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DIT > Biochemistry > Flashcards

Biochemistry Flashcards

1
Q

Metalloproteinase

A

breakdown collagen for remodeling (ie destabilize arterial plaques)

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2
Q

Prolyl hydroxylase

A

hydroxylation of proline on pro collagen to form a stable collagen triple helix (stabilizes collagen)

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3
Q

Lysyl oxidase

A

strengthens collagen fibers by converting lysine to aldehyde (stabilizes collagen)

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4
Q

Procollagen peptidase

A

cleaves the terminal ends of pro collagen molecules to form insoluble tropocollagen that will aggregate to form collagen fibrils

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5
Q

Ehlers-Danlos pts have a deficiency of what enzyme

A

Procollagen peptidase –> disorganized collagen bundles

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6
Q

Tetrahydrobiopterin

A

cofactor in the synthesis of DA, 5-HT, & Tyrosine (DA & melanin precursor)

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7
Q

Nucleosome

A

core of histones (H2A, H2B, H3, H4) + DNA

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8
Q

Histones are composed of what a.a.?

A

Arginine & lysine === positive-charge

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9
Q

DNA is negatively charges d/t

A

phosphates

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10
Q

Linker histone

A

H1

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11
Q

Deamination of cytosine

A

uracil

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12
Q

Which nucleotides raise the melting temp of DNA?

A

Cytosine & Guanine rich DNA (3H bonds)

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13
Q

Which a.a. are necessary to make purines?

A

glycine, glutamine, & aspartate

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14
Q

What 5 substances are needed to make a purine?

A

glycine, glutamine, & aspartate + tetrahydrofolate & CO2

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15
Q

Which a.a. are necessary to make pyrimidines?

A

aspartate & glutamine

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16
Q

What 4 substances are needed to make a pyrimidines?

A

aspartate, CO2, glutamine, ATP

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17
Q

Carbamoyl phosphate

A

necessary for pyrimidine synthesis, composed from CO2, glutamine, & ATP

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18
Q

Rate-limiting step for pyrimidine synthesis

A

Carbamoyl phosphate synthetase-2 (CPS-2)

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19
Q

CPS-2

A

Pyrimidine synthesis, found in cytosol, Nitrogen source is Glutamine

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20
Q

CPS-1

A

Urea cycle, found in mitochondria, Nitrogen source is Ammonia

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21
Q

CPS-2 catalyzes

A

CO2+ glutamine + ATP –> Carbamoyl phosphate

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22
Q

Orotic aciduria disease: deficiency in

A

UMP synthase

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23
Q

Ribonucleotide reductase catalyzes

A

UDP –> dUDP (pyridine synthesis)

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24
Q

What drug inhibits Ribonucleotide reductase?

A

Hydroxyurea

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25
Q

Hydroxyurea is used to treat

A

Sickle Cell

Chemotherapeutic (CML, melanoma)

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26
Q

Thymidylate synthase catalyzes

A

dUMP –> dTMP (pyridine synthesis)

Tetrahydrofolate is used in this step

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27
Q

Dihydrofolate reductase catalyzes

A

dihydrofolate —> tetrahydrofolate for the conversion of dUMP -> dTMP

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28
Q

Which drug inhibits Thymidylate synthase?

A

5-Flourouracil (uracil analog)

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29
Q

5-Flourouracil is used to treat?

A

Chemotherapeutic agent (adenocarcinoma, colon)

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30
Q

Which drug inhibits Dihydrofolate reductase?

A

Methotrexate & Trimethoprim (prokaryotes)

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31
Q

Orotic aciduria

A

AR disease that causes orotic aciduria + megaloblastic anemia (cannot synthesize pyrimidines)

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32
Q

Ornithine Transcarbamylase Deficiency

A

orotic aciduria + hyperammonemia

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33
Q

Tx of orotic aciduria?

A

Uridine supplement

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34
Q

Rate-limiting step of Puridine synthesis?

A

Glutamine PRPP Amidotransferase (PRPP -> IMP)

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35
Q

Which drug inhibits Glutamine PRPP Amidotransferase?

A

6-Mercaptopurine, Azathioprine (6-MP analog)

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36
Q

IMP dehydrogenase catalyzes

A

IMP —> GMP

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37
Q

Which drug inhibits IMP dehydrogenase?

A

Mycophenolate

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38
Q

Xanthine Oxidase catalyzes

A

Hypoxanthine –> xanthine

xanthine –> uric acid (purine degradation)

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39
Q

Which drug inhibits Xanthine oxidase?

A

Allopurinol

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40
Q

Allopurinol will increase the serum concentration of which drugs?

A

6-Mercaptopurine & Azathioprine

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41
Q

HGPRT catalyzes

A

Guanine &/or Hypoxanthine –> GMP &/or IMP (Purine salvage)

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42
Q

Lesch-Nyhan Syndrome - deficiency of

A

HGPRT enzyme (inability to salvage purines)

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43
Q

Lesch-Nyhan Syndrome Sx

A

gout, aggressive behavior, low IQ, self-mutilation (lip biting), movement disorder

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44
Q

Tx for Lesch-Nyhan Syndrome

A

Tx gout w/ Allopurinol or Febuxostate

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45
Q

Genetics of Lesch-Nyhan Syndrome

A

X-linked

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46
Q

SCID is most frequently caused by a deficiency in

A

Adenosine Deaminase

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47
Q

Adenosine deaminase catalyzes

A

adenosine –> inosine (purine degradation)

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48
Q

Rate-limiting step in purine synthesis?

A

Glutamine PRPP Amidotransferase

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49
Q

Rate-limiting step in pyrimidine synthesis?

A

CPS-2

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50
Q

The carbon source in purine synthesis comes from?

A

CO2, Glycine, Tetrahydrofolate

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51
Q

The carbon source in pyrimidine synthesis comes from?

A

Aspartate, CO2

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52
Q

Hydroxyurea

A

ribonucleotide reductase inhibitor

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53
Q

Methotrexate & Trimethoprim

A

Dihydrofolate reductase inhibitor

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54
Q

5-FU

A

Thymidylate synthase inhibitor

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55
Q

Mycophenolate

A

IMP dehydrogenase inhibitor

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56
Q

6-MP

A

PRPP amidotransferase inhibitor

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57
Q

Boy w/ self-mutilating behavior, low IQ, & gout

A

Lesch-Nyhan Syndrome (HGPRT def)

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58
Q

Orotic aciduria + hyperammonemia

A

Ornithine Transcarbamylase Deficiency

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59
Q

Orotic aciduria + normal serum ammonia

A

Orotic aciduria

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60
Q

Megaloblastic anemia that does not improve w/ folate or B12

A

Orotic aciduria

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61
Q

DNA Helicase

A

unwinds DNA during DNA replication

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62
Q

Topoisomerase

A

nicks DNA downstream to reduce the negative supercoils during DNA replication

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63
Q

Single Stranded Binding Proteins

A

Binds the the unwound DNA strands to stabilize the single strands

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64
Q

Which ABX class inhibits Topoisomerase?

A

Fluoroquinolones

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65
Q

Which chemotherapeutic agent inhibits Topoisomerase?

A

Etoposide

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66
Q

Etoposide is used to Tx?

A

solid tumors (Small cell lung carcinoma)

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67
Q

Auto-antibody that binds Topoisomerase?

A

Anti-Scl-70

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68
Q

Anti-Scl-70 is assoc w/

A

Diffuse Scleroderma

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69
Q

Primase

A

adds ribonucleotides to allow DNA pol III to bind

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70
Q

DNA polymerase III

A

binds double-stranded DNA and synthesizes in 5’->3’ direction (prokaryotes: both leading & lagging strand)

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71
Q

Primosome

A

DNA helicase + Primase complex

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72
Q

DNA polymerase I

A

removes ribonucleotides from RNA primer segment and replaces them w/ deoxyribonucleotides

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73
Q

DNA ligase

A

joints Okazaki fragments on lagging strand

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74
Q

Eukaryotic DNA pol alpha

A

synthesizes the lagging strand & synthesizes RNA primer

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75
Q

Eukaryotic DNA pol delta

A

synthesizes the leading strand

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76
Q

Eukaryotic DNA pol beta

A

DNA repair (Base-excision repair)

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77
Q

Eukaryotic DNA pol gamma

A

mitochondrial DNA replication

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78
Q

Silent mutation

A

single base mutation, often in the 3rd base –> same amino acid is coded

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79
Q

Missense mutation

A

single base mutation –> codes for a different amino acid

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80
Q

Nonsense mutation

A

single base mutation –> STOP codon

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81
Q

Frameshift mutation

A

addition/deletion mutation –> shifts reading frame

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82
Q

UV damage to DNA causes

A

pyrimidine dimer (thymidine cross-links on SAME DNA strand)

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83
Q

Mismatch repair

A

removes bases (including mismatched base) & replaces bases

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84
Q

Nucleotide excision repair

A

repair bulky DNA damage (UV damage)

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85
Q

Enzymes utilized in Nucleotide excision repair

A

endonuclease (removal/excision), DNA pol beta (insertion), DNA ligase (seals)

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86
Q

Base Excision Repair

A

removes just damaged base (small)

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87
Q

Enzymes utilized in Base excision repair

A

Glycosylase (removes damaged base)
Endonuclease (excises DNA backbone)
DNA pol beta & DNA ligase (insert/seal)

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88
Q

Non-Homologous End Joining

A

joins end of dsDNA break

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89
Q

Hereditary Nonpolyposis Colorectal Cancer - defective

A

mismatch repair

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90
Q

Xeroderma Pigmentosum - defective

A

nucleotide excision repair (UV light DNA damage)

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91
Q

Bloom Syndrome - mutation in

A

DNA helicase -> impaired DNA replication & repair

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92
Q

Ataxia Telangiectasia - defective

A

repair of dsDNA breaks (ionizing radiation DNA damage)

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93
Q

BRCA-1/-2 - defective

A

dsDNA break repair

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94
Q

Start codon

A

AUG -> Methionine

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95
Q

Stop codon

A

UGA, UAA, UAG

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96
Q

Which RNAs are synthesized in the nucleoplasm?

A

mRNA, tRNA

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97
Q

Which RNAs are synthesized in the nucleolus?

A

rRNA

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98
Q

Operon

A

transcribed gene + promoter + regulatory regions

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99
Q

Transcription factor

A

bind promoter regions (on/off)

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100
Q

What are the 3 main promoter regions?

A

-75 CCAAT box, -25 TATA box, -10 TATAAT box

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101
Q

Operator region

A

binds repressor or inducer, located b/w promoter and start site (on/off)

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102
Q

Response elements

A

enhancer or repressor region that increase or decrease the rate of transcription (rate control) may be located any distance from gene

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103
Q

Helix-loop-helix

A

allows protein to interact

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104
Q

Helix-turn-helix

A

allows protein to interact

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105
Q

Zinc finger

A

Zinc atom that incorporates into DNA

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106
Q

Leucine zipper protein

A

Many leucine residues, structural motif

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107
Q

What 2 conditions must be met for the lac operon to be turned on?

A

excess lactose + NO glucose

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108
Q

Lac operon activation causes transcription of

A

b-galactosidase

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109
Q

How does the absence of glucose contribute to turning on the lac operon?

A

when there is no glucose –> CAP (TF) binds the promoter region

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110
Q

How does excess lactose contribute to turning on the lac operon?

A

excess lactose –> lac repressor is released from the operator

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111
Q

Eukaryotic RNA pol 1

A

synthesizes rRNA

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112
Q

Eukaryotic RNA pol 2

A

synthesizes mRNA

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113
Q

Eukaryotic RNA pol 3

A

synthesizes tRNA

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114
Q

alpha-amanitin (mushroom toxin) inhibits

A

Eukaryotic RNA pol 2 leading to hepatotoxicity

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115
Q

Prokaryotic RNA pol

A

RNA pol 1 only

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116
Q

Which ABX inhibits RNA pol?

A

Rifampin

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117
Q

Hairpin Loop

A

termination of prokaryotic RNA transcription:
GC-rich regions of ssRNA binds forming a hairpin loop
Uracil rich region follows w/ weak bonds -> breaks off & RNA pol dissociates

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118
Q

Rho factor

A

RNA-dependent ATPase that knocks RNA pol off for termination of prokaryotic RNA transcription

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119
Q

S-adenosyl-methionine

A

attaches 7-methyl-guanosine cap to 5’ end of hnRNA

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120
Q

Poly-A-Polymerase

A

Adds adenines to 3’end of hnRNA

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121
Q

Spliceosome

A

splice out introns of hnRNA

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122
Q

mRNA processing requires

A

Addition of 5’ 7-methyl-guanosine cap
3’ Poly-adenosine tail
Splicing of introns

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123
Q

Aminoacyl tRNA synthase

A

matches amino acids to tRNA

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124
Q

Aminoacyl tRNA synthase always adds amino acids to

A

the 3’ end of the tRNA

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125
Q

Eukaryotic rRNA subunits

A

40S & 60S –> 80S

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126
Q

Prokaryotic rRNA subunits

A

30S & 50S –> 70S

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127
Q

50S subunit contains

A

23S ribosomal RNA

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128
Q

Initiation of translation

A

Initiation factor-2 (IF-1, IF-2, IF-3) binds 30S, then tRNA-Met, then binds 50S by hydrolyzing GTP

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129
Q

A site of the ribosome

A

binds all incoming aminoacyl tRNAs (except the 1st Met-tRNA)

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130
Q

P site of the ribosome

A

site of growing polypeptide chain (site where 1st Met-tRNA binds)

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131
Q

E site of the ribosome

A

exit site of free tRNA

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132
Q

Elongation factors

A

assist aminoacyl-tRNA binding to A site

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133
Q

Peptidyltransferase

A

w/in 23S rRNA

catalyzes the transfer of peptide chain from the P site to the a.a.-tRNA in the A site

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134
Q

Translocation

A

occurs during elongation, transfer tRNA form A to P site & slides the ribosome down to the next codon

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135
Q

Elongation factor-G

A

catalyzes translocation in prokaryotes

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136
Q

Elongation factor-2

A

catalyzes translocation in eukaryotes

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137
Q

What bacterial toxins inhibit EF-2?

A

Diptheria toxin & Exotoxin A

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138
Q

Termination

A

Release Factor causes dissociation of the polypeptide from the ribosome

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139
Q

Peptide modifications leading to functional protein

A

trimming, glycosylation, hydroxylation, phosphorylation

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140
Q

Which ABX binds the 30S subunit to prevent association w/ the 50S subunit?

A

Aminoglycosides

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141
Q

Which ABX bind 30S subunit to inhibit aminoacyl-tRNA from binding the A site?

A

Tetracyclines

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142
Q

Which ABX bind 50S subunit to inhibit peptidyltransferase?

A

Chloramphenicol

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143
Q

Which ABX bind 50S subunit to inhibit association w/ 30S?

A

Linezolid

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144
Q

Which ABX bind 50S subunit to inhibit translocation?

A

Macrolides, Clindamycin, Lindomycin, Streptogramin

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145
Q

AD pedigrees

A

M & F are affected, 50% of offspring, every generation

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146
Q

AR pedigrees

A

Non-successive generations, 25% of offspring

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147
Q

X-linked Recessive pedigrees

A

Typically only Males affected; females 50% of carrier, males of offspring 50% affected

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148
Q

X-linked Dominant pedigrees

A

all daughters of affected males will be affected

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149
Q

Mitochondrial Inheritance pedigrees

A

all offspring of affected mom will be affected

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150
Q

Anticipation

A

age of onset is earlier or more severe w/ successive generations

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151
Q

What disease is an example of anticipation?

A

Huntington Disease

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152
Q

Incomplete Penetrance

A

how often a mutant genotype causes a mutant phenotype

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153
Q

Pleiotrophy

A

1 gene causes many different effects (PKU)

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154
Q

Locus Heterogeneity

A

multiple mutations could cause the same phenotype (Marfans)

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155
Q

Codominance

A

both alleles are equally expressed (ABO type)

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156
Q

Variable expression

A

severity of phenotype varies in individuals (tuberous sclerosis)

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157
Q

Imprinting

A

phenotype differences depend on whether mutation came from mom or dad (angel man & prader-willi)

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158
Q

Prader-Willi Syndrome

A

maternal imprinting + paternal deletion on chromosome 15

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159
Q

Angelman Syndrome

A

paternal imprinting + maternal deletion on chromosome 15

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160
Q

Hardy-Weinberg Eq

A

p+q = 1

p^2 + 2pq + q^2 = 1

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161
Q

Northern blot

A

gel electrophoresis RNA samples + DNA probe

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162
Q

Southern blot

A

gel electrophoresis DNA samples + DNA probe

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163
Q

Western blot

A

gel electrophoresis protein samples + Antibody probe

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164
Q

Southwestern blot

A

DNA binding proteins

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165
Q

Direct ELISA

A

antibody in well + sample (Ag)

Does pt have X antigen?

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166
Q

Indirect ELISA

A

antigen in well + sample (Ab)

Does pt have X antibody?

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167
Q

Screening test for HIV?

A

Indirect ELISA

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168
Q

Confirmatory test for HIV?

A

Western blot

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169
Q

Kayotyping

A

Dx chromosomal imbalance

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170
Q

GLUT-1

A

found on RBCs & BBB

mediates basal glucose uptake

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171
Q

GLUT-2

A

found on hepatocytes & pancreatic b-cells

172
Q

GLUT-3

A

found on neurons & placenta

173
Q

GLUT-4

A

found on skeletal mm. & adipose tissue

insulin-dependent glucose uptake

174
Q

GLUT-5

A

Fructose uptake (esp in GIT)

175
Q

Hexokinase catalyzes

A

glucose –> glucose-6-phosphate (traps glucose in cell)

176
Q

Glucokinase catalyzes

A

glucose –> glucose-6-phosphate (traps glucose in cell)

found in liver & pancreatic b-cells

177
Q

Hexokinase kinetics

A

low Km, higher glucose affinity, low Vmax, not induced by insulin

178
Q

Glucokinase kinetics

A

High Km, high Vmax, induced by insulin

179
Q

Rate-limiting step of glycolysis

A

Phosphofructokinase-1

180
Q

What substances activate Phosphofructokinase-1?

A

AMP, Fructose-2,6-bisphosphate

181
Q

What substances inhibit Phosphofructokinase-1?

A

ATP, Citrate

182
Q

Pyruvate kinase catalyzes

A

Phosphoenolpyruvate –> Pyruvate

183
Q

What substances activate Pyruvate kinase?

A

Fructose-1,6-bisphosphate

184
Q

What substances inhibit Pyruvate kinase?

A

ATP & Alanine

185
Q

Major Sx of Glycolytic enzyme deficiency?

A

Hemolytic anemia

186
Q

Most common Glycolytic enzyme deficiency?

A

Pyruvate Kinase deficiency

187
Q

High glycogen, elevated fructose-6-phosphate & low pyruvate?

A

Phosphofructokinase-1 deficiency

188
Q

How does insulin enhance glycolysis?

A

insulin –> activate PFK-2 –> high Fructose-2,6-bisphosphate (stimulates PFK-1)

189
Q

How does glucagon enhance gluconeogenesis?

A

glucagon –> activate FBPase-2 –> high Fructose-6-phosphate (for gluconeogenesis)

190
Q

PFK-2 catalyzes

A

Fructose-6-phosphate —> Fructose-2,6-bisphosphate

191
Q

FBPase-2 catalyzes

A

Fructose-2,6-bisphosphate –> Fructose-6-phosphate

192
Q

Rate-limiting step of gluconeogenesis

A

Fructose-1,6-bisphosphatase

193
Q

Pyruvate carboxylase catalyzes

A

pyruvate –> oxaloacetate

194
Q

Pyruvate carboxylase requires what coenzyme

195
Q

What substance stimulates Pyruvate carboxylase?

A

Acetyl-CoA

196
Q

PEP carboxylase catalyzes

A

oxaloacetate –> PEP

197
Q

Fructose-1,6-bisphosphatase catalyzes

A

Fructose-1,6-bisphosphate –> Fructose-6-phosphate

198
Q

What substances activates Fructose-1,6-bisphosphatase?

199
Q

What substances inhibit Fructose-1,6-bisphosphatase?

A

AMP & Fructose-2,6-Bisphosphate

200
Q

Glucose-6-phosphatase catalyzes

A

Glucose-6-phosphate –> Glucose (untraps glucose from cell)

201
Q

Rate-limiting enzyme of de novo pyrimidine synthesis?

202
Q

Rate-limiting enzyme of de novo purine synthesis?

A

Glutamine PRPP amidotransferase

203
Q

Rate-limiting enzyme of glycogen synthesis

A

glycogen synthase

204
Q

Rate-limiting enzyme of glycogenolysis

A

glycogen phosphorylase

205
Q

Rate-limiting enzyme of TCA cycle?

A

isocitrate dehydrogenase

206
Q

Rate-limiting enzyme of hexose monophosphate shunt?

A

glucose-6-phosphate dehydrogenase

207
Q

UDP-glucose pyrophosphorylase catalyzes

A

Glucose-1-phosphate –> UDP-glucose

208
Q

Glycogen synthase catalyzes

A

UDP-glucose –> alpha-1,4-glycosidic linkages

209
Q

Branching enzyme catalyzes

A

UDP-glucose –> alpha-1,6-glycosidic linkages

210
Q

Glycogen phosphorylase catalyzes

A

alpha-1,4-glycosidic linkages –> Glucose-1-phosphate

211
Q

Phosphoglucomutase catalyzes

A

Glucose-1-phosphate –> Glucose-6-phosphate

212
Q

Glucose-6-phosphatase catalyzes

A

Glucose-6-phosphate –> Glucose

213
Q

alpha-1,6-glucosidase catalyzes

A

alpha-1,6-glycosidic linkages –> Glucose

214
Q

McArdle Disease - deficient

A

Glycogen phosphorylase

215
Q

McArdle Disease Sx

A

glycogen build-up in mm. -> rhabdomyolysis -> myoglobinemia -> renal failure
mm. cramping

216
Q

Von Gierke Disease - deficient

A

glucose-6-phosphatase

217
Q

Von Gierke Disease Sx

A

severe hypoglycemia, hepatomegaly (glycogen in liver), B/L enlarged kidneys, high serum lactate, uric acid & triglycerides

218
Q

Von Gierke Disease Tx

A

frequent feedings + corn starch at night

219
Q

Cori Disease - deficient

A

alpha-1,6-glucosidase

220
Q

Cori Disease Sx

A

mild hypoglycemia, hepatomegaly, hyperlipidemia; normal lactate & uric acid

221
Q

Pompe Disease - deficient

A

alpha-1,4-glucosidase in lysosomes

222
Q

Pompe Disease - infantile form Sx

A

severe mm. weakness, cardiomegaly & heart failure, shortened life expectancy

223
Q

Pompe Disease - adult form Sx

A

gradual mm. weakness, diaphragm weakness, & respiratory failure; no cardiac involvement

224
Q

Pyruvate dehydrogenase catalyzes

A

Pyruvate —> Acetyl-CoA

225
Q

Pyruvate dehydrogenase cofactors

A

Thiamine pyrophosphate (B1) + Lipoic acid + Coenzyme A (B5), FAD (B2) + NAD+ (B3)

226
Q

Rate-limiting step of the TCA cycle

A

Isocitrate dehydrogenase

227
Q

Isocitrate dehydrogenase catalyzes

A

Isocitrate –> alpha-ketoglutarate

228
Q

Citrate Synthase catalyzes

A

Oxaloacetate + Acetyl-CoA –> citrate

229
Q

Alpha-ketoglutarate dehydrogenase catalyzes

A

alpha-ketoglutarate –> succinyl CoA

230
Q

What 4 end products can be made from pyruvate?

A

Oxaloacetate, Alanine, Acetyl-CoA, Lactate

231
Q

Which TCA cycle enzymes requires the same cofactors as pyruvate dehydrogenase?

A

Alpha-ketoglutarate dehydrogenase

232
Q

Arsenic can inhibit

A

Lipoic Acid

233
Q

Sx of arsenic exposure

A

diarrhea, vomiting, & GARLIC breath

234
Q

Complex I of the ETC

A

NADH reductase

235
Q

Complex II of the ETC

A

Succinate dehydrogenase + coenzyme Q

236
Q

Complex III of the ETC

A

cytochrome b + c1

237
Q

Complex IV of the ETC

A

cytochrome a + a3

238
Q

ATPase of the ETC

A

high [H+] in the inter membrane space is utilized by the ATPase to make ATP

239
Q

Uncoupling agents include

A

high-dose aspirin, 2,4-dinitrophenol

Thermogenin (brown fat)

240
Q

Uncoupling agents act to

A

allow H+ to permeate the inner mitochondrial membrane

241
Q

Cyanide inhibits the ETC at

A

complex IV (cytochrome a)

242
Q

Lactate dehydrogenase catalyzes

A

pyruvate –> lactic acid (in low O2 environment)

lactic acid –> pyruvate (in the liver)

243
Q

Major carriers of nitrogen from tissues?

A

Alanine, Glutamine

244
Q

What enzymes catalyze transamination rxns?

A

transaminases

245
Q

Transaminases catalyze

A

transfer of nitrogen from an amino acid to alpha-ketoglutarate –> Glutamate

246
Q

Alanine transaminase (ALT) catalyzes

A

alanine + a-ketoglutarate –> pyruvate + glutamate

247
Q

Aspartate transaminase (AST) catalyzes

A

aspartate + a-ketoglutarate –> oxaloacetate + glutamate

248
Q

What cofactor is required by all transaminases?

A

pyridoxal phosphate (Vit B6)

249
Q

What are the major regulatory enzymes of the TCA cycle?

A

Citrate synthase, Isocitrate dehydrogenase, alpha-ketoglutarate dehydrogenase

250
Q

HMP Shunt - main objective

A

make NAPDH

251
Q

G6PD catalyzes

A

G-6-P –> Ribulose-5-P + 2 NADPH

252
Q

NAPDH oxidase catalyzes

A

O2 —> O2- (oxidative burst)

253
Q

Superoxide dismutase catalyzes

A

O2- —> H2O2 (oxidative burst)

254
Q

Myeloperoxidase catalyzes

A

H2O2 –> HOCl (oxidative burst)

255
Q

Chronic Granulomatous Disease - deficient

A

NADPH oxidase

256
Q

Chronic Granulomatous Disease Sx

A

susceptibility to catalase (+) organisms (aspergillus & s. aureus)

257
Q

Glutathione Peroxidase catalyzes

A

H2O2 –> H2O

GSH —> GSSG (oxidizes Glutathione to reduce Oxygen radical in RBC)

258
Q

Glutathione Reductase catalyzes

A

GSSG –> GSH

NAPDH –> NADP+ (uses NAPDH to reduce glutathione in RBC)

259
Q

G6PD catalyzes

A

NAPD+ –> NADPH

G6P –> 6PG (uses G6P to regenerate NADPH in RBC)

260
Q

G6PD deficiency

A

can’t regenerate NAPDH -> susceptible to reactive oxygen species -> hemolytic anemia

261
Q

What histological features are seen in G6PD deficiency?

A

Heinz bodies + Bite cells

262
Q

What drugs may precipitate hemolytic anemia in G6PD deficient pts?

A

Sulfonamides, Primaqine, Nitrofurantoin, Isoniazid, Fava beans, Dapsone, Chloroquine

263
Q

Essential Fructosuria - deficiency of

A

Fructokinase

264
Q

Essential Fructosuria - Sx

A

fructose in urine

265
Q

Fructose Intolerance - deficiency of

A

Aldolase B

266
Q

Fructose Intolerance - Sx

A

hypoglycemia, vomiting, hepatomegaly, jaundice

267
Q

Galactokinase Deficiency - deficiency of

A

galactokinase

268
Q

Galactokinase Deficiency - Sx

269
Q

Classic Galactosemia - deficiency of

A

galactose-1-phosphate uridyltransferase

270
Q

Classic Galactosemia - Sx

A

cataracts, jaundice, hepatomegaly, failure to thrive, low IQ

271
Q

Lactose Intolerance - deficiency of

272
Q

Lactose Intolerance - Sx

A

bloating, gas, osmotic diarrhea

273
Q

Kwashiorkor cause

A

protein malnutrition

274
Q

Kwashiorkor Sx

A

fatty liver, edema, anemia, skin lesions

275
Q

Marasmus cause

A

total energy malnutrition

276
Q

Heterochromatin

A

condensed & inactive DNA

277
Q

Euchromatin

A

less condensed & active DNA

278
Q

DNA methylation at CpG islands causes

A

repression of transcription (mute)

279
Q

Histone methylation causes

A

mainly reversible repression (mute)

280
Q

Unambiguous codon feature means

A

a codon codes for ONE a.a.

281
Q

Degenerate codon feature means

A

many codons code for the same a.a.

282
Q

Origin of replication begins at

A

a consensus sequence

283
Q

Example of disease resulting from a missense mutation

A

Sickle Cell (valine replaces glutamic acid)

284
Q

Example of disease resulting from a frameshift mutation

A

Duchenne muscular dystrophy

285
Q

Splicing

A

snRNPs form lariat -> excision to release intron

286
Q

Antibodies to snRNPs

A

Anti-Smith

Anti-U1 RNP

287
Q

Abnormal splicing example of disease

A

b-thalassemia

288
Q

acceptor stem of tRNA

289
Q

T-arm of tRNA

A

thymine, pseudouridine, cytosine

290
Q

D-arm of tRNA

A

dihydrouracil

291
Q

tRNA wobble

A

first 2 nucleotides are required for base pairing of mRNA

292
Q

Post-translational trimming

A

removal of N- or C-terminus from propeptides

293
Q

Chaperone protein

A

assists in protein folding

294
Q

Heat-shock protein

A

chaperone protein in yeast that prevents denaturing by high temp

295
Q

What proteins prevent G1-S transition?

A

p53 & hypophosphylated Rb

296
Q

What cells remain in permanent G0?

A

neurons, skeletal & cardiac mm., RBCs

297
Q

What cells are quiescent?

A

hepatocytes & lymphocytes

298
Q

What cells are labile?

A

continuously dividing: bone marrow, gut epithelium, skin, hair, germ cells

299
Q

RER is site of

A

synthesis of exported proteins & N-linked oligosaccharide addition

300
Q

SER is site of

A

steroid synthesis & detoxification

301
Q

What cells are rich in SER?

A

hepatocytes (detox) & adrenal cortex (steroid synth)

302
Q

Free ribosomes are site of

A

cytosolic & organellar protein synth

303
Q

What cells are rich in RER?

A

Goblet cells (mucus secretion) & plasma cells (Ab secretion)

304
Q

What tags proteins for lysosomes?

A

mannose-6-phosphate

305
Q

Golgi Protein Modifications:

A

Modifies N-oligosaccharide on Asparagine

Adds O-oligosaccharide on Serine & Threonine

306
Q

I-cell Disease - deficient

A

phosphotansferase -> decreased mannose-6-phosphate -> excretion of lysosomal enzymes

307
Q

Signal Recognition Particle

A

cytosolic ribonucleoprotein -> sends proteins from ribosome to the RER

308
Q

Absent Signal Recognition Particle results in

A

protein accumulation in the cytosol

309
Q

COP-II vesicular trafficking protein

A

sends stuff from ER to Golgi to vesicles (ANTEROGRADE)

310
Q

COP-I vesicular trafficking protein

A

sends stuff from Golgi to ER

RETROGRADE

311
Q

Peroxisome

A

degrades very-long-chain FAs & branched FAs & a.a.

312
Q

Proteasome

A

degrades damaged or ubiquitin-tagged proteins

313
Q

MT structure

A

heterodimers of alpha- & beta-tubulin w/ 2GTP bound

314
Q

Dynein

A

moves stuff retrograde (toward negative stable end)

315
Q

Kinesin

A

moves stuff anterograde (toward positive growing end)

316
Q

Cilia structure

A

9+2 MT arrangement

317
Q

Axonemal Dynein

A

links MTs in cilia -> differential sliding of MTs results in bending of the cilia

318
Q

Kartagener Syndrome - defect

A

dynein arm -> immotile cilia

319
Q

Kartagener Syndrome - Sx

A

Situs inversus
Bronchiectasis
Chronic sinusitis
Infertility, risk of ectopic pregnancy

320
Q

Which drug directly inhibits the Na/K-ATPase?

A

Digoxin & Digitoxin (reduced Na/Ca-exchanger to increase [Ca]ic -> increased contractility)

321
Q

Type I Collagen

A

Bone, skin, tendons, dentin, fascia, cornea

322
Q

Type II Collagen

A

Cartilage, vitreous body, nucleus pulposus

323
Q

Type III Collagen

A

Blood vessels

324
Q

Type IV Collagen

A

Basement Membrane

325
Q

Reduced production of Type 1 Collagen

A

Osteogenesis imperfecta type 1

326
Q

Deficient Type 3 Collagen

A

Vascular type of Ehlers-Danlos

327
Q

Antibodies to type IV collagen found in glomerular BM

A

Anti-GMB in

Goodpastures Syndrome

328
Q

Collagen is 1/3 made up of

329
Q

What proteins inactivate CDK-Cyclin complexes?

A

p21, p27, p57

330
Q

Cyclins are degraded by

A

ubiquitin protein ligase

331
Q

Cyclin D complexes w/

332
Q

CyclinD/CDK4 complex

A

phosphorylates Rb -> release from E2F (TF)

333
Q

Nuclear Localization Signal is rich in

A

Proline, Arginine, Lysine

334
Q

Preprocollagen

A

alpha chains of glycine & usually proline & lysine

335
Q

Collagen Synthesis - Hydroxylation of

A

Proline, Lysine (Vitamin C required)

336
Q

Collagen Synthesis - Glycosylation of

A

Hydroxylysine

337
Q

Procollagen

A

d/t addition of Hydrogen & Disulfide bonds

338
Q

Tropocollagen formed in ______ by

A

ECS by cleavage of Disulfide-rich terminals

339
Q

Collagen Fibril formation is catalyzed by

A

Lysyl Oxidase-Cu2+

340
Q

Lysyl Oxidase-Cu2+ catalyzes

A

covalent cross-linkage of Lysine & Hydroxylysine for collagen fibril formation

341
Q

Scurvy - pathogenesis

A

Inability to hydroxylate Proline, Lysine d/t deficiency in Vitamin C

342
Q

Scurvy - Sx

A

Poor wound healing, swollen gums, anemia, bleeding, petechiae, tooth loss

343
Q

Menkes Disease - defective

A

Copper absorption/transport -> decreased Lysyl oxidase activity -> decreased collagen fibril synthesis

344
Q

Menkes Disease - Sx

A

brittle “kinky” hair, growth retardation, hypotonia

345
Q

Elastin is rich in

A

proline, glycine

346
Q

Elastase

A

breaks down elastin

347
Q

alpha-1-antrypsin

A

inhibits elastase

348
Q

Fibrillin

A

glycoprotein sheath that holds tropoelastin molecules together as elastin

349
Q

Defect in Fibrillin

A

Marfan Syndrome

350
Q

Marfan Syndrome - Sx

A

Hyperelastic joints, heart valve & aorta problems, aortic dissection, arachnodactyly, very tall, long arms & legs, pectus carinatum

351
Q

Imprinting involves

A

methylation of one allele -> silenced

352
Q

X-linked Dominant disorder

A

Hypophosphatemic rickets (phosphate wasting in PCT)

353
Q

“Ragged red fibers”

A

Mitochondrial myopathies

354
Q

Mitochondrial Inheritance disorders

A

Mitochondrial myopathies

355
Q

Mitochondrial myopathies - Sx

A

myopathy, lactic acidosis, CNS disease

356
Q

ADPKD - mutation in

A

PKD1 or 2 on chromosome 16

357
Q

ApoB-48

A

found on chylomicrons for transport from enterocytes to lacteals

358
Q

ApoB-100

A

found on VLDL, IDL, LDL for transport OUT of the liver; binds LDL receptor

359
Q

ApoE

A

extra remnant uptake

360
Q

ApoA-1

A

found on HDL, activates LCAT

361
Q

LCAT

A

transfers cholesterol from peripheral tissues to HDL

362
Q

CETP

A

exchanges cholesterol ester from HDL to LDL/VLDL/IDL in exchange for Triglycerides

363
Q

ApoC-II

A

Cofactor for lipoprotein lipase

364
Q

Hepatic lipase

A

modify IDL -> LDL of HDL-2 -> HDL-3 by removing TGs

365
Q

SRB1

A

receptor on the liver for HDL-2/3 particles

366
Q

Familial Hypercholesterolinemia - deficiency of

A

LDL receptors

367
Q

Familial Hypercholesterolinemia - Sx

A

tendinous xanthomas, corneal arcus, accelerated atherosclerosis, MI in young pt

368
Q

Hyperchylomicronemia - deficient

A

Lipoprotein lipase or ApoC2 (cofactor) -> inability to remove cholesterol & TGs from blood

369
Q

Hyperchylomicronemia - Sx

A

pancreatitis, HSM, pruritic xanthomas

370
Q

Hypertriglyceridemia

A

overproduction of VLDL

371
Q

Rate-limiting step of fatty-acid synthesis

A

Acetyl-CoA carboxylase

372
Q

Rate-limiting step of b-oxidation of fatty acid

A

carnitine acyltransferase-1

373
Q

Rate-limiting step of ketone body synthesis

A

HMG-CoA synthase

374
Q

Rate-limiting step of cholesterol synthesis

A

HMG-CoA reductase

375
Q

Essential Amino Acids

A 
Phenylalanine
Valine
Threonine
Tryptophan
Isoleucine
Methionine
Histidine
Leucine
Lysine
376
Q

What a.a. is the precursor for Histamine?

377
Q

What a.a. is the precursor for Porphyrin?

378
Q

What a.a. is the precursor for NO?

379
Q

What a.a. is the precursor for GABA?

380
Q

What a.a. is the precursor for S-adenosyl-methionine (SAM)?

A

Methionine

381
Q

What a.a. is the precursor for Creatine?

382
Q

What a.a. is the precursor for melatonin?

A

Tryptophan

383
Q

What a.a. is the precursor for Niacin?

A

Tryptophan

384
Q

What a.a. is the precursor for Serotonin?

A

Tryptophan

385
Q

What a.a. is the precursor for Melanin?

A

Phenylalanine

386
Q

What a.a. is the precursor for Dopamine, NE, & Epi?

A

Phenylalanine

387
Q

Rate-Limiting step of the Urea Cycle?

A

Carbamoyl phosphate synthase 2

388
Q

Deficiency in Ornithine Transcarbamylase

A

orotic aciduria, high carbamoyl phosphate, hyperammonemia

389
Q

Deficiency in Ornithine Transcarbamylase - Sx?

A

slurred speech, somnolence, vomiting, cerebral edema, blurred vision

390
Q

Deficiency in Ornithine Transcarbamylase - Tx?

A

low protein diet +/- phenyl butyrate, Benzoate, Biotin

391
Q

Phenylalanine hydroxylase catalyzes

A

phenylalanine –> tyrosine

392
Q

Cofactor for Phenylalanine hydroxylase

393
Q

Deficiency in Phenylalanine hydroxylase or BH4 cofactor?

394
Q

Deficiency of Homogenisate oxidase

A

Alkaptonuria

395
Q

Alkaptonuria Sx

A

homogentisic acid (brown) -> dark sclera, black urine, arthralgias

396
Q

Alkaptonuria Tx

A

Vit C, avoid phenylalanine

397
Q

Alpha-ketoacid hydrogenase deficiency

A

Maple Syrup Urine Disease

398
Q

Branched chain a.a.?

A

Isoleucine, Leucine, Valine

399
Q

Tyrosinase deficiency

400
Q

Decreased tryptophan d/t def neutral a.a. transporter?

A

Hartnup Disease

401
Q

Phenylalanine hydroxlase deficiency

402
Q

Cystathione synthase deficiency (or B6 cofactor def)

A

Homocysteinuria

403
Q

Deficient COLA renal transporters?

A

Cystinuria

404
Q

Deficient tetrahydrobiopterin (BH4)

405
Q

Pellagra

A

low levels of Niacin (Vit B3)

406
Q

Pellagra Sx

A

Dementia, Diarrhea, Dermatitis

407
Q

Sweet smelling urine - deficient

A

alpha-ketoacid dehydrogenase

408
Q

Musty smell

409
Q

Black urine

A

Alkaptonuria

410
Q

Lens dislocation

A

Homocysteinuria

411
Q

Cystine stones

A

Cystinuria

412
Q

PKU Tx

A

avoid phenylalanine, supplement tyrosine

avoid breast milk

413
Q

Fetal effects from mother w/ PKU?

A

brain damage “maternal PKU”

414
Q

Iron deficiency

A

Microcytic anemia

415
Q

Zinc deficiency

A

delayed wound healing, decreased body hair, hypogonadism, anosmia, dysgeusia (decreased smell & taste), rash around mouth, nose, eyes, anus, anorexia, diarrhea, growth retardation, impaired night vision, infertility

416
Q

Lead Poisoning

A

hearing prob, low IQ, peripheral neuropathy, Lead lines, bluish lines on gingiva (Burtons), anemia, and pain, Basophilic stipling

417
Q

Iron poisoning

A

hematemesis, abd pain, hypovolemic shock,
6-72 h: metabolic acidosis
2-8wks: scarring of GIT & obstruction

418
Q

Mercury Poisoning

A

affects the kidneys & brian, acrodynia, and pain

419
Q

Tx for Lead poisoning

A

Succimer, EDTA

infant w/ severe poisoning: Dimercaprol

420
Q

Decreased NADPH d/t lack of HMP enzyme

A

G6PD deficiency

421
Q

Inherited tubular amino acid transported

A

Cystinuria, Hartnup Ds

422
Q

Deficiency in homogentisic acid oxidase

A

Alkaptonuria

423
Q

Blocked degradation of branched chain a.a.

A

Maple Syrup Urine Ds

424
Q

Enzyme deficiency in Fructose intolerance

A

Aldolase B

425
Q

Enzyme deficiency in Essential fructosuria

A

Fructokinase

426
Q

Enzyme deficiency in Classic galactosemia

A

Galactose-1-phosphate uridyltransferase

DIT (22 decks)

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