Biochem p.72-81, 102-104 Flashcards

1
Q

What regulates cell cycle and activates CDKs?

A

Cyclines

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2
Q

What complex activates other proteins to coordinate cell cycle progression?

A

Cyclin-CDK complex

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3
Q

Does Rb gene need to be in a hypophosphorylated or hyperphosphorylated state in order to inhibit G1 to S phase?

A

Hypoooo

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4
Q

Gene mutations causing Li-Fraumeni syndrome?

A

p-53, Rb

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5
Q

Two examples of quiescent cells?

A

Hepatocytes, lymphocytes

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6
Q

Which 2 cell types are rich in RER?

A

Mucus-secreting goblet cells of the small intestine and antibody-secreting plasma cells

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7
Q

What is RER called in neurons?

A

Nissl bodies

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8
Q

What are 2 functions of RER?

A

Synthesis of secretory (exported) proteins and of N-linked oligosaccharide addition to many proteins.

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9
Q

What synthesizes cytosolic and organellar proteins?

A

Free ribosomes

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10
Q

Which cells are rich in SER?

A

Liver hepatocytes and steroid hormone–producing cells of the adrenal cortex and gonads

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11
Q

What are 3 functions of Golgi?

A

Modifies N-oligosaccharides on asparagine. Adds O-oligosaccharides on serine and threonine. Adds mannose-6-phosphate to proteins for trafficking to lysosomes

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12
Q

Another name for I-cell disease?

A

Inclusion cell dz

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13
Q

What kind of storage disorder is I-cell dz?

A

inherited lysosomal storage disorder

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14
Q

Defective enzyme in I-cell dz?

A

defect in N-acetylglucosaminyl-1-phosphotransferase

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15
Q

Failure of the Golgi to phosphorylate mannose residues on glycoproteins causes the decrease of what substance in which dz?

A

decr mannose -6-phosphate

I-Cell dz

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16
Q

What are some findings in I-cell dz?

A

coarse facial features, clouded corneas, restricted joint movement, and high plasma levels of lysosomal enzymes

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17
Q

Absent or defective Signal recognition particle (SRP) causes what?

A

Protein accumulation in the cytosol

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18
Q

LDL receptor activity is an example of?

A

receptor mediated endocytosis/ Endosomes

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19
Q

Mode of transport of Clathrin?

A

trans-Golgi –> lysosomes; plasma membrane–> endosomes

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20
Q

Name the membrane-enclosed organelle involved in catabolism of very-long-chain fatty acids, branched-chain fatty acids, and amino acids?

A

Peroxisome

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21
Q

Name the barrel-shaped protein complex that degrades damaged or ubiquitin-tagged proteins?

A

Proteasome

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22
Q

Defects in the ubiquitin-proteasome system have been implicated in some cases of?

A

Parkinson dz

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23
Q

Example of Microfilaments?

A

Actin

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24
Q

Examples of intermediate filaments:

A

Vimentin, desmin, cytokeratin, lamins, glia fibrillary acid proteins (GFAP), neurofilaments

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25
Q

Example of microtubules:

A

Cilia, flagella, mitotic spindle, axonal trafficking, centrioles.

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26
Q

Stain used for Connective tissue?

A

Vimentin

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27
Q

Stain used for Muscle?

A

desMin

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28
Q

Stain used for Epithelial cells?

A

Cytokeratin

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29
Q

Stain used for NeuroGlia?

A

GFAP

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30
Q

Stain used for neurons?

A

Neurofilaments

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31
Q

Cylindrical structure composed of a helical
array of polymerized heterodimers of α- and
β-tubulin

A

Microtubule

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32
Q

Drugs that act on microtubules? (Microtubules

Get Constructed Very Poorly):

A
Mebendazole (antihelminthic)
ƒƒGriseofulvin (antifungal)
ƒƒColchicine (antigout)
ƒƒ Vincristine/Vinblastine (anticancer)
ƒƒ Paclitaxel (anticancer)
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33
Q

retrograde transport to microtubule (+ to Ž −).

A

Dynein

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34
Q

anterograde transport to microtubule (− to Ž +)

A

Kinesin

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35
Q

stuctural arrangement of microtubule

A

9 + 2

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36
Q

Name the ATPase that links peripheral
9 doublets and causes bending of cilium by
differential sliding of doublets?

A

Axonemal dynein

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37
Q

Another name for Kartagener syndrome

A

1° ciliary dyskinesia

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38
Q

Whats the defect in Kartgner syndrome?

A

immotile cilia due to a dynein arm defect

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39
Q

Which dz can cause bronchiectasis, recurrent

sinusitis, and situs inversus

A

Kartagener dz

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40
Q

What are the risks of pregnancy in Kartagners pts? and why?

A

dysfunctional fallopian
tube cilia can cause ectopic
pregnancy

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41
Q

What poison inhibits Sodium-potassium pump by binding to K+ site.

A

Ouabain

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42
Q

Digoxin inhibits which pump directly and which one indirectly?

A

directly inhibit the Na+-K+ ATPase, which

leads to indirect inhibition of Na+/Ca2+

43
Q

Digoxin incr HR or contractility or both?

A

contractility

44
Q

Most abundant protein in the human body?

A

Collagen

45
Q

Where does Collagen get organizes and strengthened?

A

extracellular matrix

46
Q

Most common (90%) type of collagen?

A

type I

47
Q

Which type of collagen is for late wound repair?

A

type I

48
Q

Type of collagen in vitreous body and nucleus pulposus.

A

Type II

49
Q

Type of collagen in the lens?

A

type IV

50
Q

Skin is made out of which 2 types of collagen?

A

typeIII and I

51
Q

what type of collagen is granulation tissue?

A

type III

52
Q

2 Path associated with collagen type IV?

A

Alport syndrome, Goodpasture syndrome.

53
Q

What is preprocollagen?

A

Translated collagen α chains containing Gly-X-Y (X and Y are proline or lysine).

54
Q

Which collagen synthesis steps take place in RER?

A

1) Synthesis (translation)
2) Hydroxylation
3) Glycosylation

55
Q

What collagen synth steps happen outside fibroblasts?

A

proteolytic processing, cross-linking

56
Q

In which step of collagen sysnth is vit C required?

A

Hydroxylation of proline and lysine residues

57
Q

Problems forming what structure in which step is seen in Osteogenesis Imperfecta?

A

formation of triple helix in Glycosylation step–> can’t make Procollagen

58
Q

2 Paths with cross-linking of collagen fibrils?

A

Ehlers-Danlos syndrome, Menkes disease.

59
Q

Which enzyme need copper for cross-linking?

A

Lysyl oxidase

60
Q

What is Tropocollagen?

A

Procollagen that becomes insoluble by cleavage of it’s disulfide-rich terminal regions

61
Q

What is the MC form of AD dz with decreased production of type I collagen?

A

Osteogenesis imperfecta

62
Q

T or F? OI pts have normal limb growth.

A

False! limb shortening due to multiple fractures

63
Q

T or F? Ehler-Danlos can be AD or AR.

A

T
dermatosparaxis and kyphoscoliosis types–> AR
arthrochalasia, classical, hypermobility, vascular forms–>AD

64
Q

Name the 3 types of Ehler-Danlos dz and their collagen type defects?

A

-MC type: Hypermobility type (joint instability)
-Classical type (joint and skin symptoms): caused
by a mutation in type V collagen.
-Vascular type (vascular and organ rupture):
deficient type III collagen.

65
Q

Brittle, “kinky” hair, growth retardation, and hypotonia is seen in which X-linked recessive connective tissue dz?

A

Menkes

66
Q

What gives elastin its elastic properties?

A

Cross-linking that takes place extracellularly

67
Q

Which glycoprotein forms a sheath around elastin? And a defect in it is seen in which path?

A

fibrillin, Marfan syn

68
Q

A diagnostic tool for neonatal HIV, herpes encephalitis is?

A

PCR

69
Q

2 essential components needed for PCR?

A

DNA fragment of interest
primers for the specific DNA regions
polimerase

70
Q

Confirmatory test for HIV after

⊕ ELISA?

A

Western blot

71
Q

Blot that would identify transcription factors?

A

SouthernWestern-blot for DNA-binding proteins

72
Q

Blot used for gene expression.

A

Northern blot to studying mRNA levels

73
Q

Whats the difference btw Southern and Northern blot?

A

Sother uses DNA sample and Northerner uses RNA.

74
Q

Which methos is used to profile gene expression levels of thousands of genes simultaneously to study certain diseases and treatments.

A

Microarrays

75
Q

Which method is able to detect single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) for a variety of applications including genotyping?

A

Microarrays

76
Q

Which method is used to detect the presence of either a specific antigen or a specific antibody in a patient’s
blood sample?

A

ELISA

77
Q

Is this method Direct or Indirect ELISA?

A

uses a test antibody to see if a specific antigen is present. The antibody is directly coupled to a color-generating enzyme to detect the antigen.

78
Q

This methos is used for specific localization of genes and direct visualization of anomalies (e.g., microdeletions), it is called?

A

Fluorescence in situ

hybridization

79
Q

At which sites does HMP-shunt occur?

A

lactating mammary glands, liver, adrenal cortex (sites of fatty acid or steroid synthesis), RBCs.

80
Q

HMP-shunt provides a source of —— from abundantly available ——.

A

NADPH, glucose-6-P

81
Q

which ptw of pentose phosphate pathway is irreversible?

A

Oxydative

82
Q

what is the RLE in the oxidative HMP-shunt?

A

G-6-PD

83
Q

What agents can decr NADPH in RBCs?

A

Sulfonamides, primaquine, antituberculosis drugs. Infection

84
Q

Bite cells are result from what process?

A

the phagocytic removal of Heinz bodies by splenic macrophages.

85
Q

What is the most common human enzyme deficiency?

A

X-linked recessive G-6-PD

86
Q

What enzyme is defective in Essential fructosuria?

A

Fructokinase

87
Q

What enzyme defi presents with hypoglycemia, jaundice, cirrhosis, vomiting after consumption of honey. Urine dipstick will be ⊝ (tests for glucose only);

A

Occurs with fruit and juice as well. Hereditary deficiency of aldolase B.

88
Q

What substance accumulates in Fructose intolerance?

A

Fructose-1-phosphate accumulates

89
Q

Enzyme def that presents with infantile cataracts, failure to track objects or to develop a social smile?

A

Galactokinase deficiency

90
Q

Enzyme def that causes accumulation of toxic substances including galactitol, which accumulates in the lens of the eye?

A

galactose-1-phosphate uridyltransferase

91
Q

What bacterial infection can be seen in Classic galactosemia?

A

E. coli sepsis in neonates.

92
Q

What cellshave only aldose reductase?

A

Schwann cells, retina, and kidneys, Lens (primary)

93
Q

What cell uses aldose reductase and Sorbitol dehydrogenase?

A

Liver, ovaries, and seminal vesicles

94
Q

Decrease of sorbital dehydrogenase can cause what pathologies?

A

osmotic damage: cataracts, retinopathy, and peripheral neuropathy seen with chronic hyperglycemia in diabetes

95
Q

Lactose tolerance test shows: —– pH and —–hydrogen content in breath.

A

decr, incr

96
Q

Acidic AAs?

A
Aspartic acid (Asp) and glutamic acid (Glu).
Negatively charged at body pH.
97
Q

Basic AAs?

A

Arginine (Arg), lysine (Lys), histidine (His). “HAL”
Arg is most basic.
His has no charge at body pH.

98
Q

Ammonia intoxication presents as?

A

tremor (asterixis), slurring of speech, somnolence, vomiting, cerebral edema, blurring of vision

99
Q

How does Lactulose work in what condition?

A

Lactulose acidifyes the GI tract and trap NH4+ for excretion in Hyperammonemia

100
Q

Which drug decr colonic ammoniagenic bacteria?

A

Rifaximin

101
Q

Which 2 drugs bind amino acid and lead to excretion of NH4? Also may be given to dcr ammonia levels?

A

Benzoate and phenylbutyrate, phenyacetate

102
Q

Ito cells when quiescent store — in ECM.

A

vit A

103
Q

Anaerobic glycosis is seen in:

A

RBC, WBC, kidney medulla, lens, testes, cornea