Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Foundations 1 > Biochemistry Clinical Correlates > Flashcards

Biochemistry Clinical Correlates Flashcards

(65 cards)

Start Studying
1
Q

missense mutation

A

1 amino acid for another

G12V

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

RAS missense mutation

A

binds GDP-GTP
oncogene, GOF
stay on, reduce GTP hydrolysis.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

CDKN

A

loss of function, tumor suppressor. brake on the cell cycle.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

MYC

A

oncogene
transcription factor.
induces synthesis of G1/S cyclin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

E2F

A

d

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Frameshit

A

good chance it is loss of function

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

-ib

A

tyrosine kinase inhabitor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Na/K+ ATPase

A

binding at low, releasing at high–Km has increased, right shift. weaker binding.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Bilirubin

A 
heme oxidase
biliverdin--bilirubin
extremely hydrophobic, need to be to liver. conjugated double bonds.
3mg/dL (jaundice)
hemolytic anemia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Direct bilirubin

A

glucoronic acid–down up down up
Gilbert’s syndrome, reduction of elimination
bile-duct obstruction—direct bilirubin increased–conjugated

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

indirect bilirubin

A

bound to albumin to protect it from the vandinburg reaction. reactive oxidative species

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

hemolytic anemia and gilbert’s

A

preferential increase in indirect
increase of initial, more on it’s way to liver
hemolytic–increase of total bilirubin. chronic disease… no bilirubin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

bile duct

A

preferential increase in direct

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Wnt

A

promote stem cell, can go to self renewal or self differentiate
you need to stimulate both in order to have no depletion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

sideroblastic anemia

A

lack of protoporphyrin 9
delta ala via delta ala synthase
vitamin supplements—> Km effect
deposits as hemosiderin
you want to increase Km
overcome right shift, increase concentration by adding pyridoxine
Vmax effect if you cant overcome it by changing.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

delta ALA synthase and porphyria

A

increase, kill patient. build up of ALA-neurotoxin
inhibit by adding Hemetin
too much hemetin, creater sideroblastic anemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

uroporphyrinogen decarboxylase

A

PCT, iron inhibits this, alcohol–increase iron

skin manefistations, complex ring structure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Pernicious anemia

A

B12
macrocytic anemia, growing but not dividing.
need folic acids for division. N5,N10–pyrimidine
2 carbons of purine ring–formyl tetrahydrofolate
deficiency in 1 carbon metabolism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

pyrimidines

A

oorotic acid
uridine not cytosine because uridine can make cytosine
cytosine cannot make uridine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

disrupt folding

A

proline in helical–heinze body, hemolysis, indirect bilirubin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

iron defiency anemia

A

low iron, impact heme synthesis, hypochromic

LOW FERRITIN

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

anemia of chronic disease

A 
sequestration of iron in tissues. out of circulation--
macrophages, elevated hepcidin
low iron in circulation
high iron in tissues
restriction of red blood cell production
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

hepcidin

A

master regulator of iron metabolize, destroys ferriportin

macrophages, prevents iron to be

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

anemia of chronic disease vs iron

A

ferritin levels high in ACD… normal or elevated

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
No hepcidin
hemachromatosis. cannot shut down ferriportin. blood into body. tissue stores iron in liver, heart, pituitary, pancreas.
26
pancreatic dysfunction in hemachromotis
H1AC-- Hg that binds glucose.
27
HbS in R-state
T-state preferential for HbS.
28
cytosine methylation
shut off gene expression. more methylation of gamma after birth.
29
acetylation and deacetylation
Lysine---remove the charge--acetylation. loosen DNA, more susceptible to trans-acting factor Histones--positive charge
30
trans acting factor | cis acting element
diffusable. bind to an element that it recognizes on any chromosome
31
enhancer
cis-acting sequence, | repression--histone deacetlyation
32
Notch
Sox6 Pax6-be a certain type it is a nuclear juxtracrine, binds to ligand on another cell type, confrimation change. cleavage site, release of Notch, it goes to the nucleus, now it is a transcription factor
33
Wnt and Hedgehog
expose latent t-factor don't need cell cell Wnt--APC. APC keeps beta catenin (proto) ---if no problem in APC, then you have activating problem in beta catenin--continually signal
34
base excision repair
looks at types of DNA damage that occur naturally. you can't really stop them. Cytosines to Uracils. survalience mechanism, cleave N-glycosidic bond to release the base. recognition of A-basic site, upstream nick, damaged area is removed. flips up. huntington. if they are CAG repeats. ligate failure is 8-oxoguanine, glycosidase cleaves off base, same machinery
35
nucleotide excision repair
different types of damage sunlight and bulky adducts, sensitive to sunlight
36
mismatch repair pathway
errors during replication. assume risk. Immunulogomodularity therapy. lots of polymorphisms in tumors new tumor specific therapy t-cells can attack tumors with new antigens and destroy.
37
hemestasis
PT--extrinsic pathway PTT--intrinsic common pathway--both--Factor 10 down. Factor 8 and 9--hemophelia--intrinsic pathway.. willeffect PTT, not PT extrinsic is tissue factor, exposed with tissue damage. factor 7-->factor 10--->thrombin-->thrombin burst.
38
modification of platelets and anionic surfaces
gamma carboxylation. warfarin. vitamin K analog.... prevents vitamin K from being recycled from oxidized to reduced state. warfarin targets VKOR. mutation of VKOR, increased the Ki for warfarin, and gave a standard dose---still at risk at clotting. metabolism---CYP29C--impacts the concentration of warfarin that's achieved in the body. increased activity of CYP29C, down. increased metabolism, concentration will go down.
39
VKOR
Ki/Km effect | CYP29C is about concentration of drug.
40
VW Disease
mild, and platelets in primary hemostatsis, excess factor 8, dropping factor 8 low enough you will effect PTT. but usually just bleeding time. decrease in transferring saturation--iron deficiency anemia
41
growth factor receptor
on cell surface, key regulators, appropriate to proliferate. tyrosine kinsane. bing ligand outside of cell, transmit inside of the cell. recruits to cytoplasm. recruits Ras
42
Hemachromatosis
HFE gene | Vitamin C promotes iron uptake, ferric iron to ferrous iron
43
vCJD
PrPC--inherited. favors PrPSC | M/M polymorphism-- allow bovine PrPC prions to serve as template for the aggregation of the man's Protein
44
hydroxyurea
stimulate gamma chain synthesis suppressing inflammation source of NO
45
mutations that destabilize t-state
increase infinity for Hg for oxygen alpha beta interface substitution for residues that form BPG binding sight
46
decrease Kd
increase binding strength MbO2 favored | left shit
47
reduce affinity
increase Kd Try, HbM, destabilze R state
48
warfarin
interferes with vitamin K recycling and the formation of Gla shuts off gamma carboxy glutamic acid vit k analog
49
tPa
plasminogin to plasmin
50
hemophelia
factor VIII deficiency. | b- factor IX
51
XIII
transamidase activity and crosslinks fibrin monoers through isopeptide bonds between lysine chains and glutamine. softclot to stable hard clot.
52
PTT
VIII, IX, XI, XII, thrombin, fibrinogen
53
thrombin/thrombomodulin complex
protein Ca/Protein S in an activation loop | inactivate inhibitors of tPA
54
increase Ki
right shift, less effective inhibition. increase concentration warfarin
55
decrease Ki
left shit, effective inhibition, less concentration warfarin needed
56
Vitamin K
antidote to warfarin, decrease the INR relative to the same person on warfarin. deficient in vitamin K inhibits the clotting process (like warfarin)
57
variations in CYP2C9
changes metabolism of warfarin if you have a variation that leaves a higher concentration of warfarin in her blood, you would need an VKOR1 mutation that makes her less responsive to the drug
58
what tumor suppressor is activated by G1-Cdk
Rb. Myc expresses G1 cyclin. G1-Cdk kinase. Kinase phosphorylates Rb (usually represses E2F). Active E2F induce G1/S phase cyclines. progression through START
59
thymidylate synthase
cells with a lot of thymidine, tetrahydrofolate oxidized to dihydrofolate.
60
ADA deficiency
SCIDS, dAMP, dATP, shut off ribonucleotide reductase
61
Gout
hyperactive pRpp, glucose 6 phosphate, HGPRT, | low pH, low temp
62
Allopurinol
xanthine oxidase, decrease uric acid
63
Lesch Nahn
HGPRT
64
orotic aciduria
UMP synthase | macrocytic anemia
65
Imatinib
BrcAbl

Foundations 1 (3 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions