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More Free USMLE , MCCEE ,MCQe and AMQ Flashcards

what is the rate limiting reaction in

cholesterol synthesis?

HMG Co reductase

name this condition

mousy odor, tyrosine missing,
hence it must be supplied in the
diet, can diagnose by
amniocentesis and finding the
abnormal gene; eliminate
phenylalanine from diet

PKU
**no nutrasweet!!!

what is I cell disease?

inability to phsophorylate the

mannose residues of potential
lysosomal enzymes located in
Golgi apparatus, hence they
cannot be taken up by the
lysosomes to degrade complex
substrates

explain the number of glucoses

necessary to build palmitic acid a
16 carbon compound

4 glucoses, each glucose

produces 2 acetyl CoA the latter
containing 2 carbons each

what is the result of a lack of

insulin in DKA?

decreased glycolysis,
glycogenesis, fatty acid synthesis,
storage of fat in adipose

alcohol and salicylates

name some uncoupling agents and produces brown fat from increased
explain what they do
heat from reactions trying to
increase the generation of more
protons to make ATP
decreased glucose 6-phosphatase
(gluconeogenic enzyme) with
decrease in glucsose (fasting
hypoglycemia) and increase in
glucose 6-phosphate with
what is Von Gierke's disease?
production of normal glycogen in
the liver and kidneys; stimulation
tests with glucagon, fructose, etc.
cannot increase the glucose levels
owing to the missing enzyme
explain the biochemical processes
in both cytosol and mitochondria

urea cycle, heme synthesis,

gluconeogenesis

what dietary alteration would you

suggest for a female that has
pheochromocytoma?

decreased phenylalanine
(essential AA) and tyrosine (not an
essential AA) in the diet

how would you counsel a patient

with PKU who was pregnant?

low in phenylalanine and high in

tyrosine-->avoid nutrasweet since
it contains aspartate and
phenylalanine

what is Lesch Nyhan?

SXR with absent HGPRT, self

mutilation, hyperuricemia, mental
retardation

where is glucokinase located?

only in the liver

High Vm and high Km, not
inhibited by glucose 6-phosphate
hexokinase, in all tissues inhibited
by glucose 6-phosphate; low Vm
and low Km

what tissue can metabolize

branched chain amino acids in
maple syrup urine disease?

only muscle

know glycogenolysis!

.....

fructose 1, 6 bisphosphatase
what is the key enzyme in
gluconeogenesis?

catalyzes the conversion of

fructose 1,6-bisphosphate to
fructose 6-phosphatase

what the locations of glucose 6phosphatase?

liver, kidney, intestinal epithelium

(lesser extent than others) absent
in von Gierke's disease!

what does the carnitine shuttle

carry?

even chained fatty acids

what does the malate shuttle

carry?

NADH

what are the functions of LDL?

vitamin D synthesis, other steroid,

cell membranes, synthesis of bile
salts/acids

FA syntheisis
CH synthesis
Uses of acetyl CoA?
ketone body synthesis
***not a substrate for
gluconeogenesis
competitive vs. non-competitive
inhibitors, competitive (i.e. alcohol
dehydrogenase binding ethanol,
methanol, ethylene glycol at the
same binding site) has no change
in Vm but an increase in Km (lower
affinity for ethanol, increasing
ethanol reverses the inhibtion)
non-competitive inhibitor
discuss Km and Vmax Lineweaver
(organophosphates and effect on
Burke
acetylcholinesteratse does not
bind to the same site as
acetylcholine, binds to another site
on the enzyme that decreases
velocity of the reaction) has a
decrease in Vm, but the Km
remains the same, since the
substrate still binds to the normal
site
what is the relationship between
fatty acid length and energy
production?

....

what is the method of eliminating

ammonia?

urea cycle
**located in the hepatocyte

what is the differential if

epinephrine is given and only small
branched chains found?

debrancher deficiency

draw cholesterol synthesis

-----

what is the rate limiting step in

glycogenolysis?

glycogen phosphorylase

what is the origin of apolipoprotein

100?

liver

what is the origin of apolipoprotein

48?

intestine

what is the reason why liver can

not use ketones for fuel?

liver cannot activate acetoacetate

in the mitochondria which requires
succinyl CoA; acetoacetate CoA
transferase (a thiotransferase
enzyme) in order to convert AcAc
into acetoacetyl CoA

what is wrong in McArdles

disease?

absent muscle phosphorylase,

increased glycogen in muscle, no
increase in lactic acid after
exercise

folate because alcohol increases

loss of folate in urine and stool
which offsets the amount of folate
A pregnant woman is a beer
present in beer; furthermore she
drinker---> what supplements does
would probably be taken off beer
she need?
because of fetal alcohol syndrome
and would need folate; iron is not
affected by beer drinking
what is the key hormone of the fed
state?

insulin

what is the key hormone of the

fasting state?

glucagon

know all the lysosomal storage

diseases

....

mannose 6-phosphate is involved

in what?

mannose 6-phosphate is involved

in transfer of dolichol (lipid) in the
RER in the synthesis of O-linked
glycosides

what are the reactions involving

NAD/NADH and NADP/NADPH?

...

what is the major source of

NADPH?

HMP shunt; malate

dehydrogenase reaction to a
lesser extent; NADPH supplies
reducing equivalents

Mutation changes an amino acid

sequence--> which one would
have the greatest effect on
migration in a serum protein
electrophoriesis?

one with the most negative

charges (most acidic) glutamine;
one that would remain closest to
the anode (negative pole) is the
most basic amino acid--arginine

what is the mechanism of

ketoacidosis in DKA

increased beta-oxidation of fatty

acids and production of acetyl CoA
which is used by the liver to
synthesize ketone bodies

where is the promotor location?

linear gene drawing with labels;

pick upstream location

what is the energy source for

protein synthesis?

GTP

LDH
what isoenzymes have 2 genes
and 4 subunits?

5 isotypes = LLLL, LLLH, LLHH,

LHHH, HHHH

name the second messanger

cGMP
atrial natriuretic peptide

name the second messanger

tyrosine kinase
insulin

name the second messanger

ion channels
nicotinic

what is the best method of

detecting relatedness of a new
bacteria?

restriction fragment lenght

polymophism

what is the enzyme used for PCR?

DNA polymerase

what is the source of glucose in a

brain in starvation?

alanine--> transaminated into

pyruvate

carriers ammonia in nontoxic form

what is the purpose of glutamine?
**most abundant amino acid

what is the purpose of tyrosine?

synthesis of melanin, synthesis of

neurotransmitters (dopamine, Nor,
Epi) decreased in PKU (must
supply tyrosine in diet)

inhibitory neurotransmitter blocked

by tetanus toxin, synthesis of delta
what is they purpose of glycine?
aminolevulinic acid in heme
synthesis, synthesis of bile
acid/salts
increased in aromatic amino acids-> phenylalanine, tyrosine,
tryptophan (menonic PTT) leads to
increased synthesis of false
what is the biochemistry of hepatic
neurotransmitters (GABA,
encephalopathy?
ocopamine) in hepatic
encephalopathy; branched chain
amino acids inhibit synthesis of
false neurotransmitters---reason
why they are given for treatment
Acid yields H+ and its conjugate
base.
Acid dissociates in water to yield
_____ and ______.
Base combines with H+ to form its
conjugate acid.
Base combines with _____ in
water to form ______.
(Acid=proton donor, base=proton
acceptor)
Acidic dissociation constant Ka
(formula)
Strong acid has a high/low Ka?
pKa
Strong acid has high/low pKa?

Ka=k(1)/k(-1)=[H+][A-]/[HA]
Stronger acids have higher Ka
pKa= -log(Ka)
Strong acid: pKa<2
Weak acid: pKa>10

Henderson-Hasselbalch equation

pH=pKa + log([A-]/[HA])

H1

Which histone is not in the

nucleosome core?

(negatively charged DNA loops 2x

around the positively charged
histone octamer (2 sets of H2A,
H2B, H3, H4). H1 ties the
nucleosome beads together in a
string.)

Heterochromatin

Condensed, transcriptionally
inactive (sterically inaccessible)

Euchromatin

Less condensed, transcriptionally

active (sterically accessible)

Purines
Which are purines?
How many rings?
Pyrimidines
Which are pyrimidines?
How many rings?

A, G
2 rings

C, T, U (CUT the PY)

1 ring

Deamination of _____ makes

uracil.

Cytosine

CG
Which nucleotides have a stronger
bond? Why?

Have 3 H bonds between them

instead of just 2 in AG bonds
(Higher G-C content=higher
melting point)
Nucleoside=base + ribose

Nucleoside?
Nucleotide?

Nucleotide=base + ribose +
phosphate (linked by 3'-5'
phosphodiester bond)

Amino acids needed for purine

synthesis?

Glycine, aspartate, glutamate

(make up back bone of purines)

Guanine has a ______.

Ketone

Thymine has a _______.

Methyl

Converson of 5'-phosphoribosyl-1pyrophosphate (PRPP) to 5'phosphoribosyl-1-amine

Committed step of de novo purine
nucleotide synthesis

Reciprocal substrate effect: how

does it balance the supply of
purine nucleotides?

Monosaccharides (simplest
carbohydrates) are _____ or
_____.
Pyranose sugars contain a (#)
membered ring whereas furanose
sugars contain a (#) membered
ring

Deficiency of this monosaccharide

derivative causes scurvy

Monosaccharide derivative needed

to form direct bilirubin and
glycosaminoglycans (GAGs)

Enzyme: glutamine PRPP

amidotransferase
(Enzyme activated by PRPP and
inhibited by the end products:IMP,
GMP, and AMP)
GTP is a substrate of AMP
synthesis and ATP is a substrate
for GMP synthesis
Both AMP and GMP are made
from IMP and can convert back to
IMP
Aldehydes or ketones
(glucose is an aldose, fructose is a
ketose)
Pyranose=6 membered ring
(glucose, galactose)
Furanose=5 membered ring
(fructose, ribose, deoxyribose)
Ascorbic acid (vitamin C)
Needed to synthesize collagen

Glucuronic acid

Sorbitol
Which sugar alcohol derived from
glucose leads to osmotic damage
of tissues in diabetes mellitus?

(osmotic damage in
lens=cataracts, Schwann
cells=peripheral neuropathy,
pericytes=retinopathy)

Maltose= ____ + _____

Glucose + glucose

Lactose= ____ + _____

Glucose + galactose

Sucrose= _____ + ______

Glucose + fructose

Enzyme to digest starch

(polysaccharide)

Amylase

Enzyme to cleave glycogen

Glycogen phosphorylase cleaves

at alpha-1,4 linkages to release
glucose units

Cellulose

Supplies no energy; human

digestive enzymes cannot
hydrolyze BETA-1,4 linkages
(insoluable fiber)
Human enzymes cleave other
polysaccharides like glycogen and
starch at alpha-1,4 linkages.

Hyaluronic acid

This and other GAGs are

negatively charged
polysaccharides that form a major
part of ECM

Simplest lipids

Fatty acid

Only 2 fatty acids that are essential

(must be supplied in diet)

Linoleic and linolenic

Do most fatty acids have an

even/odd # of carbon atoms?

Most are even

Vit B12 (methylmalonyl-CoA

mutase requires B12 as a cofactor.
What is required for metabolism of
If no B12, methylmalonyl-CoA
odd chained fatty acids?
accumulates and damages myelin)
Unsaturated fatty acids contain
one or more _____ ____.

Double bonds

Atherosclerosis
Trans fatty acids are a risk factor
for ________.
Fluidity of cellular membranes
correlates _____
(inversely/directly) with melting
point of fatty acids in membrane
phospholipids?
Increased cytosolic Ca2+ activates
__________ which causes cell
membrane damage in tissue
hypoxia.
What effect do corticosteroids
have in this process?

(Naturally occurring unsaturated

fatty acids have the cis
configuration)

Inversely

Phospholipase A2
Corticosteroids inactivate
phospholipase A2 thereby
decreasing release of arachidonic
acid.
Lung surfactant

Respiratory distress syndrome is

associated with a deficiency of
_______.

Sphingolipidoses (mechanism,
examples)

(decreases surface tension; often

in deficient in premies and infants
of diabetic moms)
Hereditary defects in lysosomal
enzymes that degrade
sphingolipids (mainly found in
white matter of CNS).
Tay-Sachs disease, Gaucher's
disease

Where are sphingomyelins,

cerebrosides, and gangliosides
found?

Myelin sheath (all are

sphingolipids)
(sphingomyelins are also in blood)

Cholesterol is a precursor for what

3 things?

Steroid hormones
Vitamin D (skin derived)
Bile acids
Short range, short term signaling
molecules.

Eicosanoids

Prostaglandins
Derived from AA by which
enzyme?
Major effects?
Inhibited by?

3 types are made from

arachadonic acid:
Prostaglandins (cyclooxygenase)
Thromboxanes (cyclooxygenase)
Leukotrienes (lipoxygenase)
Cyclooxygenase
Effects (vary by tissue)
1) Promote acute inflammation
(increase vasodilation, inflam
response=PGE2)
2) Vasodilation of afferent arteriole,
vasoconstriction of cerebral
vessels
3) Increase mucous barrier of
stomach (ulcers if too much
NSAIDs)
4) Decrease platelet aggregation
(PGI2)
5) Uterine contraction
Inhibited by aspirin, NSAIDs

Cyclooxygenase
Thromboxane A2
Derived from AA by which
enzyme?
Major effects?
Inhibited by?

Leukotrienes
Derived from AA by which
enzyme?
Major effects?
Inhibited by?

1) Platelet aggregation
2) Vasoconstriction
3) Bronchoconstriction
Cyclooxygenase inhibited by
aspirin (permanent inhibition of
production in platelets) and
NSAIDs
Lipoxygenase
LTB4:
1) Neutrophil chemotaxis and
adhesion
LTC4, LTD4, LTE4:
2) Bronchoconstriction
3) Vasoconstriction
4) Increase vascular permeability
Zileuton (inhibits lipoxygenase)
L isomer (D is found in bacterial
cell wall and some antibiotics)

Proteins are made of the L or D

isomer of amino acids?

(Asymmetry of alpha-carbon gives

rise to these 2 optically active
isomers)
Isoleucine, leucine, valine

Which 3 amino acids are increased

in maple syrup urine disease?
All are branched chain amino acids
What property do they have in
(hydrophobic aa's with nonpolar
common?
side chains)
Which aa accumulates in
phenylketonuria (PKU)? Which aa
must be supplied?

Phenylalanine accumulates;
tyrosine must be supplied

Which aa's stimulate growth

hormone and insulin?

Tyrosine is a precursor for what 3

things?

Arginine and histidine

(needed for growth in children)
Catecholamines, melanin, thyroid
hormones
(Ty)

What information would an ELISA It would tell you whether a certain

using a test antigen coupled to a antibody is present in the patient's
color-generating enzyme give you?
blood

True or False: Enzyme-linked

immunosorbent assay tests
antigen-antibody reactivity

True

What information would an ELISA It would tell you whether a certain

using a test antibody coupled to a antigen is present in the patient's
color-generating enzyme give you?
blood
Identify the technique: A test
antigen that is labeled with a colorgenerating enzyme can be used to
determine the presence of a
specific antibody. If the antibody is
present, the solution will have an
intense color reaction.

Enzyme-linked immunosorbent
assay (ELISA)

What is the advantage of a FISH

analysis over a karyotype?

The FISH analysis allows

researchers to identify anomalies
at a molecular level, including
deletions that are too small to see
on a karyotype

What laboratory technique is

represented with the acronym
FISH?

Fluorescent In Situ Hybridization

Basic aa's have a ______ (+/-)

charge at pH 7

Positive charge

Would lysine, arginine, or histidine

have a positive or negative charge
at physiological pH?

Would aspartate or glutamate have

a positive or negative charge at
physiological pH?

What is pI?
When pI>pH, the net charge on
the molecule is ___ (+/-)
Hydroxylation of proline and lysine
is important to form _____. What
cofactor is needed for this
reaction?

Precursor amino acid for serotonin,

niacin, melatonin

Positive
(these are basic aa's)

Negative
(these are acidic aa's)
pI is the isoelectric point (pH at
which the amino acid has zero net
charge)
When pI>pH, the aa has a positive
net charge.
Collagen
Vitamin C is needed for
hydroxylation (hydroxyproline and
hydroxylysine)

Tryptophan

Glycosylation of proteins (i.e.

hemoglobin and vessel basement
membranes) occurs in which
disease?
alpha-helix and beta-pleated sheet
are examples of ________
structure

Diabetes mellitus

Secondary
(primary structure determines
secondary and tertiary structures)
False, this is tertiary

T/F Quaternary structure is the 3-D

folded structure of a polypeptide
(native conformation)
Leucine zippers and zinc fingers
are common supersecondary
structures found in _____-binding
proteins
In tissue hypoxia, what leads to
denaturation of enzyme and
coagulation necrosis?
In glucose-6-phosphate
dehydrogenase deficiency,
increased ________ in RBCs
leads to Hb denaturation.
Some enzymes need cofactors or
coenzymes. Which one is a...
nonprotein organic molecule?
metal ion?

(quaternary is the organization of

multiple polypeptide chains, i.e.
dimers, tetramers)

DNA-binding proteins

Lactic acid accumulation (low pH

denatures proteins)
(Heavy metals denature stabilizing
bonds in proteins too)

peroxide

Coenzyme=nonprotein organic
molecule (i.e. vitamin derivatives)
Cofactor=metal ion

What is Km? What does a high Km

indicate about an enzymes affinity
for substrate?
In a zero order enzyme catalyzed
reaction, velocity is _______ of [S].
In a first order reaction, velocity is
_______ to [S].

Km=substrate concentration at
which reaction velocity is 1/2 Vmax
High Km indicates low enzyme
affinity for substrate (takes more
substrate to reach certain velocity)
Independent
Proportional
Km increases/decreases?
Increases (less enzyme affinity for
substrate)

Competitive inhibition:
Km increases/decreases?
Vmax increases/decreases?
Can increased substrate reverse
inhibition?
Examples?

Vmax increases/decreases?
Unchanged
Can increased substrate reverse
inhibition? Yes
Examples? Methotrexate (inhibits
dihydrofolate reductase), alcohol
(competes with methanol/ethylene
glycol)

Non competitive inhibitors:

Km increases/decreases?
Vmax increases/decreases?
Can be reversed by increased
substrate?
Heavy metals, aspirin, flurouracil,
and organophosphates are all
________ enzyme inhibitors

Km unchanged
Vmax decreased
Can't be reversed with increased
substrate

irreversible

How would the following affect

AST and ALT levels in serum?
Viral hepatitis
Alcoholic hepatitis
MI

Viral hepatitis: ALT>AST

Alcoholic hepatitis: AST>ALT
MI: AST only
Hbg is for O2 transport, Mbg is for
O2 storage

Hemoglobin vs. myoglobin

Hbg in RBCs, Mbg in muscle

Function?
Location?
# heme groups?
Saturation at PO2 in tissues?
Cooperative binding?

Hbg has 4 heme groups, Mbg has

1

In Prader-Willi syndrome, the allele

from which parent is
deleted/mutated? Which parent's
allele is imprinted?
In Angelman syndrome, the allele
from which parent is
deleted/mutated? Which parent's
allele is imprinted?

What form of iron is normally found

in RBCs and can bind O2?

Hbg has low sat in tissues, Mbg

has high sat (only release O2 if
tissues hypoxic)
Hbg yes, Mbg no
Paternal allele is deleted or
mutated (chr15q partial deletion)
Maternal allele is imprinted
(silenced) normally
Maternal allele is mutated/deleted
(chr15)
Paternal allele is imprinted
(silenced) normally

Reduced form (Fe2+)

What form of iron is found in

methemoglobin? What does this
cause?

Oxidized form (Fe3+); causes

cyanosis b/c can't bind O2 so O2
sat decreases (can cause other
symptoms like dyspnea and coma
at higher concentrations)
(Can be caused by chemicals, like
nitrates, or inherited conditions,
like G6PD deficiency)

How do CO and methemoglobin

affect O2 saturation?

Decrease it (methemoglobin can't

bind O2, hemo/myoglobin have
much greater affinity for CO)

How do you treat CO poisoning?

100% O2 or hyperbaric O2

What does a left shift in the O2

binding curve indicate about Hb
affinity for O2?
What causes a left shift?

Left shift indicates increased

affinity for O2 (promotes O2
loading)
1) Methemoglobin
2) CO
3) HbF
4) Decreased CADET (low pCO2,
low acid (alkalosis), low 2,3 DPG,
low temp)

Right shift indicates a decreased

Hb affinity for O2 (promotes
unloading O2)
What does a right shift in the O2
binding curve indicate about Hb
affinity for O2?
What causes a right shift?

1) High pCO2
2) High acid (acidosis)
3) High 2,3 DPG
4) Exercise
5) High temp
CADET

What is the major vehicle for

carrying CO2 in blood?

Bicarb

Diabetes mellitus ( >5%)

HbA1c (glycosylated HbA) is high
in what disease?

Does HbF increase/decrease

sickling in patients with sickle cell
anemia?

(indicates levels of blood glucose

for about last 120 days; marker for
long-term glycemic control)

Decrease

Patients with sickle cell trait are

O2 tensions are low enough to
usually asymptomatic except in the induce sickling and renal damage
renal medulla. Why?
(renal papillary necrosis)

What causes acquired

methemoglobinemia?
How do you treat it?

Causes: nitrate compounds,

sulfonamides, aniline dyes
(convert to Fe3+)
Treatment: IV methylene blue
(primary), vitamin C (ancillary);
help reduce Fe3+ to Fe2+

What aa is every third aa in

collagen?
What is needed to hydroxylate
lysine and proline to promote cross
bridging?
What disease involves a defect in
collagen
synthesis/secretion/degredation,
loose skin, hyper elastic skin,
aortic aneurysms, and colon
rupture?
Decreased synthesis of type 1
collagen, pathogenic fractures,
blue sclera

Glycine
Vitamin C

Ehlers-Danlos syndrome

Osterogenesis imperfecta
(autosomal dominant)
(blue sclera=seeing choroidal
veins under the thin sclera)

Sex-linked dominant disorder

caused by defective type IV
collagen. Glomerulornephritis,
sensorineural hearing loss, ocular
defects.

Alport's syndrome

Tensile strength of collagen

weakened due to lack of crossbridges

Scurvy (vit D deficient)

T/F Cholesterol is found only in the

outer lipid monolayer of the
membrane lipid bilayer.

False, cholesterol is found in the

outer and inner monolayers

Do the following increase or

decrease membrane fluidity?
Do the following increase or
decrease membrane fluidity?
Long-chain saturated fatty acids
Cis unsaturated fatty acids
Cholesterol
Higher temperatures

Facilitated diffusion:
Requires transport protein?
Works against gradient?
Coupled to ATP hydrolysis?

Primary active transport:

Requires transport protein?
Works against gradient?
Coupled to ATP hydrolysis?
Powered by movement of
cotransported ion?

Long-chain saturated fatty acids:

Decrease
Cis unsaturated fatty acids:
Increase
Cholesterol: Decrease
Higher temperatures: Increase
Requires transport protein? Yes
Works against gradient? No
Coupled to ATP hydrolysis? No
(Passive moves down
concentration gradient. If works
against a gradient, needs ATP
either directly or indirectly)
Requires transport protein? Yes
Works against gradient? Yes
Coupled to ATP hydrolysis? Yes
(directly; indirect in secondary
active transport)
Powered by movement of
cotransported ion? No (true for
secondary active)

In tissue hypoxia, the decrease in

ATP production allows ____ to
Ca2+; no ATP means Ca-ATPase
come into the cell and activate
stops working and Ca can come in.
phospholipases & caspases
leading to irreversible cell damage.

Dysfunciton in exocrine glands

leading to high Na/Cl in sweat,
highly viscous obstructive mucous,
malabsorption, and recurrent
Pseudomonas aeruginosa
respiratory infections.

Cystic fibrosis
CFTR defect (CFTR is a Cl
ATPase pump)

Which disease?
What's the defect?
Cystine kidney stones (cystine has
hexagon shaped crystal in urine)
Which disease?
What's the inheritance?
Pellegra-like symptoms (diarrhea,
dermatitis, dementia); impaired
absorption of tryptophan reduces
synthesis of niacin
Familial hypercholesterolemia
Inheritance?
Lacking which receptor's function?
Susceptible to?
Trimeric G proteins are in the
active state when bound to ____
and an inactive state when bound
to _____.

What effect does the G protein

alpha subunit Gs have on its
second messenger?

Cystinuria
Autosomal recessive (messed up
carrier protein that mediates
resorption of dibasic amino acids
like cystine)

Hartnup's disease

Autosomal dominant
Lack low-density lipoprotein (LDL)
receptors
At risk for early MI/stroke b/c
premature atherosclerosis
GTP; GDP
(In the GTP bound state, the alpha
subunit (G-alpha) either
stimulates/inhibits an effector
protein)
Stimulates adenylate cyclase to
increase cAMP

What effect does the G protein

alpha subunit Gi have on its
second messenger?

Inhibits adenylate cyclase to

decrease cAMP

What effect does the G protein

alpha subunit Gq have on its
second messenger?

Stimulates phospholipase C to
increase IP3 and DAG

The Gq subunit activates

phospholipase C, which activates
PIP2 increasing IP3 and DAG.

IP3 stimulates release of Ca2+

from the ER

What do IP3 and DAG do?

DAG activates protein kinase C

What happens when ligand binds

receptor tyrosine kinase?

Autophosphorylation (activates)

Steroid hormones bind to

receptors in the _____ and the
hormone receptor complex moves
to the _______.

Cytosol; nucleus

Tyroxine and retinoic acid have

receptors in the _______.

Nucleus (receptor has a hormonebinding domain and a DNA-binding

domain)

Cholera permanently activates ___

(G protein alpha subunit) by
catalyzing ADP ribosylation of the
subunit. What symptom does this
cause?

Gs; resulting increase in cAMP in

intestinal mucosa causes a
secretory diarrhea with a loss of
isotonic fluid
(enterotoxigenic E. coli toxin also
activates Gs)

Pertussis toxin permanently

inhibits ___ (G protein alpha
subunit) by catalyzing ADP
ribosylation of the subunit. What
symptom does this cause?
IgG autoantibody against TSH
receptors producing
hyperthyroidism.
What disease?
What type of hypersensitivity rxn?

Gi; resulting increase in cAMP

increases mucous secretion in
respiratory tract (whooping cough)

Graves' disease
Type II hypersensitivity
If low GTPase activity, always
bound to GTP thus always active.

Ras oncogene encodes a mutant

Ras protein with very low GTPase
(Ras is a type of G protein that
activity. How does this contribute functions in signaling pathway from
receptors like epidermal growth
to increased cell proliferation?
factor and platelet-derived growth
factor receptor.)
Basal metabolic rate (~60% of
daily expenditure; determined
mostly by weight)
Energy consumption of individual
at rest
Daily energy expenditure= BMR +
thermic effect foods + physical
activity
Where are the following found in
Amylase=saliva & pancreatic
the GI tract?
secretions
Lactase, sucrase,
Amylase
maltase=intestinal brush border
Lactase
(damage or loss of enzymes can
Sucrase
cause osmotic diarrhea)
Maltase

Functions of insoluble fiber

1) increase intestinal motility/soften

stool
2) decrease risk of colon cancer by
absorbing lithocholic acid
3) reduce absorption of
cholesterol, fat soluable vitamins
(Insoluable fiber has beta-1,4
glycosidic linkages which can't be
hydrolyzed by amylase)

# of double bonds in...

monounsaturated fat?
polyunsaturated?
saturated?

1
2+
0
Linoleic (omega 6) & linolenic
(omega 3)

Essential fatty acids

What are they?
Function?
Deficient?

Functions: 1) maintain fluidity of

cellular membranes 2) make
arachidonic acid (from linoleic) 3)
prevent platelet aggregation
(linolenic)
Deficient: scaly dermatitis, poor
wound healing, hair loss
Tiny globule containing lipids that
are resorbed into intestinal
mucosal cells via passive diffusion

What's a micelle?
(contain 2-monoaclyglycerol + FFA
(triacylglycerol), phospholipids, vit
DAKE, free cholesterol)

Pancreatic lipase breaks it into 2monoaclyglycerol + FFA which

gets absorbed into mucosal cells in
How is triacylglycerol absorbed by
a micelle. Reformed into
the gut?
triacylglycerol in the nascent
chylomicron and goes into
lymphatics (major source of energy
to cells)
3 major categories for fat
malabsorption (steatorrhea)

What would still be absorbed

normally in pancreatic
insufficiency?

Pancreatic insufficiency
Poor bile salt resorption/deficiency
Small bowel disease
Carbohydrates (salivary amylase
and disaccharidases in brush
border is enough)
Fat and protein malabsorbed
Micellarization of fats

Bile salt function

(lack causes steatorrhea)

Causes of bile salt deficiency

Characteristic clinical findings in

malabsorption

1) Liver cirrhosis (can't make it

from cholesterol)
2) Terminal ileum
disease/removed (can't resorb)
3) Excess binding of bile salts
(cholestyramine)
4) Bacterial overgrowth (destroys
bile salts)
1) Diarrhea, anemia, malnutrition,
weight loss
2) Night blindness (vit A), rickets
(vit D), hemorrhagic diathesis, GI
bleeds (vit K)

Begins in stomach: pepsin (chief

cells), acid denatures (parietal
cells)
Pancreas: trypsin and other
proteases
What is needed to digest proteins?
Intestinal epithelial cells:
peptidases
Uptake into portal circulation:
carrier protein requires ATP to
transport aa's from lumen to circ.
Urea
When amino acids are oxidized
their nitrogen atoms are fed into
the _____ cycle in the liver.

What's nitrogen balance? What

would a positive nitrogen balance
indicate? Negative?

(excreted in urine; people in renal

failure should eat low protein diet
so make less urea)
Nitrogen balance= amount of
nitrogen (protein) consumed amount of nitrogen excreted
+ balance=new proteins being
made (i.e. pregnancy, growing,
lactation, healing)
- balance=tissue protein
breakdown (i.e. burns)

Diet deficient in both proteins and

calories

Extreme muscle wasting, growth

retardation, usually during 1st year
of life from total calorie deprivation

Marasmus
(total calorie deprivation)

Marasmus

Symptoms of Kwashiokor

1) Pitting edema/ascites
2) Enlarged fatty liver (decreased
apolipoproteins)
3) Anemia
4) Diarrhea (loss of brush border
enzymes)
5) Defects in cellular immunity
6) Less extreme muscle wasting

Diet deficient in protein but

adequate in calories (carbs)

Kwashiokor

Water soluble vitamins generally

function as ________ in enzymatic
reactions.

cofactors

p-ANCA

Churg-Strauss
Polyarteritis nodosa
Ulcerative colitis

c-ANCA

Wegener's

Anti-double stranded DNA

Systemic lupus erythematous

Anticentromere

CREST Syndrome (calcinosis,

Raynaud's phenomenon,
esophageal motility syndrome,
sclerodactyly, telangiectasia)
Localized systemic sclerosis
(vasculotide)

Anti-DNA topoisomerase

4 categories of water soluble

vitamin function

Deficiency of vitamin B1 (thiamine)

Diffuse systemic sclerosis

1) Energy metabolism (B1-3, B5,

biotin(B7))
2) Amino acid metabolism
(pyriodoxine, pyridoxal,
pyridoxamine (B6)
3) RBC/neural development
(folate, B12)
4) Collagen synthesis (vit C)
1) Wernike-Korsakoff
2) Peripheral neuropathy (dry
beriberi)
3) Congestive cardiomyopathy
(wet beriberi)

Deficiency of vitamin B2
(riboflavin)

Corneal neovascularization,
glossitis, cheilosis, anglular
stromatitis

Deficiency of B3 (niacin)

Pellagra (diarrhea, dermatitis,

dementia)

Deficiency of vit B6 (pyridoxine)

Mechanism for clinical findings in

thyamine (B1) deficiency

Sideroblastic anemia, peripheral

neuropathy, convulsions
Loss of ATP from dysfunction of
pyruvate and alpha-ketoglutarate
dehydrogenase reactions
(normally gain 2 NADH)
wet and dry beriberi (B1 used in
pyruvate dehydrogenase rxn)
Deficient in B1 (thiamine)

Wernicke-Korsakoff syndrome

What can cause niacin (B3)

deficiency?

Deficiency in which water soluble

vitamins affect energy
metabolism?

_________ is a water soluble

vitamin that is part of the citric acid
cycle and the electron transport
chain.

Can precipitate acute thiamine

deficiency in alcoholics by giving
IV glucose (thiamine depleted by
pyruvate dehydrogenase reaction)
1) Diet deficient in niacin and
tryptophan
2) Tryptophan lost (Hartnup's dz.)
3) Typtophan used excessively
(carcinoid syndrome)
Cofactors in rxns to make ATP:
B1, B2, B3, B5, B7 (prime B's)
(thiamine, riboflavin, niacin,
pantothenic acid, biotin
respectively)

Riboflavin (B2)

What are the 2 active forms of

niacin?

NAD+ (rxns with this are catabolic,

i.e. glycolysis)
NADP+ (anabolic, i.e. fatty acid
synthesis)
B6 (pyridoxine)

Isoniazid therapy can cause

deficiency of what vitamin?

(Alcoholics and babies who drink

only goat's milk)
1) Removes methyl from Nmethyltetrahydrofolate to make
dTMP for DNA synthesis
-W/o it, megaloblastic anemia
(folate too)

Function of vit B12 (cobalamin)

2) Transfers methyl groups to

homocysteine to make methionine
-W/o it, high
homocysteine=thrombosis risk
(folate too)
3) Odd chain fatty acid metabolism
(cofactor to convert methylmalonyl
CoA to succinyl CoA)
-Accumulation of methylmalonyl
CoA converts to methylmalonic
acid=neurotoxic (not folate!)

What can cause B12 deficiency?

Which enzymopathies (4) are Xlinked recessive?

1) Diet (pure vegan)

2) Pernicious anemia (need
intrinsic factor for absorption in
terminal ileum)
3) Chronic pancreatitis (need
pancreatic enzymes to cleave R
factor from saliva so IF can bind)
4) Terminal ileal disease (Crohn's,
celiac)
5) Fish tapeworm
6) Bacterial overgrowth
1) Hemophilia A
2) Hemophilia B
3) Glucose-6-phosphate
dehydrogenase deficiency
4) Lesch-Nyhan syndrome
(hypoxanthine-guanine
phosphoribosyltransferase
(HGPRT)
(usually enzymopathies are AR)
Random inactivation of one X
chromosome in women in each
somatic cell during
embryogenesis.

What's lyonization?

What's a Barr body?

(Sometimes female carriers of X

linked diseases can have mild
symptoms if a large enough
proportion of the normal X has
been inactivated)
Condensed, drumstick-shaped
body of DNA seen in the periphery
of nuclei in females; inactivated X
chromosome (lyonization)

Which general types of mutations

are inherited in an autosomal
recessive pattern?

Which general types of mutations

are inherited in an autosomal
dominant pattern?

Functions of folate

1) Enzymes (PKU, galactossemia,

Tay-Sachs)
2) Transport proteins
(thalassemias, cystic fibrosis)
1) Structural proteins (hereditary
spherocytosis, osteogenesis
imperfecta, Marfan's)
2) Developmental gene expression
(achondroplaia)
3) Metabolic receptors (familial
hypercholesterolemia)
DNA synthesis (tetrahyrofolate
receives a methylene group which
is then transfered by thymidylate
synthase to dUMP to make dTMP
for DNA synthesis)

How does methotrexate work?

Inhibits dihydrofolate reductase

(this enzyme usually converts FH2
to tetrahydrofolate (FH4) which is
needed for DNA synthesis)

What substances can deplete

folate?

1) methotrexate and trimethoprim

(both inhibit dihydrofolate
reductase)
2) Alcohol and oral contraception
(blocks resorption in intestine)

How do you differentiate folate

deficiency from B12 deficiency?

1) No neuro deficits
2) Normal levels of methylmalonic
acid

Where does biotin (B7) come

from?

Bacterial synthesis in intestine

Vit C is needed for...

(5 things)

Fat soluable vitamins are stored in

____ and ______.

Vitamin A (aka, retinol, retinal,

retinoic acid) is derived from
_____.

Which vitamin is a component of

visual pigments in the rod?

1) Hydroxylation of lysine and

proline during collagen synthesis
2) Reduces non-heme iron (Fe3+)
to ferrous state (Fe2+) for
resorption (deficiency can also
cause IDA!)
3) Cofactor in conversion of DA to
norepi in catecholamine synthesis
4) Kepps tetrahydrofolate in its
reduced form
5) Antioxidant
liver; adipose tissue
(function as hormones, cofactors,
hemostatic agents and
antioxidants)
Beta carotenes (provitamin A)
(too much beta can turn skin
yellow, but sclera white)
Vit A
(Def.=night blindness)

Vit A deficiency

Night blindness (dry eyes, etc.)

Skin abnormalities (follicular
hyperkeratosis, dryness)
Lung abnormalities (bronchitis,
pneumonia, maybe cancer)
Growth retardation
Poor wound heal

Vit A excess

Increased intracrainial pressure

(papilledema/convulsions); liver
tox; bone pain

Vit D deficiency

Rickets (kids) osteomalacia

(adults); hypocalcemia

Vit D excess

Hypercalcemia (renal calculi)

Vit E deficiency

Hemolytic anemia
Peripheral neuropathy
Posterior column degeneration
(loss of vibratory, proprioception)
Retinal degen
Myopathy

Vit E excess

Decreased synthesis of vit K

dependent coagulation factors

Vit K deficiency

Bleeding diathesis (GI,

ecchymoses, prolonged PT)

Vit K excess

Hemolytic anemia/jaundice in
newborn if mom has too much Vit
K

Endogenous: photoconversion of
7-dehydrocholesterol to vit D3
Exogenous absorbed in GI:
Plants=ergocalciferol (D2);
animals=cholecalciferol (D3)
How is active vit D made?

1) D3 converted to 25-OH Vit D by

25 hydroxylase in liver
2) 25-OH Vit D converted to 1,25OH Vit D by 1-alpha hydroxylase in
kidneys* (enhanced by PTH)
*macrophages can do this too so
people with sarcoidosis can get
hypercalcemic)
1) GI: resorb Ca and phosphorous
2) Kidney: increase resorb Ca
3) Bone: interacts w/receptors on
osteoblasts (mobilize alkaline
phosphatase, less bone
mineralization)

What's vit D do?

Type 1 vs. type 2 vit D deficiency

rickets

w/PTH vit D can

1) increase mobilization of Ca from
bone (stimulates conversion of
macrophage stem cells to
osteoclases)
2) Maintains serum Ca
concentration
Type 1: Deficiency of 1-alpha
hydroxylase
Type 2: Deficiency of vit D
receptors on target tissues

Most common cause vit D

deficiency

Renal failure (no 1-alphahydroxylase)

Scavenges free radicals to
prevent...

Why is Vit E's antioxidant

properties important?

What does vitamin K do to vit K

dependent coagulation factors?

1) oxidation of LDL (prevent

atherosclerosis)
2) oxidation of RBCs (prevent
hemolysis). Vit E protects
Erythrocytes
Gamma carboxylates them in the
liver so they can bind to Ca
(essential for clotting)
Factors II, VII, IX, X, protein C & S
need this
Inhibits hepatic epoxide reductase
(reduces vit K to active form)

How does Coumadin work?

Factors II, VII, IX, X, protein C & S
need this
What do some newborns need to
prevent hemorrhagic disease of
newborn?

Vit K injections (lack bacteria in

bowel and only have breast milk
which is poor in vit K)

How does an alkalotic state affect

serum Ca? Symptoms?

Low serum H+ so H+ comes off

albumin exposing more sites for
Ca to bind (less ionized Ca in
blood)
Tetany, etc.

How does hypoalbuminemia affect

serum Ca? Symptoms?

Decrease total Ca w/o changing

free ionized Ca.
No symptoms

1) PTH: more resorb Ca in kidney;

release Ca from bone
2) Vitamin D: increases Ca resorb
How is Ca regulated (3)?
in gut and kidney, mobilize Ca
from bone
3) Calcitonin (C cells in thyroid):
inhibits osteoclasts
PTH: binds osteoblasts to
stimulate osteoclasts (estrogen
inhibits this to prevent
What cells have receptors for PTH
osteoporosis!)
and calcitonin?

Causes of hypocalcemia

Causes of hypercalcemia

Calcitonin: binds osteoclasts and

inhibits them
1) Hypoalbuminemia (most
common; asymptomatic)
2) Hypomagnesemia (most
common pathologic cause; need
Mg for PTH secretion)
3) Vit D deficient
4) Primary hypoparathyroidism
(DiGeorge)
(tetany, Chvostek's sign,
carpopedal spasm, muscle
spasms)
1) Malignancy
2) Primary hyperparathyroidism
3) Sarcoidosis (granuloma
synthesis of vit D)
(stones, groans, bones, psychiatric
overtones)

Addition of ______ (mineral) traps

monosaccharides like glucose in
cells.

Phosphate
(forms glucose-6 phosphate)

Control of phosphate

1) PTH increases release from

bone and increases excretion in
kidneys
2) Vit D increase resorption from
small bowel

____ is needed for active transport

of glucose, galactose, and amino
acids in small intestine

Na

Causes of hyponatremia?
Symptoms?

Causes of hypernatremia?
Symptoms?

How does hypokalemia affect

insulin secretion?

1) Thiazide and loop diuretics

2) SIADH (resorb too much water
and dilute Na)
3) CHF/chronic liver disease:
dilutional effect from retention
Cerebral edema, convulsions
1) Osmotic diuretics: mannitol
concentrates Na by losing free
water; excess urea and glucosuria
can do the same
2) Diabetes insipidus (no ADH
activity)
Mental status changes;
convulsions (similar symptoms to
hypoNa
Hypokalemia inhibits insulin
secretion; hyperkalemia promotes
it
(insulin makes K go into cells)

Heart rate slows; stops in diastole

Symptoms of hyperkalemia?
(give insulin to drive K into cells)
Mg is cofactor of adenylate cyclase
involved in activation of PTH
How does Mg affect Ca in serum?
(increases PTH synthesis and
release) so increases Ca in serum

Causes of hypomagnesemia?

Causes of hypermagnesemia?
Symptoms?

1) Alcoholism (most common;

causes increased renal loss)
2) Diuretics and other drugs that
increase renal loss
Can cause hypocalcemia (tetany)
1) Renal failure
2) Treatment of eclampsia with
magnesium sulfate

Neuromuscular depression,
bradycardia (Mg needed for nerve
impulse propagation)
In the ferrous (Fe2+) state from
degraded heme. Most stored as
What form of iron is absorbed from
apoferritin in enterocyte. Small
meat? Where does it go?
amount is transfered to plasma
transferrin (circulatting binding
protein of iron)
ferritin
Serum _____ would be low in iron
deficiency.

(serum ferritin reflects iron stores

in bone marrow)

When iron stores in

bone/macrophages are decreased,
liver produces ____(more/less)
transferrin then
_______(increasing/decreasing)
total iron binding capacity.
Cause of iron deficiency in...
Newborn?
Child?
Woman <50?
Man <50?
Man/woman >50?

Iron overload diseases?

Plummer-Vinson syndrome
(esophageal webs, glossitis, spoon
nails, achlorhydria) results from
deficiency in ____.

more
increasing

Newborn: bleeding Meckel's

diverticulum
Child: bleeding Meckel's
diverticulum; milk diet
Woman <50: Menorrhagia
Man <50: Peptic ulcer dz.
Man/woman >50: Colon
polyps/cancer
1) Hemochromatosis
2) Hemosiderosis
3) Sideroblastic anemia (due to
pyridoxine def., lead poisoning,
alcohol)

iron

poor wound healing; loss of taste

and smell
Zinc deficiency
(also perioral rash, hypogonadism,
growth retardation)

Copper deficiency

Microcytic anemia (decreased

ferroxidase activity); dissecting
aortic aneurysm

Defect of secreting copper in bile

Wilson's disease

Low serum ceruloplasmin

Wilson's dz.

Iodine deficiency

Goiter

Muscle pain/weakness
Cardiomyopathy
Selenium deficiency
Needed to make glutathione
(antioxidant)

Fluoride deficiency

Dental caries

Chromium deficiency

Impaired glucose tolerance;

peripheral neuropathy

______(+/-) free energy changes

(delta G) allow coupled reactions
to proceed spontaneously in a
forward direction.

Negative
i.e. in metabolism, ATP hydrolysis
is coupled to an energetically
unfavorable reaction