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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
B-glucocerebrosidase
glucocerebroside - Gaucher - lipid-laden macrophages, hepatosplenomegaly, pancytopenia, osteoporosis
26
a-L-iduronidase
Dermatan/heparan - Hurler - gargoylism, corneal clouding
27
iduronate sulfatase
Dermatan/heparan - Hunter - aggressive, no corneal clouding
28
sphingomyelinase
sphingomyelin - Niemann-Pick - hepatomegaly, foam cells
29
B-hexosaminidase A
GM2 ganglioside - Tay Sachs - no hepatomegaly, onion skin lysosomes
30
Galactocerebrosidase
galactosylspringosine & galactocerebroside - Krabbe disease - peripheral neuropathy, optic atrophy, globoid cells
31
Arylsulfatase A
cerebroside sulfate - Metachromatic leukodystrophy - ataxia, dementia
32
inclusion cell disease
proteins excreted instead of sent to lysosomes - decreased N-acetylglucosamine phototransferase
33
Chediak-Higashi syndrome
lysosomal trafficking disorder - albinism
34
pyridoxine reactions
transanimation/decarboxylation of amino acids (amino to alpha-keto acid)
35
snRNP
small nuclear ribosomal proteins - removes introns from RNA transcripts
36
alkaptonuria
homogentisate oxidase (homogentisate --> maleyacetoacetate/tyrosine --> fumarate) - black urine to air, pigment deposits in skin
37
clathrin
trafficking protein - trans-Golgi --> lysosome
38
COPI
anterograde ER --> cis Golgi trafficking protein
39
COPII
retrograde cis-Golgi --> ER trafficking protein
40
Vitamin A
Deficiency: dry scaly skin, night blindness, immunosuppression Excess: N/V, vertigo, alopecia, scaly skin, hepatotoxicity, pseudotumor cerebri, teratogenic
41
VItamin B1
Wernicke-Korsakoff | Deficiency: dry beriberi - polyneuritis, symmetric muscle wasting, wet beriberi - high output cardiac failure, edema
42
Vitamin B1 (thiamine) cofactor reactions
pyruvate dehydrogenase, alpha ketoglutarate dehydrogenase, transketolase, branched chain keto acid dehydrogenase
43
Vitamin B2 (riboflavin) cofactor
succinate dehydrogenase, FAD in pyruvate dehydrogenase
44
Vitamin B3 (niacin) cofactor
from tryptophan - component in coenzyme A - NAD+/NADP+ redox reactions - defienciency = pellagra (diarrhea, dermatitis, dementia)
45
Vitamin B6 (pyridoxine) cofactor
transanimation (AST/ALT), decarboxylation, glycogen phosphorylase reactions - synthesizes neurotransmitters - deficiency = neuropathy, sideroblastic anemia
46
Vitamin B7 (biotin) cofactor
transfers CO2 group - pyruvate carboxylase, acetyl-coA carboxylase, propionyl CoA carboxylase
47
Vitamin B9 (folate) cofactor
tetrahydrofloic acid --> for 1-carbon transfer/methylation
48
Vitamin B12 (cobalamine) cofactor
one carbon metabolism - homocysteine methyltransferase
49
Vitamin K cofactor
gamma-carboxylation of glutamic acid residues
50
galactokinase deficiency
galactitol accumulates - infantile cataracts
51
classis galactosemia
G-1-P uridyltransferase defect - galactitol accumulates
52
Biotin
CO2 carrier - excessive egg whties can result in deficiency
53
Vitamin E
protects fatty acids from oxidation - oxidative damage - blood, neurons
54
Nitric Oxide amino acids
Arginine
55
Urea amino acids
Arginine + Aspartate
56
Heme amino acids
Glycine + Succinyl CoA
57
Creatine amino acids
Glycine + Arginine + SAM
58
GABA amino acids
Glutamate
59
Glutathione amino acids
Glutamate
60
Pyrimidines amino acids
Glutamate + Aspartate
61
Purines amino acids
Glutamate + Aspartate + Glycine
62
Histamine amino acids
Histidine
63
Dopamine amino acids
Phenylalanine --> Tyrosine --> DOPA
64
Melatonin amino acids
Tryptophan --> Seratonin
65
Niacin amino acids
Tryptophan
66
Thryoxine amino acids
Tyrosine
67
Melanin amino acids
Tyrosine
68
ornithine transcarbamoylase deficiency
increased orotic acid
69
phosphorylation amino acids
serine, threonine, tyrosine and histidine residues (arginine and lysine in prokaryotes)
70
alpha-galactosidase A
XL - fabry disease - ceramide trihexoside - neuropathy, angiokeratomas
71
glucose-6-phosphatase deficiency
type I - von Gierke - Severe fasting hypoglycemia, increased glycogen in liver, blood lactate - frequent oral glucose/cornstarch
72
Lysosomal α-1,4-glucosidase deficiency
type II - Pompe disease - hypertrophic cardiomyopathy, exercise intolerance, early death
73
Debranching enzyme deficiency
type III - Cori disease - Milder form of type I with normal blood lactate levelsl, Gluconeogenesis is intact
74
Skeletal muscle glycogen phosphorylase/myophosphorylase deficiency
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
Vitamin B5
pathothenic acid - coenzyme A factor - FFA synthesis - deficiency = dermatitis, enteritis, alopecia
76
rate determiner of glycolysis
Phosphofructokinase-1 (PFK-1)
77
rate determiner of Gluconeogenesis
Fructose-1,6-bisphosphatase
78
rate determiner of TCA cycle
Isocitrate dehydrogenase
79
rate determiner of Cholesterol synthesis
HMG-CoA reductase
80
rate determiner of Urea cycle
Carbamoyl phosphate synthetase I
81
Regulation by fructose-2,6-bisphosphate
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
aldose reductase
glucose to sorbitol
83
N-acetylglutamate synthase deficiency
Required cofactor for carbamoyl phosphate synthetase I --> hyperammonemia.
84
cystinuria
renal PCT defect of COLA (Cysteine, Ornithine, Lysine, Arginine) --> stones, cyanide-nitroprusside test
85
Systemic 1° carnitine deficiency
defect in transport of LCFAs into the mitochondria --> toxic accumulation, weakness, hypotonia
86
Creamy layer in supernatant
hyperchylomicronemia

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