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501 Cards in this Set
- Front
- Back
|
FAD and FMN derive from
|
B2 riboflavin
|
|
|
NAD derives from
|
B3 niacin
|
|
|
CoA derives from
|
B5 - pantothenic acid
Cinq CoA |
|
|
thiamine is a cofactor for
|
SATE
- decarboxylation of pyruvate to Ethanol - decarboxylation of alpha ketoglutarate to Succinyl coA - branched chain AA dehydrogenase - Transketolase in the HMP shunt |
|
|
what vitamin is derived from tryptophan using vitamin B6
|
B3
B6 / Two (for tryptophan) = B3 |
|
|
its deficiency can be induced by INH or oral contraceptives
|
B6
|
|
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vitaimin needed for transamination
|
B6
|
|
|
vitaimin needed fro synthesis of niacin from tryptophan
|
B6
|
|
|
cofactor in:
transamination decarboxylations glycogen phosphorylase heme synthesis |
B6
|
|
|
cofactor in heme synthesis
|
B6
|
|
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cofactor for homocystein to methionine
|
B12
|
|
|
cofactor for methylmalonyl-CoA to Succinyl-CoA
|
B12
|
|
|
key factor in synthesis of nitrogenous bases in DNA and RNA
|
folic acid
|
|
|
deficiency of this vitamin can happen with too many raw eggs
|
biotin
|
|
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cofactor in pyruvate to oxaloacetate
|
biotin
|
|
|
cofactor in acetyl-CoA to malonyl coA
|
biotin
|
|
|
cofactor in propionyl-CoA to methylmalonyl-CoA
|
biotin
|
|
|
bitoin is cofactor in
|
carboylations of:
pyruvate to oxaloacetate acetyl CoA to malonyl CoA propionyl CoA to methylmalonyl CoA |
|
|
cofactor for 1 carbon transfer
|
folic acid (elgl, in ethylation reactions
|
|
|
necessary for hydroxylation of proline and lysine in collagen synthesis
|
vitamin C
|
|
|
keeps iron in reduced (Fe++) ore absorbably state
|
vitamin C
|
|
|
cofactor for dopamine beta hydroxylase in converting dopamine to NE
|
vitamin C
|
|
|
source of ergo vs chole calciferol
|
ergo from mil
chole from sun |
|
|
this vitamin is an antioxidant that protects RBCs from hemolysis
|
E
|
|
|
catalyzes gamma carboxylation of glutamic acid residues
|
K
|
|
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kids are injected with this vittamin at birth
|
K
|
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enzyme from ethanol to acetaldehyde
|
alcohol dehydrogenase
|
|
|
enzyme from acetaldehyde to acetate
|
acetaldehyde dehydrogenase
|
|
|
order of kinetics for alcohol dehydrogenase
|
zero
alcOhOl dehydrOgenase |
|
|
limiting reagent in the conversion fo ethanol to acetaldehyde
|
NAD, which comes from niacin which is B3
B3=3ATP |
|
|
disease with decreased tryptophan absorption
|
Hartnup
nupped up the tryptophan |
|
|
why does carcinoid cause pellagra
|
because it increases tryptophan metabolism
|
|
|
how does ethanol cause hypoglycemia and induce fatty change
|
increases NAD to NADH
this diverts pyruvate to lactate and it diverts OAA to malate this inhibits gluconeogenesis and shunts to fatty acid synthesis |
|
|
which histone is not in the nucleosome core
|
H1
|
|
|
which histones are in the core
|
2A
2B 3 4 |
|
|
which are purines
|
AG
PURe As Gold |
|
|
whiche are pyrimidines
|
CUT
CUT the PY (pie) |
|
|
which is in RNA? U or T
|
U is in RNA
URNA, |
|
|
which nucleotide bond has three h bonds
|
CG (and so raises melting temp)
|
|
|
amino acids necessary for purine synthesis
|
GAG
glucine, aspartate, glutamine |
|
|
precursor for purines
|
imP
|
|
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precursor for pyrimidines
|
orotate, with PRPP added later
|
|
|
what's made first RNA or DNA
|
RNA
|
|
|
how do you get from RNA to DNA
|
ribonucleotide reductase
|
|
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source of N-C needed to make pyrimidines
|
carbamoyl phosphate
|
|
|
source of extra carbons needed to make purines
|
N10 Formyl -tetrahydrofolate
|
|
|
transition vs transversion
|
transItion - identical
purine for purine, etc transVersion = conVersion purine for pyrimidine etc |
|
|
which aa has only 1 codon
|
AUG
|
|
|
which things have a different genetic code
|
mitochondria
archaebacteria mycoplasma yeasts |
|
|
role of single strand binding protein (SSB) in DNA replication
|
after helicase opens the template, it prevents strands from reannealing
|
|
|
precursor for purines
|
imP
|
|
|
precursor for pyrimidines
|
orotate, with PRPP added later
|
|
|
what's made first RNA or DNA
|
RNA
|
|
|
how do you get from RNA to DNA
|
ribonucleotide reductase
|
|
|
source of N-C needed to make pyrimidines
|
carbamoyl phosphate
|
|
|
source of extra carbons needed to make purines
|
N10 Formyl -tetrahydrofolate
|
|
|
transition vs transversion
|
transItion - identical
purine for purine, etc transVersion = conVersion purine for pyrimidine etc |
|
|
which aa has only 1 codon
|
AUG
|
|
|
which things have a different genetic code
|
mitochondria
archaebacteria mycoplasma yeasts |
|
|
role of single strand binding protein (SSB) in DNA replication
|
after helicase opens the template, it prevents strands from reannealing
|
|
|
drug that inhibits DNA gyrase
|
fluoroquinolones
|
|
|
what is DNA gyrase
|
prokaryotic topoisomerase
|
|
|
what nicks the helix to relieve supercoils
|
topoisomerases
|
|
|
what makes the RNA primer on which DNA polymerase III can initiate replication
|
Primase
|
|
|
DNA polymerase that elongates the chain
|
III
|
|
|
what degrades the RNA primer and fills in the gap with DNA
|
DNA polymerase I
|
|
|
what seals the newly formed dna
|
DNA ligase
|
|
|
what proofreads? in what direction
|
exonuclease
3 to 5 direction |
|
|
what does the 3-5 exonuclease do?
the 5-3 exonuclease? |
3-5 proofreads under the direction of DNA polymerase 3 ( 3 first with 3)
5-3 is used by DNA I to excise primer |
|
|
what does nucleotide excision repair
|
endonucleases
|
|
|
what does base excision repair
|
glycosylases
|
|
|
where is the triphosphate (energy source) for the upcoming bond
|
on the 5' end. and the 3' end of the nascent chain is the taret
|
|
|
is protein synthesized N to C or C to N
|
N to C. N is Nascent; C is complete
|
|
|
most abundant RNA
|
rRNA
r is Rampant |
|
|
smallest RNA
|
tRNA
t is tiny |
|
|
longest RNA
|
mRNA
mRNA's a Mile long |
|
|
start codon
|
AUG (inAUGurates)
|
|
|
AUG codes for
|
start
methionine (fMet in prokaryotes) |
|
|
stop codons
|
UGA - U Go Away
UAA - U Are Away UAG - U Are Gone |
|
|
what do RNA polymerases I, II, III do
|
I - rRNA
II - mRNA III - tRNA |
|
|
How do RNA polymerases proofread?
|
they can't
|
|
|
what plant can inhibit rNA polymerase II
|
alpha amanitin in death cap mushrooms
|
|
|
what's AAUAAA
|
poladenylation signal on the 3' end
|
|
|
disease that features splicing mutations
|
beta thalassemia
|
|
|
what's responsible for accuracy of anticodons
|
tRNA synthetase
|
|
|
difference between 80S and 70S ribosomes
|
eukaryones are 80S; prokaryotes are 70S
|
|
|
in translation, what is role of ATP and GTP
|
ATP Activates (tRNA charging)
GTP does the Gripping and Going (translocation of tRNA) |
|
|
E site on the ribosome is for
|
Exit
|
|
|
total energy expenditure in translation
|
4 high energy bonds (2 ATP, 2 GTP)
|
|
|
what do p53 and Rb usually inhibit
|
G1 to S
|
|
|
cyclin CDKs - which activates which?
|
cyclins activate CDKs
|
|
|
at what stage do permanent cells rest
|
Go (which is an extension from G1)
|
|
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which cells are "stable"
|
hepatocytes, lymphocytes
|
|
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where does N-linked oligosaccharide addition happen
|
RER
|
|
|
where in neurons are enzyes and NTs synthesized
|
Nissl bodies (~RER)
|
|
|
where are cytosolic proteins sythesized
|
free ribosomes
|
|
|
what happens in smooth ER
|
steroid synthesis
detox |
|
|
what does COPI do in the Golgi
|
retrograde trafficking (Golgi to ER)
|
|
|
what does COPII do in the Golgi
|
anterograde trafficing (RER-cisGolgi
|
|
|
what happens to asparagine in golgi
|
N-oligosaccharides modified
|
|
|
what happens to serine and threonine residues in Golgi
|
O-oligosaccharides added
|
|
|
what happens to lysosomal proteins in teh Golgi
|
addition of mannose-6-phosphate
|
|
|
what is sulfated inteh Golgi
|
sugards in proteoglycans
selected tyrosine on proteins |
|
|
what are the dimers in microtubules
|
alpha and beta tubulin
each has 2 GTP bound |
|
|
drugs that act on microtubules
|
mebendazole/thiabendaazole
paclitaxel griseofulvin vincristine colchicine |
|
|
disease that involves a microtubule polymerization defect and decreased phagocytosis
|
Chediak-Higashe
|
|
|
what's it made up of: microvilli
|
actin and myosin
|
|
|
what's it made up of: adhering unctions
|
actin and myosin
|
|
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what's it made up of: cilia
|
microtubules
|
|
|
what's it made up of: flagella
|
microtubules
|
|
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what's it made up of: mitotic spindle
|
microtubules
|
|
|
what's it made up of: neurons
|
microtubules
|
|
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what's it made up of: centrioles
|
microtubules
|
|
|
vimentin stains for
|
connective tissue
|
|
|
desmin stains for
|
muscle
|
|
|
cytokeratin stains for
|
epithelial cells
|
|
|
GFAP stians for
|
neuroglia
|
|
|
neurofilaments stain for
|
neurons
|
|
|
what substance can inhibit the NaK ATPase
|
ouabain, by binding to the K site
the binding is OK and digoxin/digitoxin from foxglove |
|
|
collagen in bone
|
I
|
|
|
collagen in skin
|
I
|
|
|
collagen in tendon
|
I
|
|
|
collagen in cartilage
|
2
carTWOlage |
|
|
collagen in basement membrane
|
four under the floor
|
|
|
type of collagen n the cornea? vitreous body?
|
cornea is I
vitreous body is II |
|
|
where is collagen first synthesized
|
alpha chains of preprocollagen made in RER
|
|
|
what is preprocollagen made of
|
proline
hydroxyproline hydroxylysine |
|
|
where is collagen hydroxylated
|
in ER
proline and lysine residues hydroxylated requires vitamin C |
|
|
key amino acids to collagen
|
proline
lysine |
|
|
where is collagen glycosylated
|
made into procollagen in the ER (now a triple helix of 3 alpha chains)
|
|
|
how does collagen get outside of cell
|
procollagen exocytosed from ER
|
|
|
how is exocytosed procollagen made into collagen fibrils
|
proteolytic processing into insoluble tropocollagen
cross-linking by lysyl oxidase |
|
|
which step of collagen synthesis is inhibited by scurvy
|
hydroxylation of proline and lysine residues
|
|
|
which step of collagen synthesis is inhibited in osteogenesis imperfecta
|
glycoslyation in teh ER
|
|
|
which step of collagen synthesis is inhibited in Ehlers-Danlos
|
processing and cross linking extracellularly
|
|
|
type of collagen affected in osteogenesis
|
I
|
|
|
type of collagen affected in Ehlers-Danlos
|
III
|
|
|
where does it happen: fatty acid oxidation
|
mitochondria
|
|
|
where does it happen: acetyl-coA production
|
mitochondria
|
|
|
where does it happen: Krebs
|
mitochondria
|
|
|
where does it happen: oxphos
|
mitochondria
|
|
|
where does it happen: glycolysis
|
cytoplasm
|
|
|
where does it happen: fatty acid synthesis
|
cytoplasm
|
|
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where does it happen: HMP shunt
|
cytoplasm
|
|
|
where does it happen: protein synthesis (RER)
|
cytoplasm
|
|
|
where does it happen: steroid synthesis
|
cytoplasm (SER)
|
|
|
where does it happen: heme synthesis
|
mitochondria and cytoplasm
HUGs take two |
|
|
where does it happen: urea cycle
|
mitochondria and cytoplasm
HUGS take two |
|
|
where does it happen: gluconeogenesis
|
mitochondria and cytoplasm
HUGs take two |
|
|
rate determining step of: de novo pyrimidine synthesis
|
aspartate transcarbamylase
|
|
|
rate determining step of: de novo purine synthesis
|
glutamin-PRPP amidotransferase
|
|
|
rate determining step of: glycolysis
|
PFK-1
|
|
|
rate determining step of: gluconeogenesis
|
pyruvate carboxylase
|
|
|
rate determining step of: TCA cycle
|
isocitrate dehydrogenase
|
|
|
rate determining step of: glycogensynthesis
|
glycogen synthase
|
|
|
rate determining step of: glycogenolysis
|
glycogen phosphorylase
|
|
|
rate determining step of: HMP shunt
|
G6PD
|
|
|
rate determining step of: fatty acid synthesis
|
acetyl-CoA carboxylase
|
|
|
rate determining step of: fatty acid oxidation
|
carnitine acyltransferase I
|
|
|
rate determining step of: ketogenesis
|
HMG-CoA synthase
|
|
|
rate determining step of: cholesterol synthesis
|
HMG-CoA reductase
|
|
|
rate determining step of: heme synthesis
|
ALA synthase
|
|
|
rate determining step of: urea cycle
|
carbamoyl phophate synthase I
|
|
|
how many ATP are produced by aerobic metabolism in heart and liver?
in skeletal muscle? |
32 in heart and liver via malate-aspartate shuttle
30 in muscle via glycerol-3-phosphate shuttle |
|
|
how many ATP produced by anaerobic glycolysis
|
2 per glucose
|
|
|
activated carriers
|
Phosphyoryl (ATP)
Electron (NADH, NADPH, FADH2) Acyl (Coenzyme A, lipoamide) CO2 (biotin) 1 caron units (tetrahydrofolates) CH3 group (SAM) aldehydes (TPP) |
|
|
ATP + methionine =
|
SAM
SAM the methyl donor man |
|
|
what is required for regeneration of methionine and SAM
|
B12 and folate
|
|
|
universal electron acceptors
|
NAD+ NADP+
FAD+ |
|
|
NADPH is produced in what?
|
HMP shunt
|
|
|
NADPH is used in
|
NADPH has a good RAP
anabolic processes respiratory burst P-450 |
|
|
enzyme knocked out in chronic granulomatous disease
|
HADPH oxidase
|
|
|
key difference between hexokinase and glucokinase
|
hexo is ubiquitous
gLuckokInase is kn the Liver and beta cells of pancreas where Insulin is made hexokinase has negative feedback from G6P; gluco has none |
|
|
what promotes/inhibits hexokinase
|
glucose 6 P (its product)
|
|
|
what promotes/inhibits glucokinase
|
nothing
|
|
|
what promotes/inhibits phosphofructokinase
|
inhibited by ATP, glucagon and Citrate
promoted by AMP, insulin and fructose 2,6 BP |
|
|
what promotes/inhibits phosphoglycerate kinase
|
nothing
|
|
|
what promotes/inhibits pyruvate kinase
|
inhibited by
ATP, alanine, glucagon promoted by fructose 1,6 BP, insulin |
|
|
what promotes/inhibits pyruvate dehydrogenase
|
inhibited by ATP, NADH, acetyl CoA
nothing promotes |
|
|
what is the most potent activator pf phosphofructokinase
|
Fuctose 2, 6 BP
|
|
|
glycolytic enzyme deficiencies are associated with
|
hemolytic anemias
RBC's need the ATP from glycolysis for their Na-K ATPase. Swelling and lysis results |
|
|
cofactors in the pyruvate dehydrogenase complex
(which is sthe same as the alpha ketoglutarate complex |
pyrophosphat (B1, thiamine; TPP)
FAD (B2, riboflavin) NAD 9B3, niacin) CoA (B5, pantothenate) Lipoic acid |
|
|
what inhibits lipoic acid
|
arsenic
|
|
|
role of pyruvate dehydrogenase
|
pyruvate + NAD + CoA
yields acetyl CoA + CO2+NADH |
|
|
what activates
NAD/NADH ratio ADP Ca++ |
exercise
|
|
|
pyruvate dehydrogenase deficiency
|
lactic acidosis
neurologic defects |
|
|
treatment for pyruvate dehydrogenase deficiency
|
ketogenic nutriets
lysine and leucine |
|
|
the only purely ketogenic amino acids
|
lysine
leucine |
|
|
what enzyme takes pyruvate to alanin
|
ALT
|
|
|
carries amino groups from muscle to liver
|
alanine
A la Liver, AmINoacids |
|
|
allows lactate generated during anaerobic metabolism to undergo hepatic gluconeogenesis and become fo a source of glucose for muscle/RBCs
|
Cori cycle
|
|
|
energy cost of Cori cycle
|
4 ATP per cycle
|
|
|
the cori cycle shifts metabolic burden to
|
the liver
|
|
|
products of TCA per glucose
|
6 NADH
2 FADH2 4 CO2 2 GTP = 24 ATP per glucose |
|
|
enzyme from oxacloacetate to citrate
|
citrate synthase
|
|
|
isocitrate dehydrogenase
|
isocitrate to alpha ketoglutarate
|
|
|
oxphos complex 1 produces
|
NAD+ from NADH
|
|
|
oxphos complex II has what enzyme associated
|
succinate dehydrogenase
succinate second |
|
|
shuttle that takes NADH from glycolysis into mitochondria
|
malat-aspartate shuttle
or glycerol-3-phosphate shuttle |
|
|
oxphos complex II produces
|
FAD from FADH2
|
|
|
oxphos complex II produces
|
nothing?
|
|
|
oxphos complex IV produces
|
H2O from 1/2 O2
IV fluids in the form of water |
|
|
oxphos complex V produces
|
ATP an dwater (it's the pump)
|
|
|
each NADH in oxphos yeilds
|
3 ATP
you start Nursery school at 3 |
|
|
each FADH2 in oxphos produces
|
2 ATP (because it's FADH2)
|
|
|
rotenone
|
electron transport inhibitor
|
|
|
CN-
|
electron transport inhibitor
|
|
|
antimycin A
|
electron transport inhibitor
|
|
|
CO
|
electron transport inhibitor
|
|
|
Oligomycin
|
ATPase inhibitor
|
|
|
what happens to proton gradient and ATP synthesis in:
electron transport inhibitors |
decreased gradient
block of ATP |
|
|
what happens to proton gradient and ATP synthesis in: ATPase inhibitors
|
increased gradient
no ATP produced |
|
|
what happens to proton gradient and ATP synthesis in: uncoupling agents
|
decreased proton gradient (due to increased permeability of membrane)
ATP synthesis stops even though electron transport continues |
|
|
2,4 dinitrophenol (2,4 DNP)
|
uncoupling agent that increases the permeability of the membrane in oxphos and halts ATP synthesis
|
|
|
aspirin's effect on oxphos
|
uncoupling agent that increases the permeability of the membrane in oxphos and halts ATP synthesis
|
|
|
thermogenin
|
in brown fat
uncoupling agent that increases the permeability of the membrane in oxphos and halts ATP synthesis |
|
|
brown fat
|
uncoupling agent that increases the permeability of the membrane in oxphos and halts ATP synthesis
|
|
|
pyruvate carboxylase
|
pyruvate to oxaloacetate
|
|
|
how do you get from pyruvate to gluconeogenesis
|
via oxaloacetate
|
|
|
ofactors for pyruvate carboxylase
|
biotin
ATP Acetyl-CoA activates |
|
|
PEP carboxykinase
|
irreversible
oxaloacetate to phosphoenolpyruvate |
|
|
cofactor for PEP carboxykinase
|
GTP
|
|
|
irreversible enzymes of gluconeogenesis
|
Pathway Produces Fresh Glucose
pyruvate carboxylase PEP carboxykinase Fructose 1,6 bisphosphatase Glucose 6 phosphatase |
|
|
Fructose 1, 6 bisphosphatase
|
furctose 1,6 bisphosphate to fructose 6 P
|
|
|
where does pyruvate carboxylase work
|
in mitochondria
|
|
|
where does glucose 6 phosphatase work
|
in ER
|
|
|
glucose 6 phosphatase
|
in ER
|
|
|
where are the gluconeogenesis enzymes found
|
places of our ILK
liver kidney intestinal epithelium NOT muscle |
|
|
what do odd-chain fatty acids yeild
|
1 propionyl ClA, which can become a flucose source via gluconeogenesis
|
|
|
what is the HADPH from the HMP shunt used for by RBCs
|
glutathione reduction
|
|
|
where does the HMP shunt get used
|
BALL
Aderenal cortex RBCs Lactating mammary glands Liver |
|
|
enzymes of the HMP shunt
|
G6PD (irreversible)
Transketolase (reversible) |
|
|
what does Transketolase require
|
Thiamine
Transketolase requires Thiamine |
|
|
which HMP shunt enzyme is oxidate? Nonoxidative?
|
G6PD is oxidative
transketolase is not |
|
|
ribose 5 phosphate can be used for
|
nucleotide synthesis
|
|
|
products of transketolase reaction in HMP
|
ribose 5 phosphate
glycolytic intermediates: - G3P - F6P |
|
|
which ethnic group gets more G6PD
|
blacks
|
|
|
rate limiting enzyme in G6PD
|
G6PD
|
|
|
heinz bodies
|
alterend Hemoglobin preciptiataes within RBC
|
|
|
Bite cells
|
phagocytic removal of Heniz bodies from macrophages
|
|
|
decreased NADPH in RBCs leads to
|
hemolytic anemia
|
|
|
inheritance of G6PD deficiency
|
x linked recessive
|
|
|
oxidizing agents in the HMP shunt
|
fava beans
sulfonamides primaquine |
|
|
enzymes involved with G6PD in reducing reactive oxygen species
|
glutathione reductase
glutathion peroxidase/catalase |
|
|
deficient enzyme in fructose intolerance
|
aldolase B
|
|
|
hypoglycemia
jaundice cirrhosis vomiting |
fructose intolerance
|
|
|
essential fructosuria deficiency
|
fructokinase
|
|
|
galactosemia deficiency
|
galactose 1 phosphate uridyltransferase absent
|
|
|
cataracts
hepatosplenomegaly mental retardation |
galactosemia
|
|
|
what's missing in lactase deficiency
|
brush border enzyme
|
|
|
what form of amino acids are found in proteins
|
L form
|
|
|
essential amino acids
|
LL-PITT- HAMV
Leu lys Ile Phe Tyr Thr Met Val Arg His |
|
|
essential glucogenic/ketogenic amino acids
|
PITT (brad PITT ESSENTIALLY gets it both ways)
Ile Phe Tyr Thr |
|
|
essential glucogenic amino acids
|
HAM-V (HAM is Very sweet)
Met Val Arg His |
|
|
ketogenic amino acids
|
1L comes after K, but 2Ls make K
Leucine Lycine |
|
|
which amino acids are present in greater quantities in histones
|
Arginine and Lysine
|
|
|
acidic amino acids
|
the ates
Asp and Glu (negatively charged) |
|
|
basic amino acids
|
HAL is a really BASIC guy
Arg (most basic) Lys His (no charge at body pH) |
|
|
amino acids that transport ammonium
|
alanine and glutamine
|
|
|
effect of ornithin transcarbamoylase deficiency
|
hyperammonemia
|
|
|
effect of excess NH4
|
deletion of alpha keetoglutarate and inhibition of TCA
|
|
|
treatment for hyperammonemia
|
benzoate
penylbutyrate (lower serum ammonia levels) |
|
|
Urea cycle intermediates
|
Ordinarily, Careless Crappers Are Also Frivolous About Urination
Ornithin Carbamoyl phosphate Citrulline Aspartate Argininosuccinate Fumarate Arginine |
|
|
carbamoyl phosphate synthetase
|
converts ammonia and carbon dioxide to carbamoyl phosphate
|
|
|
ornithine transcarbamoylase
|
converts orithine and carbamoyl phosphate to citrulline
|
|
|
rate limiting step in urea cycle
|
carbamoyl phosphate synthetase
|
|
|
tyrosine derives from
|
phenylalanine
|
|
|
melanin derives from
|
phenylalanine (via tyrosine and dopa)
|
|
|
dopamine derives from
|
phenylalanine (via tyrosine and dopa)
|
|
|
NE derives from
|
phenylalanine (via tyrosie, dopa, dopamine)
|
|
|
Epi derives from
|
phenylalanine (via tyrosien, dopa, dopamine NE)
|
|
|
Thyroxine derives from
|
Phenylalanine (via tyrosine)
|
|
|
Niacin derives from
|
tryptophan
|
|
|
serotonin derives from
|
tryptophan
|
|
|
melatonin derives from
|
tryptophan (via serotonin)
melatonin and tryptophan put you to sleep |
|
|
histamine derives from
|
histidine
histidine is the history of histamine |
|
|
porphyrin derives from
|
glycine
dophins and porphyrins glyde like glycine |
|
|
heme drives from
|
glycine (via porphyrin)
|
|
|
creatine derives from
|
arginine
|
|
|
urea derives from
|
arginine
|
|
|
NO derives from
|
arginine
|
|
|
derivatives of arginin
|
Urea
no Creatine UNC has silver (ARG) hair |
|
|
GABA derives from
|
glutamate
|
|
|
glutamate decarboxylase
|
glutamate to GABA
requires B6 |
|
|
glutathione derives from
|
glutamate
|
|
|
cofactors with phenylalanine hydroxylase
|
DHP - THB
plus that is accompanied by DHP reductase converting NADPH - NADP |
|
|
key deficiency in tyrosine degradation pathway
|
homogenistic acid oxidase deficiency
|
|
|
alkaptonuria deficiency
|
homogenistic acid oxidase
|
|
|
albinism results from ....
|
tyrosinase (AR)
defective tyrosone transporters (variable inheritance) lack of migration of neural crest cells |
|
|
what becomes essential in homocystinuria
|
cysteine
|
|
|
what becomes essential in phenylketonuria
|
tyrosine
|
|
|
disorder of aromatic amino acid metabolism
|
musty bodor odor
phenylketonuria |
|
|
defect in renal tubular amino acid transporter
|
cystinuria
|
|
|
what does the renal tubular amino acid transport that is defective in cystinuria transport?
|
COLA
cystein ornithine lysine arginine |
|
|
tx for cysteinuria
|
acetazolamide to alkalinize urine
|
|
|
relationship between cystIne and cystEIne
|
cystIne = 2 cystEInes connected by a disulfide bond
|
|
|
blocked degradation of branched amino acids due to alpha ketoacid dehydrogenase decrease
|
maple syrup urine disease
|
|
|
deplete enzyme in maple syrup urine disease
|
alpha ketoacid dehydrogenase
|
|
|
pathway that SCID is in
|
purine salvage
|
|
|
pathway that Lesch-Nyhan is in
|
purine salvage
|
|
|
defective enzyme in Lesch Nyhan
|
HGPRT
He's Got Purine Recovery Trouble |
|
|
mechanism for SCID
|
adenosine deficiency
AMP and ATP build up this feedback inibits ribonucleotide reductase this inhibits DNA synthesis |
|
|
fuels used in a 100 meter spring
|
stored ATP
creatine phosphate anaerobic glycolysis |
|
|
fuels used in a 1000 meter run
|
Stored ATP
creatine phosphate anaerobic glycolysis OXPHOS |
|
|
fules used in a marathon
|
Glycogen and FFA oxidation
glucose conserved for final springint |
|
|
liver can drive gluconeogenesis from which aa's in peripheral tissue
|
lactate and alanine
|
|
|
possible substrates for hepatic gluconeogenesis
|
Please Let's Arrive at Glucose
Propionyl-CoA from odd chain FFA metabolism Lactate and Alanine in peripheral tissue Glycerol from adipose tissue |
|
|
when do ketone bodies start being made in starvation
|
day 3
|
|
|
when do ketone bodies start becoming the main source of energy for the brain
|
after several weeks
|
|
|
organs that don't need insulin for glucose uptake
|
BRICK L
Brain RBCs Intestine Cornea Kidney Liver |
|
|
hwere is GLUT1
|
RBCs
brain |
|
|
where is GLUT 2
|
beta islet cells
liver kidney |
|
|
where is GLUT 4
|
adipose tissue
skeletal muscl |
|
|
which GLUT is bidirectional
|
2 in beta islet cells, liver, kidney
|
|
|
which GLUT is insulin responseive
|
4
|
|
|
what cells release glucagon
|
alpha cells of pancreas
|
|
|
effect of insulin on sodium
|
increased retention in kidneys
|
|
|
effect of insulin on protein synthesis
|
increases it in the muscles
|
|
|
effect of insulin on K+ uptake
|
increases
|
|
|
insulin and glucagon: which phosphorylates, which dephosphorylates
|
insulin dephosphorylates (decreased cAMP, PKA)
glucagon phosphorylates (increased cAMP, PKA) |
|
|
what kind of bonds do glycogen branches have
|
alpha 1,6
|
|
|
what kind of bonds do glycogen linkages have
|
alpha 1,4
|
|
|
glycogen storage diseases
|
Very Poor Carbohydrate Metaboism
Von Gierke's Pompe's Cori's McArdles |
|
|
deficient enzyme in Von Gierke
|
G6Phosphatase
|
|
|
deficient enzyme in Pompe's
|
lysosomal alpha 1,4 glucosidease
= acid maltase |
|
|
damage done in Pompe's
|
Pompe's trashes the Pump
(heart, liver, muscle) |
|
|
what happens to gluconeogenesis in Cori's
|
it's intact
|
|
|
deficient enzyme in Coris
|
debranching enzyme
alpa 1, 6 glucosidease |
|
|
deficient enzyme in McArldes
|
skeletal muscle glycogen phosphorylase
|
|
|
deficiency in Fabry's
|
alpha galactosidase A
|
|
|
deficiency in Gauchers
|
beta glucocerebrosidase
|
|
|
deficiency in Niemann Pic
|
sphingomyelinase
|
|
|
deficiency in tay Sachs
|
hexosaminodase A
|
|
|
deficiency in Krabbe
|
galactocerebrosidase
|
|
|
deficiency in Metachromatic leukodystrophy
|
arylsulfatase A
|
|
|
deficiency in hurler's
|
alpha L iduronidase
|
|
|
deficiency in Hunters
|
idronate sulfatase
|
|
|
accumulated substrate in Fabrys
|
ceramide trihexoside
|
|
|
accumulated substrate in Gauchers
|
Glucocerebroside
|
|
|
accumulated substrate in Niemann Pick
|
sphingomyelin
|
|
|
accumulated substrate in Tay Sachs
|
GM2 ganglioside
|
|
|
accumulated substrate in Krabbes
|
Galactocerebroside
|
|
|
accumulated substrate in Metachromatic leukodystrophy
|
Cerebroside sulfate
|
|
|
accumulated substrate in Hurlers
|
heparan sulfate
dermatan sulfate |
|
|
accumulated substrate in Hunter's
|
Heparan sulfate
dermatan sulfate |
|
|
lysosomal storage diseases that have something other than AR inheriance
|
Fabrys and Hunters are XR
|
|
|
lysosomal diseases more common in Ashkenazim
|
Tay Sachs
Niemann-Pick some forms of Gaucher's |
|
|
Citrate shuttle is for
|
fatty acid synthesis
SYtrate = SYnthesis |
|
|
Carnitine shuttle is for
|
fatty acid degradation
CARnitine = CARnage of fatty acids |
|
|
what does citrate shuttle transport
|
acetyl coA to me made into malonyl CoA and then fatty acids
|
|
|
what does carnitine shuttle transport
|
acyl-CoA for beta oxidation into Ketone bodies and TCA cycle
|
|
|
what inhibits the carnitine shuttle
|
malonyl CoA
|
|
|
where does fatty acid degradation happen
|
in mitochondria, whwere its products will be consumed
|
|
|
increased dicarboxylic acids
decreased glucose and ketones |
Acyl-CoA dehydrogenase deficiency
|
|
|
role of hormone sensitivie lipase
|
tored TGAs in adipose tissue to free fatty acids and glycerol
|
|
|
what transports FFAs from adipose to cytosol
|
albumin
|
|
|
what is role of fatty acyl CoA synthetase
|
FFAs to Fatty acyl CoA in sytosol
|
|
|
what is rat limiting step in fatty acid oxidation
|
carnitine acyltransferase conversion of carnitine and fatty acyl CoA to fatty acyl carnitine
|
|
|
what inhibits hormone sensitive lipase
|
insulin
|
|
|
what promotes hormone sensitive lipase
|
epinephrine
GH |
|
|
how many ATP is one Acetyl CoA worth?
|
12
|
|
|
ATP yield of one Acyl CoA's worth of TG stored in adipose tissue
|
17 ATP
|
|
|
what are fatty acids and amino acids metabolized to in the liver
|
acetoacetate
beta-hydroxybytyrate |
|
|
what happens to oxaloacetate in prolonged starvationa dn diabetic ketoacidosis
|
depleted for gluconeogenesis
|
|
|
what happens to oxaloacetate in alcoholism
|
excess NADH shunts it to malate
|
|
|
When alcoholism, starvation and diabetic ketoacidosis stall the TCA cycle, what happens
|
glucose and FFA are shunted to ketone bodies,which are excreted in the urine
|
|
|
what are ketone bodies made from
|
HMG-CoA
|
|
|
what does ketone body metabolism yield in the brain
|
2 molecules of acetyl-CoA
|
|
|
rate limitng step in cholesterol synthesis
|
HMG-CoA reductase
HMB-CoA to mevalonate |
|
|
LCAT
|
lecithin-cholesterol acyltransferase
esterifies 2/3 of plasma cholesterol |
|
|
essential fatty acids
|
linoleic and linolenic acids
(and arachidonic acid, if lineoleic acid is absent) (necessary for eicosanoids) |
|
|
what degrades dietary TG in small intestine
|
pancreatic lipase
|
|
|
what degradets TG circulating in chylomicrons and VLDLs
|
lipoprotien lipase
|
|
|
degrades TG remaining in IDL
|
hepatic TG lipase (HL)
|
|
|
degrades TG stored in adipocytes
|
hormone sensitive lipase
|
|
|
catalyzes esterification of cholesterol
|
LCAT
Lecithin cholesterol acyltransferase |
|
|
mediates transfer of cholesterol esters to other lipoprotien particles
|
cholesterol ester transfer protein
CETP |
|
|
apolipoprotein that activates LCAT
|
A-I
Activates |
|
|
apolipoprotein that binds to LDL receptor and mediates VLDL secretion
|
B-100
Binds |
|
|
apolipoprotein that is the cofactor for lipoprotein lipase
|
C-II
Cofactor |
|
|
apolipoprotein that mediates chylomicron secretion
|
B-48
|
|
|
apolipoprotein that mediates extra remnant uptake
|
E
Extra remnants |
|
|
what can niacin inhibit in lipoprotein metabolism
|
FFA breakdown and transport from Liver to intestine
|
|
|
lipoprotein involved in dysbetalipoproteinemia
|
E
|
|
|
what's deficient in hypertryglyceridemia
|
C and LPL
|
|
|
what's deficient in familial hypercholesterolemia
|
B100
|
|
|
what's deficient in Tangier disease
|
ABCA transporter of cholesterol esters to HDL
(and so they end up making foam cells instead) |
|
|
what's deficient in familial hypercholesterolemia
|
LDL receptor
|
|
|
which lipoprotein disorders are AD
|
Familial Hypercholesterolemia (B100)
Familail Hypertryglyceridemia (C, LPL) Familial Hypertryglyceridemia IV (LCAT) Familial Combined Hyperlipidemia IIb |
|
|
what does LCAT do
|
HDL to IDL
|
|
|
Familial Hyper TGL IV has deficiency in
|
LCAT
(vs C and LPL for I and V |
|
|
lipoprotein disorder that causes
increased secrtion of B100 VLDL IDL LDL |
Familial combined Hyperlipidemia IIB (AD)
|
|
|
which lipoproteins carry most cholesterol
|
LDL HDL
|
|
|
what secretes chylomicrons
|
intestine
|
|
|
what's the difference between chylomicron and chylomicron remnant
|
remnant has been depleted of triacylglycerols
|
|
|
what delivers hepatic triclycerides to peripheral tissues
|
VLDL
|
|
|
apoproteins associated with chylomicron
|
E
C B-48 E |
|
|
apoproteins associated with VLDL
|
B100
C E |
|
|
excess VLDL causes
|
pancreatitis
|
|
|
formed in degradation of VLDL
|
IDL
|
|
|
apoproteins associated with IDL
|
B100
E |
|
|
lipoprotein that delivers hepatic cholesterolt o peripheral tissues
|
B100
|
|
|
how is LDL formed
|
lipoprotien lipase modification of VLDL
|
|
|
excess causes atherosclerosis, xanthomas and arcus cornea
vs excess causes pancreatitis, lipemia retinalis and eruptive xanthomas |
LDL
vs chylomicrons |
|
|
mediates transport of cholesterol from periphery to liver (via IDL)
|
HDL
|
|
|
enzyme affected by lead poisoning
|
ferrochelatase
ALA dehydratase |
|
|
enzyme affected by acute intermittent porphyria
|
uroporphyrinogen I synthetase
=HMB synthase |
|
|
enzyme affected by porphyria cutanea tarda
|
uroporphyrinogen decarboxylase
|
|
|
substrates that accumulate in acute intermittent porphyria
|
porphobilinogen
delta-ALA |
|
|
substrates that accumulate in porphyria cutanea tarda
|
uroporphyrin (tea colored)
|
|
|
how is bilirubin transported
|
by albumin
|
|
|
what gives bruises their blue green color
|
biliverdin
|
|
|
what's the effect os exposign jaundiced newborns to UV light
|
converts bilirubin to urine-soluble products
|
|
|
which has higher affinity for 2,3 BPG
|
adult hemoglobin
|
|
|
higher affinity for 2,3 BPG means what in terms of oxygen affinity
|
lower affinity for O2 (and vice versa)
|
|
|
which has higher affinity for O2: Taut or relaxed form
|
Relaxed
|
|
|
right shift of oxygen dissociation curve means
|
increased oxygen unloading
|
|
|
left shift of oxygen dissociation curve means
|
increased oxygen carrying
|
|
|
effect on oxygen dissociation curve of increased Cl
|
right shift
|
|
|
effect on oxygen dissociation curve of increased acid
|
right shift
|
|
|
effect on oxygen dissociation curve of increased CO2
|
right shift
|
|
|
effect on oxygen dissociation curve of increased 2,3 BPG
|
right shift
|
|
|
effect on oxygen dissociation curve of increased temperature
|
right shift
|
|
|
does Co2 bind to globin chain or heme
|
only binds globin chain (at N terminus)
|
|
|
which form of hemoglobin does CO2 favor
|
Taut
|
|
|
what is methemoglobin
|
oxidized form (ferric, Fe+++)
does not bind O2 as readily increased affinity for CN- |
|
|
how to treat methemoglobinemia
|
METHylene blue
|
|
|
how to treat cyanide posoning
|
nitrites to oxidze hemoglobin to methemoglobin (which binds cyaninde)
then use thicyanate to bind the cyanide and it's renally excreted |
|
|
what is carboxyhemoglobin
|
form of hemoglobin bound to CO in place of O2
|
|
|
what type of blot is for what
|
SNoW DRoP
Southern = DNA Northern = RNA Western = Protein Soutwestern = Protein and DNA |
|
|
sensitivity and specificity of ELISA
|
approach 100%
|
|
|
what is FISH looking for
|
specific gene site of interest
|
|
|
which have "loss of heterozygosity", tumor suppressors or oncogenes
|
tumor suppressors (i.e., you have to lose both)
|
|
|
locus heterogeneity means
|
mutations at different loci can produce the same phenotype (e.g., albinism)
|
|
|
is the imprinted gene the active or inactive one
|
inactivated by methylation
|
|
|
what inactivates an imprinted gene
|
methylation
|
|
|
prader willi involves
|
deletion of normally active paternal allele (maternal was inactive)
|
|
|
angelman's involves
|
deletion of normally active maternal allil
|
|
|
how often is adult polycystic kidney disease unilateral
|
never
|
|
|
APKD1
|
adult polycystic kidney disease
|
|
|
inheritance pattern of adult polycystic kidney disease
|
AD
|
|
|
inheritance pattern of neurofibromatosis type 1 (von Recklinghausen)
|
AD
|
|
|
inheritance pattern of Neurofibromatosis 2
|
AD
|
|
|
inheritance pattern of tuberous sclerosis
|
AD
|
|
|
inheritance pattern of von hippel-lindau
|
AD
|
|
|
inheritance pattern of Huntington's disease
|
AD
|
|
|
inheritance pattern of familial adenomatous polyposis
|
AD
|
|
|
inheritance pattern of hereditary spherocytosis
|
ad
|
|
|
inheritance pattern of achondroplasi
|
AD
|
|
|
subluxation of lenses
|
Marfans
|
|
|
chromosome for von Recklinghausen
|
17 (and there are 17 letters in von Recklinghausen)
|
|
|
chromosome for APKD1
|
16
cystic cysteen |
|
|
chromosome for NF2
|
22
type 2 is 22 and it affects things (ears, eyes) that come in 2s |
|
|
chromosome for von Hippel-Lindau
|
3
3 words in the name |
|
|
chromosome for Hungintons'
|
4
Hunting 4 food |
|
|
incomplete penetrance
variable presentation |
tuberous sclerosis
|
|
|
VHL is what kind of gene?
|
tumor suppressor
|
|
|
chromosome for familial adenomatous polyposis
|
5
5 letters in polyp |
|
|
cure for hereditary spherocytosis
|
splenectomy
|
|
|
FGF receptor 3 defect
|
achondroplasia
|
|
|
advanced paternal age
|
achondroplasia
|
|
|
inheritance pattern of CF
|
ar
|
|
|
inheritance pattern of albinism
|
ar
|
|
|
inheritance pattern of alpha 1 antitrypsin
|
AR
|
|
|
inheritance pattern of phenylketonuria
|
AR
|
|
|
inheritance pattern of thalassemias
|
AR
|
|
|
inheritance pattern of sickle cell anemias
|
AR
|
|
|
inheritance pattern of glycogen storage disease
|
AR
|
|
|
inheritance pattern of mucopolysaccharidoses (except Hunter's)
|
AR
|
|
|
sphigolipodoses except Fabry's
|
AR
|
|
|
inheritance pattern of infant poycystic kidney disease
|
AR
|
|
|
inheritance pattern of hemochromatosis
|
AR
|
|
|
chromosome for CF
|
7
my friend down the street was 7 |
|
|
what does CFTR channel do in lungs, GI, sweat gland
|
secretes in lungs and GI
reabsorbs from sweat |
|
|
what do you give to loosen mucous plugs of CF
|
N-acetylcystein
|
|
|
body part missing in CF paitents
|
vas deferens in males
|
|
|
inheritance pattern of Bruton's agammaglobulinemia
|
XR
|
|
|
Wiskott-Aldrich inheritance
|
XR
|
|
|
Fragile X
|
XR
|
|
|
G6PD deficiency
|
XR
|
|
|
inheritance pattern of ocular albinism
|
XR
|
|
|
inheritance pattern of Lesch-Nyhan
|
xr
|
|
|
inheritance pattern of Duchenne's MD
|
xr
|
|
|
inheritance pattern of Hemophilia
|
XR
|
|
|
inheritance pattern of Fabry's
|
XR
|
|
|
inheritance pattern of Hunter's
|
XR
|
|
|
trick for remembering xlinked recessives
|
Be Wise, Fool's GOLD Heeds False Hope
Brutons Wiskott-Aldrich Fragile X G6PD Ocular albinism Lesch Nyhan Duchenne's Hemophilia Fabry's Hunters |
|
|
what kind of mutation in duchenne's
|
frame shift
|
|
|
diagnosed by increased CPK
|
muscular dystrophy
|
|
|
FMR1 gene
|
fragile X
|
|
|
CGG repeat
|
Fragile X
|
|
|
Trinucleotide repeat expansion diseases
|
TRI HUNTING for MY FRIED eggs(X)
Huntingtons Myotonic dystrophy Friedreiche's ataxis Fragile X |
|
|
which increase in incidence with maternal age:
Downs Edwards Patau |
all
|
|
|
3 possible causes of downs
|
meiotic nondisjunction (95%)
robertsonian translocaiton nonmateral mosaicism |
|
|
are the follwoing increased or decreased in Downs: AFP, BhCG, nuchal translucency
|
AFP up
BhCG down translucency up |
|
|
gap between first 2 toes
|
Downs
|
|
|
clenched hands
|
Edwards
|
|
|
which can proceed through meiosis: pericentric or paracentric inversiosn
|
pericentric
|
|
|
chromosome for cri du chat
|
5 (deleted short arm)
|
|
|
deleted short arm of chromosome 5
|
cri du chat
|
|
|
22 q 11 microdeletion
|
either (becuase of variable presentation)
DiGeorge Velocardial facial syndrome |
