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Foundations test 3 > Structural Protein Disorders > Flashcards

Structural Protein Disorders Flashcards

1
Q

Quantity of CFTR in membrane is product of

A

RNA transcribed, efficiency of splicing, fraction correctly folded, and stability of protein in membrane

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2
Q

PTC and NMR

A

Premature termination codon

Nonsense mediated decay

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3
Q

Most common mutation of CF

A

DeltaF508…leads to improper folding of the protein and is degraded

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4
Q

Function of CFTR repends on

A

Activity of ion channel and efficiency of conductance of ions through the channel

Affected by G551D

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5
Q

Gain of function mutations

A

Promote abnormal interactions, increase interaction of mutated protein with natural binders, or promote misfolding/aggregation

Cause of most genetic dominance

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6
Q

Enamelin

A

Secreted by ameloblasts and ineracts with amelogenin to form molecular scaffolding of highly organized hydroxyapatite crystals

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7
Q

Amelogenesis Imperfecta (AI)

A

Mutation in enamelin
Large hypoplastic areas and horizontal rows of pits

Premature stop codon

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8
Q

AI dominant (x-linked)

A

P52R mutation in amelogenin or K53X mutation in enamelin

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9
Q

MMP20

A

Enamelysin

Processes amelogenin and enamelin as part of normal processing

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10
Q

MMP20 defects

A

Recessive cause (loss of function)

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11
Q

Recessive AI symptoms vs. dominant

A

Rec - thin and brittle teeth

Dom - grooved, pitter, abnormal

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12
Q

Gamma-secretase substrates/function

A

Type 1 transmembrane proteins..includeds APP and Notch

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13
Q

Presenilin

A

Makes up active side of gamma secretase

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14
Q

Mutation in presnilin effect

A

Soluble Abeta 40 decreases and more aggregation prone Abeta 42 increases

Cleave in down near 3 lysines at boundary of the mmbrane

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15
Q

How does gain of function come about in presenilin

A

Normally cleaves near position 50, now changed by single amino acid and produces 42

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16
Q

Bone composition

A

Organic - collagen and small amounts of proteoglycans

Inorganic - hydroxyapatite in the form of rod shaped crystals

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17
Q

Osteoblasts and osteocytes

A

Blasts - anabolic

Clasts - catabolic

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18
Q

Surface between osteoclast and bone

A

Resorption lacuna - provides acidic environment

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19
Q

Osteocytes

A

Osteoblasts that become buried in the bone matrix

20
Q

Cathespin K

A

Cleaves the triple helix of collagen 1,2 and osteonectin

21
Q

Cathespin K production

A

From osteoclasts as procathepsin K which is cleaved by acidic environment

22
Q

In absence of cathepsin K

A

Bone formation continues unabated - high mineral content, higher density and fragility

23
Q

Pyncnodysostosis

A

Cathespin K mutants (auto recessive)

24
Q

Pycnodysostosis symptoms

A

Moderate to short stature
Osteropetrosis - increased bone mineralization and density
Increased bone fragility lead to fractures (especailly clavicle)
Underdevelopment of tips of fingers including nails
Large head with small face, high forehead, dental abnormalities

25
Q

Hajdu-Cheney Syndrome

A

Auto dominant in the Notch receptor

Severe bone resorption leading to osteoporosis

26
Q

Hajdu-Cheney Syndrome symptoms

A

Poor bone flexibility, short statures, delayed speech and motor, skull malformations and fusions

27
Q

Mutation of of Hajdu-Cheney

A

in the Notch receptor, NICD domain,…makes it resistant to degradation, prolonging action in the nucleus

28
Q

Notch controls

A

Differentiation of osteoclasts

29
Q

Notch Hajdu-Cheney mutant shows

A

Decreased trabeculae, thinner and porous cortical bone

30
Q

Gamma secretase inhibitor will

A

Halt osteoclast differentiation

31
Q

Primary driver of FGF signaling

A

Interaction with ECM

32
Q

Embryonic FGF interactions

A

Antero-posterior patterning
Limbs
Neural induction and development

33
Q

Adult FGF interactions

A

Angiogenesis, keratinocyte, and wound healing

34
Q

FGF structure

A

3 extracellular Ig-type domains, a transmembrane domain, and an intracellular tyrosine kinase domain

35
Q

FGFs bind

A

Receptors (FGFR1-4) and glycosaminoglycans (GAGs) to form an activated, cell-surface complex

36
Q

FGFR1 disorders

A

Pfeiffer, Jackson-Weiss, Antley-Bixler, Osteoglophonic dysplasia, squamous cell lunger cancer, auto-dom Kallmann syndrome, and cleft lip/palate

37
Q

FGFR2 disorders

A

Apert, Beare-stevenson, Crouzon, Jackson-weiss, pfeiffer

38
Q

FGFR3 disorders

A

Achondroplasia, Crouzon, Hypochondroplasia, and Muenke Syndrome

39
Q

Muenke Syndrome symptoms

A

Craniosynostosis (misshapen head/coronal fusions)
Facial asymmetry
Carpal/tarsal bone fusions…braod thumbs and big toes
Mild to moderate sensorineural hearing loss and developmental delay sometimes

40
Q

Cause of Muenke Syndrome

A

P250R mutation in extracellular portion FGFR3 leads to gain of function andallowing bones to fuse sooner than normal

41
Q

Muenke syndrome inheritance

A

Auto-dom - chromosome 4

42
Q

2 symptoms with facial asymmetries

A

Crouzon and Muenke

43
Q

Achondroplasia mutation

A

Auto dominant, sporadic in 80% of cases

FGFR3 (G360R mutation)…leave FGF-FGFR3 on as a gain of function mutation and leaves short limb bones

44
Q

Achondroplasia symptoms

A

Large skull, prom forehead, short limbs, long trunk, spinal cord compression

45
Q

Normal FGF-FGFR3 function

A

Negative regulator of bone growth and inhibits production of cartilage by chondrocytes

46
Q

FGFR3 knock-out mice show

A

Long bones, elongated vertebrae, and long tails

47
Q

CNP mechanism

A

Binds to NPRB of the chondrocytes…creates competing signal that inhibits MAPK cascade that FGFR3 uses to slow bone growth…basically CNP has antagonistic role in bone growth compared to FGF

Foundations test 3 (15 decks)

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