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Step 1 > Flashcards - Biochem > Flashcards

Flashcards - Biochem

1
Q

Gq

A

Phospholipase C –> DAG (Protein kinase C) + IP3 (Ca2+)

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2
Q

Gs/Gi

A

Adenyl cyclase –> ATP to cAMP –> protein kinase A –> increased Ca/myosin light chain kinase

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3
Q

PCR DNA polymerase

A

synthesizes in 5’–>3’

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4
Q

DNA polymerase III

A

initiates replication, adds 5’–>3’, exonuclease “proofreading” activity in 3’ to 5’

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5
Q

DNA polymerase I

A

can also excise RNA primers

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6
Q

mRNA processing

A

hnRNA –> capped 5’ with 7-methylguanosine, polyadenylation of 3’ end

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7
Q

RNA polymerase I

A

makes rRNA

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8
Q

RNA polymerase II

A

makes mRNA - inhibited by death cap mushrooms

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9
Q

RNA polymerase III

A

makes tRNA

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10
Q

PI3K/Akt/mTOR pathway

A

receptor tyrosine kinase –> translocation to nucleus - inhibited by PTEN (phosphatase and tensin homolog)

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11
Q

Inositol phopholipid pathway

A

Gq protein 00> increase Ca2+

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12
Q

cAMP pathway

A

Gprotein –> adenylate cyclase

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13
Q

JAK/STAT pathway

A

JAK activates cytoplastic STAT –> translocates to nucleus

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14
Q

DNA topoisomerase

A

single or double stranded breaks to add/remove superbreaks - target of flouroquinolones

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15
Q

nucleotide excision repair deficiency

A

xeroderma pgmentosum - unable to repair pyrimidine dimers

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16
Q

mRNA start codon/AA

A

AUG - methionine (can be removed)

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17
Q

HGPRT

A

purine salvage, converts hypoxanthine to IMP, guanine to GMP –> deficiency in Lesch-Nyhan syndrome

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18
Q

Urea precursor

A

Aspartate + citrate –> argininosuccinate –> arginine –> urea

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19
Q

First area damaged by brain ischemia

A

hippocampus

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20
Q

homocystinuria treatment

A

colbalamine+folate (cystathione synthase deficiency) or pyridoxine+cysteine (decreased affinity) or methionine supplimentation (homocysteine methyltransferase deficiency)

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21
Q

MSUD treatment

A

thiamine supplementation

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22
Q

MSUD restriction

A

BCAAs (leucine, isoleucine, valine)

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23
Q

G6PD deficiency

A

inability to make NADPH - unable to maintain reduced glutathione (G6P to 6-phosphogluconate)

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24
Q

DNA break repair deficiency

A

cerebellar ataxia-telangectasia, Fanconi anemia

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25
Q

B-glucocerebrosidase

A

glucocerebroside - Gaucher - lipid-laden macrophages, hepatosplenomegaly, pancytopenia, osteoporosis

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26
Q

a-L-iduronidase

A

Dermatan/heparan - Hurler - gargoylism, corneal clouding

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27
Q

iduronate sulfatase

A

Dermatan/heparan - Hunter - aggressive, no corneal clouding

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28
Q

sphingomyelinase

A

sphingomyelin - Niemann-Pick - hepatomegaly, foam cells

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29
Q

B-hexosaminidase A

A

GM2 ganglioside - Tay Sachs - no hepatomegaly, onion skin lysosomes

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30
Q

Galactocerebrosidase

A

galactosylspringosine & galactocerebroside - Krabbe disease - peripheral neuropathy, optic atrophy, globoid cells

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31
Q

Arylsulfatase A

A

cerebroside sulfate - Metachromatic leukodystrophy - ataxia, dementia

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32
Q

inclusion cell disease

A

proteins excreted instead of sent to lysosomes - decreased N-acetylglucosamine phototransferase

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33
Q

Chediak-Higashi syndrome

A

lysosomal trafficking disorder - albinism

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34
Q

pyridoxine reactions

A

transanimation/decarboxylation of amino acids (amino to alpha-keto acid)

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35
Q

snRNP

A

small nuclear ribosomal proteins - removes introns from RNA transcripts

36
Q

alkaptonuria

A

homogentisate oxidase (homogentisate –> maleyacetoacetate/tyrosine –> fumarate) - black urine to air, pigment deposits in skin

37
Q

clathrin

A

trafficking protein - trans-Golgi –> lysosome

38
Q

COPI

A

anterograde ER –> cis Golgi trafficking protein

39
Q

COPII

A

retrograde cis-Golgi –> ER trafficking protein

40
Q

Vitamin A

A

Deficiency: dry scaly skin, night blindness, immunosuppression
Excess: N/V, vertigo, alopecia, scaly skin, hepatotoxicity, pseudotumor cerebri, teratogenic

41
Q

VItamin B1

A

Wernicke-Korsakoff

Deficiency: dry beriberi - polyneuritis, symmetric muscle wasting, wet beriberi - high output cardiac failure, edema

42
Q

Vitamin B1 (thiamine) cofactor reactions

A

pyruvate dehydrogenase, alpha ketoglutarate dehydrogenase, transketolase, branched chain keto acid dehydrogenase

43
Q

Vitamin B2 (riboflavin) cofactor

A

succinate dehydrogenase, FAD in pyruvate dehydrogenase

44
Q

Vitamin B3 (niacin) cofactor

A

from tryptophan - component in coenzyme A - NAD+/NADP+ redox reactions - defienciency = pellagra (diarrhea, dermatitis, dementia)

45
Q

Vitamin B6 (pyridoxine) cofactor

A

transanimation (AST/ALT), decarboxylation, glycogen phosphorylase reactions - synthesizes neurotransmitters - deficiency = neuropathy, sideroblastic anemia

46
Q

Vitamin B7 (biotin) cofactor

A

transfers CO2 group - pyruvate carboxylase, acetyl-coA carboxylase, propionyl CoA carboxylase

47
Q

Vitamin B9 (folate) cofactor

A

tetrahydrofloic acid –> for 1-carbon transfer/methylation

48
Q

Vitamin B12 (cobalamine) cofactor

A

one carbon metabolism - homocysteine methyltransferase

49
Q

Vitamin K cofactor

A

gamma-carboxylation of glutamic acid residues

50
Q

galactokinase deficiency

A

galactitol accumulates - infantile cataracts

51
Q

classis galactosemia

A

G-1-P uridyltransferase defect - galactitol accumulates

52
Q

Biotin

A

CO2 carrier - excessive egg whties can result in deficiency

53
Q

Vitamin E

A

protects fatty acids from oxidation - oxidative damage - blood, neurons

54
Q

Nitric Oxide amino acids

A

Arginine

55
Q

Urea amino acids

A

Arginine + Aspartate

56
Q

Heme amino acids

A

Glycine + Succinyl CoA

57
Q

Creatine amino acids

A

Glycine + Arginine + SAM

58
Q

GABA amino acids

A

Glutamate

59
Q

Glutathione amino acids

A

Glutamate

60
Q

Pyrimidines amino acids

A

Glutamate + Aspartate

61
Q

Purines amino acids

A

Glutamate + Aspartate + Glycine

62
Q

Histamine amino acids

A

Histidine

63
Q

Dopamine amino acids

A

Phenylalanine –> Tyrosine –> DOPA

64
Q

Melatonin amino acids

A

Tryptophan –> Seratonin

65
Q

Niacin amino acids

A

Tryptophan

66
Q

Thryoxine amino acids

A

Tyrosine

67
Q

Melanin amino acids

A

Tyrosine

68
Q

ornithine transcarbamoylase deficiency

A

increased orotic acid

69
Q

phosphorylation amino acids

A

serine, threonine, tyrosine and histidine residues (arginine and lysine in prokaryotes)

70
Q

alpha-galactosidase A

A

XL - fabry disease - ceramide trihexoside - neuropathy, angiokeratomas

71
Q

glucose-6-phosphatase deficiency

A

type I - von Gierke - Severe fasting hypoglycemia, increased glycogen in liver, blood lactate - frequent oral
glucose/cornstarch

72
Q

Lysosomal α-1,4-glucosidase deficiency

A

type II - Pompe disease - hypertrophic cardiomyopathy, exercise intolerance, early death

73
Q

Debranching enzyme deficiency

A

type III - Cori disease - Milder form of type I with normal blood lactate levelsl, Gluconeogenesis is intact

74
Q

Skeletal muscle glycogen phosphorylase/myophosphorylase deficiency

A

type IIV - McArdle disease - glycogen in muscle, muscle can’t break down,Ž painful muscle cramps, myoglobinuria (red urine) with exercise - Treat with vitamin B6

75
Q

Vitamin B5

A

pathothenic acid - coenzyme A factor - FFA synthesis - deficiency = dermatitis, enteritis, alopecia

76
Q

rate determiner of glycolysis

A

Phosphofructokinase-1 (PFK-1)

77
Q

rate determiner of Gluconeogenesis

A

Fructose-1,6-bisphosphatase

78
Q

rate determiner of TCA cycle

A

Isocitrate dehydrogenase

79
Q

rate determiner of Cholesterol synthesis

A

HMG-CoA reductase

80
Q

rate determiner of Urea cycle

A

Carbamoyl phosphate synthetase I

81
Q

Regulation by fructose-2,6-bisphosphate

A

Fasting state - increased FBPase-2, decreased PFK-2, increased Fructose-6-P
Fed state -Ž decreased FBPase-2,  increased PFK-2, increased Fructose-2,6-BP

82
Q

aldose reductase

A

glucose to sorbitol

83
Q

N-acetylglutamate synthase deficiency

A

Required cofactor for carbamoyl phosphate synthetase I –> hyperammonemia.

84
Q

cystinuria

A

renal PCT defect of COLA (Cysteine, Ornithine, Lysine, Arginine) –> stones, cyanide-nitroprusside test

85
Q

Systemic 1° carnitine deficiency

A

defect in transport of LCFAs into the mitochondria –> toxic accumulation, weakness, hypotonia

86
Q

Creamy layer in supernatant

A

hyperchylomicronemia

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