genes are associated with osteogenesis imperfecta

A

True

61
Q

What disorder occurs as part of osteogenesis imperfecta?

A
  • Type I dentinogenesis imperfecta

- caused by mutations inn one of several other genes (most often the COL1A`1 or COL1A2)

62
Q

What has been suggested as a causative factor in dentinogenesis imperfecta?

A
  • A deficiency of dentin sialophosphoprotein (DSPP)

- Type II or III

63
Q

What is more severe effects DI-DIII or DD?

A
  • DI-III
64
Q

Dentin dysplasis results when?

A
  • there is a mutation (Y6D) in a signal peptide of DSPP resulting in the reduction of the amount of secreted DSPP protein into dentin matrix
65
Q

What is a strong indicator of a recessive trait?

A
  • affected children resulting from a consanguinity family
66
Q

What is the most common genetic disorders?

A
  • craniofacial skeleton and dentition disorders
67
Q

What is the function of amelogenin?

A
  • stabilizes the amorphous Ca-P phase, control of apatite crystal morphology and organization, control of enamel thickness.
  • Amelogenins have the ability to self-assemble into nanosperes and thereby guide HAP crystal formation/growth
68
Q

What is the function of ameloblastin?

A
  • cell adhesion protein, controls cell differentiation, maintains rod integrity, forms dentin
69
Q

What is the function of enamelin?

A
  • cooperates with amelogenin to control mineral nucleation and elongated growth
70
Q

What is the function of kallikrin 4?

A
  • digests enamel proteins during maturation stage facilitating their removal and hardening the final layer of enamel
71
Q

What is the function of mmp-20?

A
  • cleaves amelogenin , ameloblastin, and enamelin at the secretory stage to produce stable intermediates with defined functions

Biochemistry (Cole) (25 decks)

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