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LAST MINUTE! > Biochem > Flashcards

Biochem Flashcards

1
Q

Histones rich in;

A

lysine and arginine

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2
Q

DNA methylation for old vs new strands

A

cytosine and adenine

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3
Q

Purine synthesis needs

A

Glycine
Aspartate
Glutamine

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4
Q

pyrimidine synthesis needs:

A

Aspartate

Glutamine (to make carbamoyl phosphate)

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5
Q

ADA SCID mechanism

A

Cant turn Adenosine to Inosine, so all other base production is allosterically inhibited (ribonucleotide reductase)

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6
Q

AA with one 1 codon

A

Methionine (AUG)

Tryptophan (UGG)

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7
Q

DNA pol III vs pol I

A

Pol III = 5-3 synthesis with 3-5 proofreading exonuclease; most of TC
Pol I = 5-3 synthesis, 3-5 proofreading AND 5-3 exonuclease to chew the primer off; TC joining segments

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8
Q

RT in humans

A

Telomerase (shortened telomere sin Bloom)

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9
Q

mRNA read:

A

5’-3’

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10
Q

Thing missing in these diseases:

  • XP
  • HNPCC
  • FA, AT
A
  • XP = NER
  • HNPCC = MMR
  • FA, AT = NHEJ
  • BER for spontaneous/toxic deamination
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11
Q

Phase of fixing stuff:

  • NER
  • BER
  • MMR
A
  • NER = G1
  • BER = any
  • MMR = G2
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12
Q

fMET =

A

prok start codon

also PMN chemotaxis

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13
Q

a-amantadin

A

inhibits RNA pol II (mRNA) and hepatotoxicity and nephrotoxicity

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14
Q

rifampin vs actinomycinD

A 
rifampin = proks
dactinomycin = proks and euks

both inhibit RNA pols

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15
Q

P-bodies

A

cytoplasmic mRNA QC

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16
Q

CDK expression

A

constitutive but inactive until cyclin binds

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17
Q

Golgi:
@ asparginine
@ serine
@ threonine

A 
Asp = modificatoin of N-oligosaccharides
Ser = addition of O-oligosaccharides
Thre = addition of O-oligosarcharides
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18
Q

mannose-6-P

A

for trafficking to lysosome
problem = 1-cell disease: coarse face, clouded cornea, restricted joint movements, high plasma lysosomal enzymes, fatal in childhood

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19
Q

Peroxisome

A

VLCFS
BCFA
AA

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20
Q

Prooteasome

A

mutations in Parkinsons

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21
Q

Vimentin =

A

IF of messenchyme (CT)

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22
Q

Desmin =

A

IF of muscle

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23
Q

MT drugs:

A 
Greisofulvin
Paclitaxel
Vincristine/vinblastine
colchicine
Mebendazole
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24
Q

Ouabain

A

inhibits K+ binding site of Na/K ATPase

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25
Q

Col II =

A

cartilage, NP, vitreous body

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26
Q

Col III =

A

reticulin - BV, skin, ED

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27
Q

hydroxylatoin vs glycosylation vs. crosslinking of collagen

A 
hydroxylation = proline and lysin, with vit C
Glycosylation = hydroxylysine
crosslinking = lysin to hydroxylysin with Cu
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28
Q

FiSH

A

microdeletions

fluorescent DNA or RNA, if it light up it bound the DNA of interest, which mean it is NOT deleted

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29
Q

Known-down via

A

dsRNA, transfected, separates, binds and degrades mRNA target

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30
Q

a1-AT genetics

A

codominance

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31
Q

McCune Albright syndrome

A

Need somatic mosaicism to survive (lethal if mutation occurs before fertilization thus affecting all cells)

Unilateral cafe-au-lait, polyostoic fibrous dysplasia, precocious puberty, endocrien problems

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32
Q

Heteroplasmy

A

both normal and mutates mtDNA; variable expression of MT disease

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33
Q

Osler-Weber-Rendu

A

hereditary hemmorhagic telangectasias - bleed

AD

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34
Q

SBLA cancer syndrome

A

Li-Fraumeni
p53 mutation - AD
sarcoma, breast, lung, adrenal

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35
Q

MEN inheritance

A

AD

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36
Q

marfans inheritance and lens subluxation and heart stuff

A

AD
up and out
MEDIA - MVP, aortic dissectoin

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37
Q

NF1

A

cafe-au-lait, cutaneous neurofibromas, optic gliomas, lisch nodules, pheo

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38
Q

NF2

A

Bilateral acoustic schwannomas, meningiomas, ependymomas, juvenile cataracts

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39
Q

complete penetrance, variable expressivity

A

tuberous sclerosus - hammartomas

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40
Q

increased immunoreactive trypsinogen

A

newborn screen for CF

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41
Q

COD DMD

A

dilated cardiomyopathy

42
Q

DMD blood

A

high CK and aldolase

43
Q

Alterations of dystrophin gene

A

XR - Frameshift (del, dupl, nonsense) = DMD
XR - non-frameshift insertion = beckers
AD - CTG expansion = myotonia-1

44
Q

myotonia-1

A

myotonia/muscle wasting
frontal balding
testicular atrophy
arrythmia

45
Q

fragile x
freidreich ataxia
huntingtons
myotonia

A

fragile x - CGG - 5’UTR
freidreich ataxia - GAA - intron
huntingtons - CAG - exon
myotonia - CTG - 3’UTR

46
Q

Downs profile

A

low aFP
high bHCG
low estriol
high inhibin A

47
Q

edwards profile

A

trisomy 18

low everything

48
Q

patau profile

A

low everything with increased nuchal translicency

49
Q

Williams syndrone

A 
elfin
hypercalcemia
high verbal skills
super friendly
CV problems
intellectual disability
50
Q

vitamin rx for measles

51
Q

Chronic vitamin A toxicity

A 
dry skin
pseudotumour cerebri
alopecia
hepatotoxicity and enlargement
arthalgias
52
Q

dx B1 deficiency

A

increase transketolase activity post-B1 infusion

53
Q

B2 deficiency

A

Chelosis

Corneal vascularization

54
Q

how to make b3

A

tryptophan (decrease with hartnups or malignant carcinoid)
B2
B6 (decrease with INH)

55
Q

flushing of B3 via:

A

PROSTAGLANDINS (not histamine)

56
Q 
B Vitamin deficiencies and key finding:
B1
B2
B3
B5
B6
B7
A 
B1 - W-K or beri-beri
B2 - chelosis, corneal vasc
B3 - pellagra
B5 - adrenal insufficiency
B6 - convulsions, sideroblastic anemia
B7 - rare; seen with eating raw egg whites
57
Q

vitamin for Fe absorption

A

Vit C

turn 3+ to 2+ (so also used for initial metHb rx)

58
Q

vitamin + warfarin

A

E - enhances effects

K = target

59
Q

Fomepizole

A

inhibits alcohol DH for ethylene glycol or methanol poisoning

60
Q

FBPase - fasting state

A

fasted = glucagon = Phosphorylate FBPase-2 (active) = turn f-2,6-bisP to F-6-P = gluconeogenesis (and less glycolysis)

61
Q

Arsenic poisoning

A

Inhibits lipoic acid, so dont have the dehydrogenase complexes
s/s = vomiting, rice-water stools, GARLIC BREATH
No ATP made in glycolysis

62
Q

Kreb’s cycle

A

“citrate is krebs starting substance for making oxaloacetate”

63
Q

purely ketogenic AAs

A

Leucine

Lysine

64
Q

ETC inhibitors

A

I - rotenone
III - antimycin A
IV - CO and cyanide

65
Q

ATP synthesis inhibitors (complex V)

A

Oligomycin - INCREASES the proton gradient (as opposed to uncouplers)

66
Q

FA creating glucose

A

only odd chain FA because propionyl CoA can enter at succinyl coA, but even chain can only be acetyl coA

67
Q

PPP for which reactions:

A

reductive: glutathione in RBCs, FAS, Cholesterol synthesis

68
Q

Essential fructosuria

A

Fructokinase - benign

69
Q

Fructose intollerance

A

aldolase B - hypoglycemia, jaundice/cirrhosis, vomiting, fail to thrive

70
Q

Galactokinase deficiency (mild galactosemia)

A

galactokinase - infantile cataracts (no tracking or social smile) via galactitol

71
Q

Classic /severe galactosemia

A

galactose-1-P uridyl transferase - jaundice/cirrhosis, vomiting, fail to thrive, cataracts, intellectual disability

72
Q

amount of sorbitol dehydrogenase in cell types

A 
None = schwann, retina, kidney
Little = lens
73
Q

Essental AA: gluconeogenic, both, and ketogenic

A

Gluco: MVH

both: IFTY
keto: LK

74
Q

Treatments for hyperammonemia

A

lactulose - trap NH4+
Rifaximin - decrease colonic amminogenic bacteria
benzoate and phenylbutyrate - bind AAs causing excreton

75
Q

NAG or CPS-I deficiency

A

poor temprature and respiratory control, poor feeding, developmental delay, intellectual disability

76
Q

OTC deficiency

A

XR
MC urea cycle disorder
buildup carbamoyl phosphate, so turn it into orotic acid
s/s = orotic acid in blood and urine, low BUN (urea) .: hyperammonemia

*NO megaloblastic anemia like in orotic aciduria (cant turn orotic acid into UMP for pyrimidine de novo)

77
Q

hyperammonemia

A 
Somnolence
Slurred speech
Asterixis
Vomiting
Vision blurry
Edema (cerebral)
78
Q

Catecholamine cofactors; others

A

Catecholamines: BH4 BH4 B6 VitC SAM

Everything else = B6 except:

  • Serotonin also BH4
  • Niacin also B2
  • NO = BH4
79
Q

Homocysteinuria s/s

A 
marfanoid with hyphoscoliosis and lens subluxatin (but down and in)
thombosis
AS - stroke and MI
intellectual disability
OP
80
Q

b-glucuronidase

A

released by injured hepatocytes and bacteria when GB infected (asians)
hydrolyzed conjugated bilirubin causing unconjugated brown pigmented bilirubin stones

81
Q

Bilirubin uptake and export transporters

A 
Uptake = passive via OATP
release = active = ATP binding cassette MRP2
82
Q

reversible/non-oxidative enzymes in PPP

A

transketolase
Phosphopentose isomerase

ribulose-5-p ribose-5-P/G3P/F6P

83
Q 
B-vitamin general actions:
B1
B2
B3
B5
B6
B7
A 
B1 = dehydrogenase complexes + transketolase (with B2, B3, B5, lipoic acid)
B2 = FAD/FMN
B3 = NAD
B5 = CoA
B6 = Transaminases, DEcarboxylations, glycogen phosphorylase, PLP
B7 = Carboxylases
84
Q

Von geirkes (I)

A

glucose-6-phosphatase - liver
severe fasting hypoglycemia and hepatomegaly, high uric acid, high lactate
frequent glucose/cornstarch meals; avoid fructose and galactose

85
Q

McArdle (v)

A

Glycogen phosphorylase - muscle (myophosphorylase)
Cramps, myoglobinuria, arrhythmias
Rx = B6

86
Q

Cori/Forbes (III)

A 
Debranching enzyme (a-1,6-glucosidase)
Like Von Geirkes but mild and no lactic acidemia
87
Q

Pompe

A

lysosomal a-1,4-glucosidase (acid maltase) - lysosomes

Caridomegally, hypertrophic cardiomyopathy, ecercise intolerance

88
Q

Zellwegers

A

peroxisomal disorder
no a-ox (some branched) or VLCFA
poor CNS myelination, seizure, hypotonia, H-megaly, death in months

89
Q

Refsums

A

peroxisomal disorder
no a-ox - phytanic acid accumulates
cerebellar, peripheral neuropathy
avoid phytanic acid

90
Q

citrate shuttle:

A

gets citrate out into cytoplasm for FAS

91
Q

Carnitine shuttle

A

Brings (VLCFs) fatty-acyl-CoAs into mitochrondria for b-oxidation (FAO)

Deficiency causes toxic accumulation in cytosol –> weakness, hypotonia, hypoketotic hypoglycemia

92
Q

hypoketotic hypoglycemia

A

1’ carnitine deficiency (LCFA)

MCAcyl-CoA dehydrogenase deficiency

93
Q

urine test for ketones detects:

A

acetoacetate

94
Q

more common ketone

A

b-hydroxybutyrate

95
Q

Apo-C-II

A

activates LPLase

96
Q

Apo-A-I

A

Activates LCAT

97
Q

I - hyperchylomicronemia

A

AR
Via LPL or C-II deficiency
s/s = high TG (pancreatitis) and cholesterol (HP-megaly, eruptive/pruritic xanthomas)
NO CV risk because no increase in LDLs

98
Q

IIa - familial hypercholesterolemia

A

AD
Hetero LDL ~300
Homo LDL > 700
Young AS and MI, achiles xanthomas, corneal arcus

99
Q

IV-hypertriglyceridemia

A

AD
Hepatic overproduction of VLDL
s/s = high TG -> pancreatitis

100
Q

Where is GTP made in TCA

A

succinyl-CoA to succinate

used by PEP-CK

101
Q

Which essential AA can donate directly into urea cycle

A

Aspartate (aspartic acid; D)

LAST MINUTE! (15 decks)

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