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D1 Fall - Biochem > 11/7: Collagen Structure and Function II > Flashcards

11/7: Collagen Structure and Function II Flashcards

1
Q

What occurs when type I collagen goes wrong?

A

Osteogenesis imperfecta

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2
Q

What is osteogenesis imperfecta?

A

Brittle bone disease

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3
Q

What mutation is in Osteogensis imperfecta (brittle bone disease)?

A

COL1A1 and COL1A2

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4
Q

What disease is mostly autosomal dominant?

A

Type I osteogenesis imperfecta

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5
Q

Classical osteogenesis imperfecta is due to ________ or _______ abnormalities of type I collagen?

A

Quantitative; qualitative

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6
Q

Which type of osteogenesis imperfecta is the most common?

A

Type I osteogenesis imperfecta

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7
Q

What are symptoms of type I osteogenesis imperfecta?

A

Bones predisposed to fracture (must occur before puberty)
Normal sature/ blue sclera

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8
Q

What does functional null allele of COL1A1 or COL1A2 genes lead to?

A

No protein being produced from one allele

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9
Q

What occurs when trimers formed?

A

Normal (encoded by normal allele), but only half the normal amount of collagen produced - QUANTITATIVE DEFICIENCY

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10
Q

What kind of osteogenesis imperfecta is the most severe?

A

Type II

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11
Q

What does type II osteogenesis imperfecta lead to?

A

Numerous fractures and severe bone deformity
Short stature

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12
Q

What type of osteogenesis imperfecta is autosomal dominant and autosomal recessive?

A

Type II osteogenesis imperfecta

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13
Q

What do mutations in COL1A1 or COL1A2 produce?

A

Abnormal pro-alpha collagen chains, which become incorporated into collagen trimers

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14
Q

What type of osteogenesis imperfecta is progressive deforming type/bones fracture easily?

A

Type III

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15
Q

What does type III osteogenesis imperfecta result in?

A

Short stature, spinal curvature
severe boen deformity
blue sclera
mutations in COL1A1 and COL1A2

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16
Q

What type of osteogenesis imprfecta is autosomal dominant and sometimes autosomal recessive?

A

Type III osteogenesis imperfecta

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17
Q

What type of osteogenesis imperfecta is an intermediate between types I and II?

A

Type IV osteogenesis imperfevta

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18
Q

What type of osteogenesis imprfecta is a mutation in COL1A2 and rarely COL1A1?

A

Type IV

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19
Q

What does CRTAP (Cartilage associated protein) form a complex with?

A

Cyclophilin B (PPIB)
Prolyl 3-hydroxylase 1 (LEPRE1)
and hydroxylates type I collagen

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20
Q

What hydroxylates collagen alpha chain at one specific residue?

A

Prolyl-3-hydoxylase (LEPRE1)

21
Q

What does mutations in CRTAP cause?

A

defective 3-prolyl-hydroxylation (LEPRE1) which delays collagen folding

22
Q

What is type VII OI caused by?

A

hypomorphic CRTAP defect

23
Q

What does CRTAP null mutations result in?

A

Severe lethal form OI

24
Q

OI can be caused by mutations in _________ or in __________ of collagen biosynthesis

A

type 1 collagen; modifications/regulation

25
Q

What do more severe forms of OI have?

A

– Triangular shaped face
– Bossing of the forehead
– Low set ears
– Mid face deficiency/
malocclusions
– May have blue sclera

26
Q

What are oral manifestations of OI?

A
  • Brown/grey tooth color (esp. primary teeth)
  • Abnormal pulp chamber
27
Q

What is dentinogenesis imperfecta?

A

Hereditary disease of dentin

28
Q

What are symptoms of DI?

A

-Opalescent/brown teeth that wear easily
-bulbous crowns
-narrow roots
-Small/obliterated pulp chambers or enlarged pulp chambers
-frequent splitting of enamel from dentin under occlusal stress

29
Q

What type of DI occurs in families with OI (due to mutations in COL1A1 or COL1A2)?

A

Type I DI

30
Q

What type of DI is not associated with OI (Due to mutations in DSPP)?

A

Shields Type II

31
Q

What type of DI is “brandywine” type - occurs inr acial segregation in Maryland (due to mutations in DSPP)?

A

Shields Type III

32
Q

What is a caused by opalescent/brown teeth?

A

OI

33
Q

What occurs to teeth in OI patients?

A

more susceptible to wear/breakage and/or
enamel fracturing from teeth

34
Q

What is associated with abnormal collagen biosynthesis due to nutritional deficiency in Vitamin C (ascorbic acid)?

A

Scurvy

35
Q

What are symptoms of scurvy?

A

*Bleeding gums/mucous membranes
*Fragile blood vessels/petechial hemorrage of skin
*Loss of gingival and periodontal collagen fibers/anchoring
fibers - loosening of teeth
*Bone pain

36
Q

What is vitamin C an important co-factor for?

A

prolyl and lysyl hydroxylases that hydroxylate proline/lysine residues

37
Q

What occurs to unfolded procollagen if hydroxylation is prevented?

A

Retained in ER and/or degraded

38
Q

What does scurvy lead to?

A

Deficient collagen assembly- inability to renew connective tissue matrix

39
Q

What occurs when type II collagen goes wrong?

A

Chondrodysplasias

40
Q

What do mutations involving replacement of glycine by a bulkier amino acid in triple helical region of α1(II) chain cause?

A

ACGII-HCG

41
Q

What is ehlers danlos syndrome related to?

A

mutations in collagens and genes in the collagen biosynthetic pathway

42
Q

What is a result of fragility of soft CT?

A

Ehlers danlos syndrome

43
Q

What mutations is ehlers danlos linked to?

A

Mutations in genes encoding fibrillar collages (types III, V)

44
Q

What is an anti-glomerular basement antibody disease?

A

Goodpasture syndrome

45
Q

What occurs in goodpasture syndrome?

A

Autoantibodies produced against non collagenous domains of type IV collagen alpha 3 chain

46
Q

What is important in glomerular basement
membrane?

A

Type IV (alpha 3)

47
Q

What does goodpasture syndrome lead to?

A

problems with kidney filtration, blood in urine, burning sensation when urinating, nephritis, coughing up blood, fatigue, nausea, etc. - can lead to acute renal failure

48
Q
A

D1 Fall - Biochem (29 decks)

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