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213 Cards in this Set

  • Front
  • Back
fat-soluble vitamins
-how absorbed
-what causes malabsorption
Vit "ADEK"

-higher risk for toxicity than water-soluble vitamins b/c these are stored in fat
-absorbed from gut in term ileum
==>thus, ppl at risk for deficiencies of fat-soluble vitamins are ppl who malasorb fat:
-celiac sprue
-ingesting mineral oil
water-soluble vitamins
Goljan: water-soluble vitamins are co-factors for biochemical rxns

(cofactor) for rxns involving this ==>enzyme

B1(=thiamine) ==>FFP
B2(=riboflavin) ==>FAD, FMN
B3(=niacin) ==>NAD+
B6(=pyridoxine) ==>PP
C (ascrobic acid)
other names for Vit B6
dermatitis, diarrhea, and glossitis
Vit B deficiencies
dermatitis, diarrhea, & dementia
Vit B3 (niacin) deficiency
Vit A
Vit A=retinol ("retinol"==>sounds like retina==>eye)

*deficiency=night blindness
*fxn=component of visual pigments (retina)
*xs=arthralgias, skin changes, fatigue, H/A, alopecia, sore throat
Vit B1
Vit B1=thiamine

1. BeriBeri (mneum: "Ber1-Ber1")

a. dry beriberi- polyneuritis, muscle wasting

b. wet beriberi-heart failure (dilated cardiomyopathy b/c not enough ATP)==>edema ("wet" b/c edema=fluid)

2. Wernicke-Korsakoff

*Wernicke encephalopathy
[all signs of being drunk]

*Korsakoff psychosis
-lack of memory ("blackouts" from being drunk)

-Fxn of thiamine:
*co-factor for:
-[Goljan] dehydrogenase rxns, i.e. pyruvate dehydrogenase, which convers pyruvate==>Acetyl CoA==>TCA cycle (ATP!!)
*thus, if no thiamine, major ATP depletion
==>mental status abnl
==>cardiac myopathy (both ventricles enlarged b/c heart must work harder)

[First Aid: "cofactor for oxidative decarboxylation of alpha-keto-acidds (pyruvate, alpha-ketoglutarate]

2. transketolase in HMP shunt
Vit B2
Vit B2=Riboflavin

*angular stomatitis/cheilosis
(irritation and fissuring in corners of lips)
*corneal vascularization

-Fxn: cofactor in redox rxns (FADH2, FMN)
Vit B3

-redox rxns (NAD, NADP) (mneum: "N"AD derived from "N"iacin)
-Niacin derived from Trp using Vit B6

Deficiency of niacin(="Pellagra") d/t:
-Hartnup dz (decr Trp absorption)
-Carcinoid synrome (incr Trp metabolism)
-INH (decr Vit B6)

Sx of Pellagra ("3 D's"):
MC vit deficiency in US?
folate deficiency (b/c americans don't eat enough veggies)
ethanol metabolism
1. alcohol dehydrogenase converts alcohol==>acetaldehyde

2. acetaldehyde dehydrogenase converts acetaldehyde==>acetate

-alcohol dehydrogenase operates via zero-order kinetics
-Disulfiram ("Antabuse") inhibits acetaldehyde dehydrogenase==>acetaldehyde accumulates==>worsens the hangover!
ethanol hypoglycemia
ethanol metabolism incr NADH/NAD+ ratio in liver
==>diverts pyruvate to lactate & OAA to malate
==>shunts away from gluconeogenesis (==>hypoglcycemia) & toward fatty acid synthesis (==>hepatic fatty change="hepoatocellular steatosis")
kwashiorkor vs. marasmus
PROTEIN deficiency
==>cannot put proteins around VLDL (cannot form lipoprotein)
==>liver cannot ship out VLDL's (fats)
==>huge fatty liver==>swollen belly

Also, liver prob==>cannot make albumin==>edema

Marasmus=energy (calorie) deficiency
==>lose sub-Q fat
==>tissue and muscle wasting
chromatin structure
"beads on a string" (beads=(+) histone, string= (-)DNA)

*(-) DNA loops twice around each nucleosome core (2 each of H2A, H2B, H3, and H4)

*H1 holds ties nucleosomes together in a string (30-nm fiber)
-transcriptionally inactive
-not condensed
-transcriptionally active
substituting purine for purine or pyrimidine for pyrimidine

mneum: transItion=Identical type
substituting purine for pyrimidine or vice versa

mneum: transVersion=conVersion b/w types
what does this mean:

"The genetic code is unambiguous."
each codon specifies only 1 aa
what does this mean:

"The genetic code is commaless."
start from fixed point and read bases continuously
What does this mean:

"the genetic code is non-overlapping."
Read from fixed starting point as a continuous sequence of bases.
What does this mean:

"the genetic code is redudant."
more than one codon can code for the same aa.
What does this mean:

"the genetic code is degenerate.
more than one codon can code for the same aa.
replication in eukaryotes vs. prokaryotes
*multiple origins of rep
*rep begins in A-T rich region (TATA box)

*single origin of repliation (goes in a circle)
*continuous bidirectional DNA synthesis on leading strand and discontinuous (Okazaki fragments) on lagging strand
DNA topoisomerases
creates nick in helix to relieve supercoils (AKA unknot the DNA)
==>then helicase can unwind the 2 strands so DNA can be replicated/transcribed
makes RNA primer, on which DNA polymerase III can initiate replication
DNA polymerase III
*elongates chain in 5'==>3' direction (adds deoxynucleotides to 3' end til it reaches primer of the preceding segment)

*exonuclease proofreads in 3==>5' direction
DNA polymerase I
excises RNA primer w/5'-->3' exonuclease and replaces w/DNA
DNA ligase
nucleotide excision repair
-specific endonucleases remove and replace short section of DNA around the damage (e.g. pyrimidine dimers, methylated bases, chemical adducts formed by carcinogens and chemotherapeutic drugs)
-DNA poly and ligase fill and reseal the gap, respectively

*this is mutated in xeroderma pigmentosa (dry skin w/melanoma and other cancers)
xeroderma pigmentosa
(dry skin assoc w/melanoma and other cancers)

defective nucleotide excision repair
base excision repair
1. specific glycosylases recognize and remove damaged bases (e.g. U, hypoxanthine and xanthine from deamination, and oxidized bases)

2. AP endonuclease cuts DNA at apyrimidine site

3. empty sugar removed

4. gap filled and resealed
mismatch repair
1. unmethylated, newly synthesized string is recognized

2. mismatched nucleotides removed

3. gap filled and resealed

*this process is defective in HNPCC (Hereditary Non-Polyposis Colon Cancer)
nonhomologous end joining
just like it sounds: non-homologous ends of 2 DNA fragments are brought together
Synthesis direction of DNA/RNA/protein
DNA, RNA, and protein are all synthesizedin 5'--->3' direction

5' of incoming nucleotide bears ATP (E for bond)

3' of nascent (growing) chain is the target)
how are aa's linked?
N to C
types of RNA
mRNA=largest (mRNA= "m"assive)
tRNA=smallest(tRNA= "t"iny)
rRNA=most abundant (rRNA= "r"ampant")
RNA polymerases

RNA polymerase I makes rRNA
RNA polymerase II makes mRNA
RNA polymerase III mkaes tRNA

(note: I, II, and III are numbered as their products are used in protein synthesis)

RNA polymerase (multisubunit complex) makes all 3 kinds of RNA
mRNA initiation codon
-codes for AUG=Methionine
-maybe removed before translation completed

-codes for formyl-methionine (f-Met)

mneum: "AUG inAUGurates protein synthesis"
mRNA stop codons
UGA ("U Go Away")
UAA ("U Are Away")
UAG ("U Are Gone")
site where RNA poly and other TF's bind to DNA upstream from gene locus (AT-rich upstream sequence with TATA and CAAT boxes)
*stretch of DNA where TF's bind==>regulate gene expression

*can be located close to, far from, or even within (in an intron) the gene it regulates
site where negative regulators (repressors) bind
splicing of mRNA
1. primary transcript combines w/snRNP's to form spliceosome

2. Generate intermediate lariat structure (composed of introns)

3. Lariat released to remove intron precisely & join 2 exons
RNA processing
*occurs in EUKARYOTES

intial transcript=hnRNA (heterogenous nuclear RNA)

1. 5' cap (7-methyl-G)
2. 3' tail (~200 A's)
3. splicing

==>now it's called "mRNA"
all tRNA's (euk and prok) have CCA at 3' end
what ensures accuracy of aa selection?
1. aminoacyl tRNA synthetase (scrutinizes aa before and after it binds tRNA; if incorrect, it hydrolyzes bond b/w tRNA & aa)

2. bonding of charged tRNA (=anticodon) to codon
tRNA wobble
accurate base pairing depends only on 1st two bases of codon;
-thus different bases in the 3rd "wobble" position may code for same tRNA/aa
protein synthesis

Initiation factors help assemble the 30S ribosomal subunit w/initiator tRNA, released when mRNA and ribosomal subunit assemble w/the complex

-"A"TP= tRNA "A"ctivation (charging)
-"G"TP=tRNA "G"ripping and "G"oing places (translocation)
-"A" site=incoming "A"minoacyl tRNA
-"P" site=accomodates growing "P"eptide
-"E" site=holds "E"mpty tRNA as it exists
Heinz bodies
G6PD deficiency

(Heinz bodies=altered Hg precipitates within RBC's)
inheritance pattern of G6PD deficiency
X rec
who gets G6PD deficiency?
-boys (X-rec)
HMP shunt
=Pentose Phosphate Pathway

Purpose=Generate NADPH, which is req for:
--FA & steroid syn
--keeping glutathione (inside RBC's) in its reduced form (neutralize free radicals to prevent hemolytic anemia)

*all rxns occur in cytoplasm
*no ATP used or produced
*occur in
--lactating mammary glands
--adrenal corex
(=places for fatty acid or steroid synthesis)

1. Oxidative (irreversible)=G6PD (*rate-limiting enzyme in HMP shunt)
==>produces NADPH

2. Nonoxidative (reversible)=
Transketolase (*req thiamine);
~Ribose-5-P (nucleotide syn)
~G3P, F6P (glycolytic intermediates)
G6PD deficiency
G6PD is rate-limiting enzyme in HMP shunt (PPP), which produces NADPH, which is req to keep glutathione in its reduced form (in order to neutralize free radicals and oxidizing agents like:
--fava beans
--anti-TB drugs
fructose intolerance
-deficiency of Aldolase B (converts F1P==>DHAP & Glyceraldehyde)
==>buildup of F1P
==>less free phosphate
==>inhibits glyceogenolysis and gluconeogenesis
essential fructosuria
-deficiency of Fructokinase

*benign, no Sx
*deficiency of Uridyl transferase (converts Galactose-1-P==>Glucose-1-P)
==>incr Galactitol (toxic)

Galactokinase deficiency
[Galactokinase converts Galactose==>Galactose-1-P]

-Galactitol (toxic)
et of lactase deficiency
loss of lactose (brush border enzyme)
aa: ketogenic only
Leu, Lys
aa: gluconeogenic only
Val, Thr, Met, His, Arg
aa: glucogenic/ketogenic
Phe, Trp, Ile
which aa are req during periods of growth?
Arg & His (goljan: body builders take these)
acidic aa?
[acidic=negative at body pH)

Glu, Asp

mneum: "This Glu ("glue"=drug slang name for the drug "acid") takes like Asp ("ass")"
basic aa
Arg > Lys > His

(His has no charge at body pH)
histones have lots of which aa?
Arg & Lys

(these are basic aa [positive charge] and histones must be positive in order to bind (-) DNA in beads-on-a-string formation]
can be heredtiary (lack enzyme for urea cycle) or acquired (liver dz [urea cycle occurs in liver])

-incr NH3 uses up alpha-ketoglutarate
==>not enough alpha-ketoglutarate to run TCA cycle

Tx: Arginine (part of urea cycle)

Sx of ammonia intoxication:
-cerebral edema
-slurred speech
-blurred vision

(looks like you're drunk)
what does melanin derive from?
DOPA (not dopamine)==>melanin
what does thyroxine derive from?
what does dopamine derive from
what does NE derive from
what does Epi derive from
what does niacin derice from
what does serotonin derive from
what does heme dervice from
what does porphyrin derive from
what aa does creatine derive from

makes sense; body builders take both Arg and creatine to bulk up
what aa does urea derive from
what aa does NO derive from
what aa does GABA derive from
glutamate==>GABA (*req B6 cofactor for glutamate decarboxylase)
*AR (auto rec) dz
*deficiency of phenylalanine hydroxylase (which converts phenylalanine==>tyrosine)
==>deficient tyrosine & phenylalanine builds up

musty body odor,

-incr tyrosine intake
-decr phenylalanine (aspartame)
AKA ochronosis

*deficient homogentisic acid oxidase (degrades tyrosine)

Sx: black urine, arthralgias
(benign dz)
*Congenital dz d/t failure of neural crest migration

*d/t deficiency of either:

1. tyrosinase (so cannot make melanin from tyrosine)

2. tyrosine transporters so cannot make melanin from tyrosine)

-skin cancer (d/t low melanin)
*see First Aid p. 103 for pathway w/enzymes:

homocysteine==>cystathione (via cystathione synthase, B6=cofactor)

homocysteine==>methionine (via methionine synthase, B12=cofactor, which converts CH3-THF==>THF)

3 et (all AR) for homocysteinuria:

1. deficient cystathione synthase
==>Tx: decr homocysteine in diet, incr cysteine in diet

2. decr affinity of cystathione synthase for Vit B6
==>Tx: incr Vit B6 in diet

3. deficient methionine synthase

*no matter the cause, cysteine becomes essential aa (must eat it!)

atherosclerosis (MI, stroke)
tallm (~Marfan's)
lens subluxation (downward and inward) (~Marfan's)
defective transporter for "COLA" (Cystine, Ornithine, Lysine, Arginine)
==>incr Cystine in urine
==>Cystine kidney stones

Tx: acetozolamide (alkanizes urine so you don't form stones)
maple syrup dz
-d/t deficient alpha-ketoacid dehydrogenase
-cannot metabolize branched chain aa (Isoleucine, Leucine, Valine; "I" "L"ove "V"ermont maple syrup)
==>incr alpha-ketoacids in blood, esp. leucine

-MR, death within a year
-urine smells like maple syrup d/t keto-acids in urine (like how pts in DKA have sweet-smelling breathe)

Tx: decr consumption of Isoleucine, leucine, & valine
protein synthesis
1. Initiation:
-Initiation Factors bind 30S ribosome to tRNA

2. Elongation:
i. tRNA enters A site

ii. peptidotransferase moves tRNA from A to P site

iii. growing peptide "E"xits ribosome from "E" site

-"A" site: incoming "A"minoacyl tRNA
-"P" site: for growing "P"eptide
-"E" site: protein "E"xists ribosome

* "A"TP=tRNA Activation (charging)
* "G"TP=tRNA "G"ripping & "G"oing places (translocation)

3. Termination: ribosome releases completed protein and then dissociates
posttranslational modifications
1. Trimming:
trim N or C group to convert zymogen==>active protein

2. Covalent alterations:
-Phosphorylation (add P)
-Glycosylation (add sugar)
-Hydroxylation (add OH)

3. Degradation:
tag protein with ubiquitin==>degradation
permanent cells
-remain in Go
-can only regenerate from stem cells

-cardiac muscle
stable cells
-can go from Go==>G1 if stimulated

e.g. hepatocytes, leukocytes
labile cells
-never enter Go
-short G1
-divide rapidly

hair follicles
gut epithelium
site of:
*synthesis of proteins that will be exported/secreted

*addition of N-linked oligosaccharides to many proteins

-Nissl bodies (neurons)- synthesize enzymes (eg ChAT) & peptide neurotransmitters

-sites with lots RER:
*mucus-secreting goblet cells of sm int
*Ig-secreting plasma cells (b/c Ig=protein)
site for:
-steroid synthesis ["S"ER for "S"teroid syntehsis)
-detox drugs and poisons

*sites w/lots SER:
-hepatocytes (do detox)
-steroid-producing cells of adrenal cortex
*directs proteins from ER to
==>plasma memb
==>secretory vesicles

*adds mannose-6-P residues to lysosomal proteins to target them to lysosome

(failure of this==>I cell dz)

*adds N-oligosaccharide residue to asparagine

*adds O-oligosaccharide residue to serine & threonine

*assembles proteoglycans

*sulfation of sugars in proteoglycans & of selected tyrosine on proteins
I cell dz
failure of Golgi to add mannose-6-P residues to lysosomal proteins
==>lysosomal proteins not targeted to lysosome and are secreted outside the cell (bad!)

*often fatal in childhood
-high plasma levels of lysosomal enzymes
-coarse facial features
-clouded corneas
-restricted joint mvmts
vesicular trafficking proteins
*COPI: retrograde; Golgi==>ER

*COPII: antegrade; ER==>golgi

*Clathrin (~"Katherine")
-receptor-mediated endocytosis
-carries products from lysosomes, plasma memb==>endosomes
-what drugs act on microtubules
-form mitotic spindle
-form flagella, cilia (cilia has 9 + 2 arrangement of microtubules)

-cylindrical structure composed of 13 polymerized dimers of alpha and beta-tubulin arranged in a circle
-24 nm diameter

Drugs that act on microtubules
*Mebendazole/thiabendazole (anti-helminth)
*Griseofulvin (antifungal)
*Taxol (anti-breast cancer)
*Vincristine, vinblastine (anti-cancer)
*Colchicine (anti-gout)

Note: the last 3 Rx all are M-phase specific (anti-mitotic) that inhibit microtubule assembly.
9+2 arrangement of microtubules

(9 doublets of microtubules on periphery, 2 single microtubules in center)

Cilia moves via 2 motor units:
*Kinesin=anterograde mvmt
*Dynein=retrograde mvmt

*ATPase that links peripheral 9 doublets
==>causes doublets to slide
==>bend cilium (cilia; dynein is part of the cilia)
==>allows retrograde mvmt

Defective cilia (d/t defective dynein arm)==>
*male/female infertility (sperm have no cilia)
*recurrent sinusitis (no cilia in bronchioles to sweep away pathogens)
Kartagener's syndrome
*defective cilia d/t defective dynein arm

*male/female infertility (sperm have no cilia)
*recurrent sinusitis (no cilia in bronchioles to sweep away pathogens)
*bronchiectasis (=dilation of bronchi or bronchioles d/t constant inflammatory dz or obstruction)
AKA Lecithin

~Esterifies cholesterol (LCAT=Lecithin-Cholesterol Acetyltransferase)

~Major component of:
*RBC membranes
*surfactant (DPCC=DiPalmitoyl Phosphatidylcholine)
AKA Phosphatidylcholine

~Esterifies cholesterol
(LCAT=Lecithin-Cholesterol Acyltransferase)

~Major component of
*RBC membrane
*surfactant (DPPC=DiPalmitoyl Phosphatidylcholine)
what increases melting temperature of cells
if plasma membrane has lots of cholesterol or long saturated fatty acid content
Na-K ATPase
-what drugs affect
-ATP site is on cytoplasmic (intracellular) side
==>phosphorylates the pump as Na leaves and K enters

Drugs that inhibit Na-K pump:
-ouabain: block K sit
-cardiac glycosides (digoxin, digitoxin): block ATPase==>cell depolarizes==>incr cardiac dp/dt
Type 1=bONE ("1"="ONE")
Type 2=cartilage (carTWOlage)
Type 3=reticulin, located in:
-granulation tissue
-fetal tissue

Type 4=BM ("4"=fall to the "floor" (BM))
Ehler-Danlos syndrome
faulty collagen synthesis==>

1. Hyperextensible skin
2. Hypermobile joints
3. Easy bruising (b/c Type 3 collagen is most often affected==>bv instability==>easy bruising)
osteogenesis imperfecta
*abnl collagen, usu Type 1 (bone)
*can be confused with child abuse

1. multiple fractures (b/c abnl Type 1 collagen (bone))
2. blue sclera (no collagen)
3. hearing loss (abnl middle ear bones)
4. poor dentition (no collagen)
vimentin stains what?
connective tissue
desmin stains what?
muscle (mneum: muscular man named "Desmond")
cytokeratin stains what?
GFAP stains what?
[GFAP=Glial fibrillary acid proteins]

neurofilaments stain what?
elastin is rich in which aa's?
proline and lysine
Marfan's is a defect in what?
fibrillin (major component of microfibrils, which form sheath around elastin of CT)
-inhibits elastase
-emphysema: xs elastase (thus, chest expanded) b/c cigarettes destroy antitrypsin
which metabolism rxns occur in mitochondria?
Mitochondria only:
-AcCoA synthesis
-Beta oxidation (fatty acid oxidation)

Both mito & cytosol:
-urea cycle
-heme synthesis
which metabolism rxns occur in cytosol?
-FA synthesis
-HMP shunt (PPP)
-protein synthesis (RER)
-steroid synthesis (SER)

Both mito & cytosol:
-urea cycle
-heme synthesis
which metabolism rxns occur in boht mito & cytosol?
-urea cycle
-heme synthesis
how many ATP's produced in aerobic metabolism?
-38 ATP via malate shuttle
-36 ATP via G3P shuttle
respiratory burst
oxygen (via NADPH oxidase)
==>superoxide (via superoxide dismutase)
(via myeloperoxidase)==>HOCl=bleach
(via catalase/glutathione peroxidase: this converts reduced glutathione==>oxidized)
==>(via glutathione reductse) regenerate reduced gluthatione: this converts NADPH (from HMP shunt)==>NADP+
==>(via G6PD) regenerate NADPH
cherry red spot on macula
Tay Sachs,
Niemann Pick

(both assoc w/Ashkenazi Jews, Eastern Europeans)
regulation of Glycogen synthase
[fed state (+) Glycogen synthase]

Liver & SkM:

Liver only:
regulation of Glycogen phosphorylase
[Glycogen phosphorylase converts glycogen==>glucose;
thus, fasting state (+) Glycogen phosphorylase]

Liver & SkM:

Liver only:

Muscle only:
+AMP (sign of low Energy)
GLUT receptors

GLUT2 (bidirectional):
B islet cells

GLUT4 (insulin-responsive):
what doesn't need insulin for glucose uptake


(the last 3 are complications of DM)
-where stored
Glycogen stored in:

1. SkM: quickly converts glycogen==>glucose to use during exercise

2. Liver: uses glycogen to maintain nl BG levels
glycogen metabolism
Forming glycogen:
1. G6P <==> G1P
2. G1P==>UDP-glucose (enzyme= Glycogen synthase)
3. Branching enzyme (forms glycogen's alpha-1,6 branches)

Lyse glycogen==>glucose:
1. Debranching enzyme (lyses glycogen's alpha-1,6 linkages)
2. Glycogen phosphorylase
glycogen metabolism
Forming glycogen:
1. G6P <==> G1P
2. G1P==>UDP-glucose (enzyme= Glycogen synthase)
3. Branching enzyme (forms glycogen's alpha-1,6 branches)

Lyse glycogen==>glucose:
1. Debranching enzyme (lyses glycogen's alpha-1,6 linkages)
2. Glycogen phosphorylase
lysosomal storage dz with:

-peripheral neuropathy (hands/feet)
-CV dz
-renal dz

*name of dz?
*inheritance pattern
*defective enzyme
*build-up of what?

X-rec (ALL other lysosomal storage dz's are AR)

-defective enzyme=alpha-galactosidase

-build-up of Ceramide Trihexose
lysosomal storage dz with:
-progressive neurodegeneration
-cherry red spot on macula
-lysozymes w/onion skin

*name of dz?
*inheritance pattern
*defective enzyme
*build-up of what?
Tay-Sachs (Eastern Europeans)
*defective enzyme=Hexosimaminidase A
*build up of GM2
lysosomal storage dz with:
-progressive neurodegeneration
-cherry red spot on macula

*name of dz?
*inheritance pattern
*defective enzyme
*build-up of what?
*defective enzyme=sphingomyelinase
*buildup of sphingomyelin
lysosomal storage dz with:
-aseptic necrosis of femur
-bone crisis

*name of dz?
*inheritance pattern
*defective enzyme
*build-up of what?
Gaucher's dz (*MC lysosomal storage dz)

[macrophages="Gaucher's bodies"]

*defective enzyme=Glucocerebrosidase
*buildup of glucocerebroside
lysosomal storage dz with:
-peripheral neuropathy
-optic atrophy

*name of dz?
*inheritance pattern
*defective enzyme
*build-up of what?
*defective enzyme=Beta-galactosidase
*buildup of galactocerebroside
lysosomal storage dz with:
-ataxia & dementia (d/t central and peripheral demyelination)

*name of dz?
*inheritance pattern
*defective enzyme
*build-up of what?
Metachromatic Leukodystrophy
*defective enzyme=arylSULFAtase
*buildup of SULFAtides
ketone bodies
in DKA and starvation, liver converts FA & aa==>B-hydroxybutyrate (more) & acetoacetate
essential FA's
-linoleic and linolenic acids
-if linoleic acid==>arachidonic acid becomes essential
transfers cholesterol from periphery==>liver
transfers cholesterol from liver==>periphery
describe the major apolipoproteins
*A1: "A"ctivates LCAT (Lecithin-Cholesterol Acetyl Transferase, which esterifies cholesterol)

*B48: mediates chylomicron secretion

binds LDL receptor (on liver)
mediates VLDL secretion

*CII: Co-factor ("C"o-factor) for lipoprotein lipase

E: mediates "E"xtra (remnant)uptake
Chylomicron has which apolipoproteins?
*A1=activates LCAT (Lecithin-Cholesterol Acetyl Transferase, which esterifies cholesterol)

*B48 (mediates chylomicron secretion)

CII: cofactor for lipoprotein lipase

E: mediates "E"xtra (remnant) uptake
Chylomicron remnant has which apolipoproteins?
*B48 (mediates chylomicron secretion)
*E (mediates "E"xtra (remnant) uptake)
VLDL has which apolipoproteins?
*B100 (binds LDL receptor (on liver))
*CII (cofactor for lipoprotein lipase)
*E: mediates "E"xtra (remnant) uptake
IDL has which apolipoproteins?
*B100 (binds LDL receptor (on liver))

*E: mediates "E"xtra (remnant) uptake
LDL has which apolipoproteins?
*B100 (binds LDL receptor, mediates VLDL secretion)
excess of VLDL can cause what?
HDL has which apolipoproteins?
pink urine
psychological disturbances
which form of Hg does CO2 prefer?
prefers T (taut) form
[T is to the right==>thus, lower affinity for O2 (more O2 delivery to tissues) & thus higher affinity for CO2)
what shifts oxygen dissociation curve to the right?
incr H+ (acidic)
incr CO2 (acidic)
incr Cl
incr temp (fever)
incr 2,3-BPG
variants of Hg
both of these cause tissue hypoxia d/t decr O2 sat & decr O2 content:

1. Methemoglobin:
-oxidized form of iron (Fe3+, vs Fe2+), which cannot bind O2
but has incr affinity for CN-

(menum: Treat toxic levels of METHemoglobin w/METHylene blue)

2. Carboxyhemoglobin
-form of Hg bound to CO instead of O2
Tx cyanide poisoning
Give nitrites, these oxidize hemoglobin (Fe2+) to methemoglobin (Fe3+), which has high affinity for cyanide, so it binds the cyanide and reduces toxicity
Northern, Southern, and Western blots
Northern=RNA (w/DNA probe)
Southern=DNA (w/DNA probe)
Flourescence in situ hybridization (FISH):

fluorescent probe binds to specific gene of interest
==>specific localization of genes and direct visualization of anomalies
incomplete penetrance
not everyone with the mutant genotype expresses the mutant phenotype
-at a single locus, only one allele is active, the other is inactive. Deletion of active allele==>dz

-differences in phenotype depend on whether the mutation is of maternal or paternal origin

1. angel"M"an's syndrome ("M"=Maternal)
-deletion of normally active maternal allele
*inappropriate laughter ("happy angel")

2. Prader-willi syndrome

-deletion of normally active paternal allele
severity of dz worsens or dz onset occurs earlier in subsequent generations, i.e. Huntington's
loss of heterozygosity
if pt inherits or develops a mutation in tumor suppressor gene, the complementary allele must be mutated/deleted in order for cancer to develop

*this is NOT true of oncogenes
dominant negative mutation
-mutation has DOMINANT effect
-in heterozygote, the mutated allele prevents other nl allele from functioning properly
linkage disequilibrium
tendency for certain alleles at 2 linked loci to occur together more frequently than expected by chance
cells in body have diff genetic makeup,

e.g. lyonization--random X inactivation in females
locus heterogeneity:
mutations at diff loci can produce same phenotype

e.g. albinism
assumptions for Hardy-Weinberg equil
1. no mutation
2. no natural selection
3. no migration
4. random mating
inheritance pattern if no father-son transmission
x rec
inheritance pattern if ALL daughters of affected father have dz?

x-linked dominant

e.g. Hypophosphatemic rickets
inheritance pattern if transmitted only thru mother?

mitochondrial inheritance

e.g. Leber's hereditary optic neuropathy

e.g. mitochondrial myopathies
adult polycystic kidney dz
-inheritance pattern?
-assoc with what other abnl?
-AD inheritance
(juvenile form is recessive)

-massive enlargement of both kidneys d/t many cysts
-mutated APKD1 gene (chrom 16; mneum: "You're an ADULT when you're 16 b/c you can drive")

Assoc w/:
-polcystic liver dz
-mitral valve prolapse
familial hypercholesterolemia
-inheritance pattern?
=Hyperlipidemia Type IIa


-defective/absent LDL receptor
==>incr LDL & chol

-chol ~ 300

Homozygotes (very rare):
-chol > 700 !
-severe atherosclerosis at young age
-tendon xanthomas (esp Achilles tendon)
-MI before 20 y/o
-inheritance pattern?
-auto dom

-mutated fibrillin gene (ECM)==>CT abnl

A. Skeletal abnl:
tall w/long extremities (arachnodactyly)
hyperextensible fingers and joints
pectus excavatum

B. CV abnl:
cystic medial necrosis of Ao
==>Ao insufficiency
==>Ao dissection

C. Optic:
subluxation of lenses
Neurofibromatosis--Type I
-inheritance pattern?
AKA von Recklinghausen syndrome

-AD inheritance
-on long arm of Chrom 17 (mneum: von Recklinghausen has 17 letters)

-cafe au lait spots
-Sk abnl (scoliosis)

Incr tumor susceptibility:
-neural tumors
-optic gliomas
Neurofibromatosis--Type II
-inheritance pattern?
-AD inheritance
-NF2 gene on chrom 22 (mneum: Type "2"= "22")

-bilateral acoustic neuromas
-juvenile cataracts
tuberous sclerosis
-inheritance pattern?
-AD inheritance
-incomplete penetrance

-facial lesions (adenoma sebaceum)
-hypopigmented "ash leaf" spots on skin
-cardiac rhabdomyomas

Hamartomas in:
*Brain: astrocyte proliferations

(tuberous sclerosis, neurorfibromatosis, & Sturge-Weber all have abnl neuroectoderm & are AD.

Tuberous sclerosis sounds like Sturge-Weber. Sturge-Weber has port-wine nevus on face w/ipsilateral A-V malformations in the meninges beneath)
Von Hippel-Lindau dz
-inheritance pattern?
-AD inheritance

-deletion of tumor suppressor Von Hippel Lindau on Chrom 3p
(mneum: Von Hippel-Lindau = "3" words for Chrom "3")

-hemangioblastomas of retina/cerebellum/medulla
Huntington's dz
-inheritance pattern?
-AD inheritance
-triplet repeat d/o: incr CAG repests==>CAG repeats code for Glutamine==>hyperkinetic
-gene on chrom 4 (mneum: HUNTING 4 food)
-anticipation (dz severity/onset worsens in subsequent generations)

-progressive dementia
-choreiform mvmts
-caudate atrophy
Familial Adenomatous Polyposis
-inheritance pattern?
-AD inheritance
-at adolescence, colon becomes covered in adenomatous (gland-like) polyps
-must resect colon or else cancer develops

-deletion on chrom 5 (mneum: 5 letters in "polyp")
hereditary spherocytosis
-inheritance pattern?
-AD inheritance

-sphere-shaped RBC's==>destroyed in spleen
==>hemolytic anemia
-inc MCHC

-Tx: splenectomy is curative
inheritance pattern:
inheritance pattern:
inheritance pattern:
alpha-1-antitrypsin deficiency
inheritance pattern:
inheritance pattern:
inheritance pattern:
sickle cell anemia
inheritance pattern:
glycogen storage dz's
inheritance pattern:

mucopolysaccharidoses (the lysosomal storage dz's that are not sphingolipidoses)

Hurler's: AR

Hunters: XR
(Hunters are aggressive (Sx: aggressive behavior, vs. Hurler's) & must have good eyes (no corneal clouding, vs. Hurler's) to aim for the "X" (XR).
inheritance pattern:
AR (except Fabry's: X-rec)
inheritance pattern:
infant polycystic kidney dz
inheritance pattern:
-inheritance pattern
-AR inheritance
-deletion of Phe 508 on CFTR gene (chrom 7)
==>mutant CFTR degrades in Golgi before reaching CM
==>incr Na+ reabs & decr Cl- secretion into duct lumens
(term bronchioles, panc ducts, liver)
==>thick, dehydrated mucus
==>obstructed ducts in

*LUNG==>recurrent pulmonary infxns:
*SA and Pseudomonas infxns
*chronic bronchitis

GI (incl liver, pancreas)==>malabsorption of Vit ADEK

[CFTR usually absorbs Cl from sweat & secretes Cl into lung, liver, pancreas]

-infertility in males d/t absent vas deferens

*Tx: N-acetylcysteine (to loosen mucus plugs)
*Dx: sweat tests reveals high Cl- ions in sweat
inheritance pattern:
Bruton's agammaglobulinemia
inheritance pattern:
X-rec (descr on FA p. 195 in immuno section)
inheritance pattern:
Fragile X
inheritance pattern:
Ocular albinism
inheritance pattern:
Lesch-Nyhan syndrome
inheritance pattern:
Duchenne's muscular dystrophy
inheritance pattern:
Hemophilia A
X-rec (for both Hemophilia A & B)
inheritance pattern:
Hemophilia B
X-rec (for both Hemophilia A & B)
inheritance pattern:
Fabry's dz

(lysosomal--spingolipidosis dz)
inheritance pattern:
Hunter's syndrome

(lysosomal storage dz-- mucopolysaccharidosis dz)
Duchenne's muscular dystrophy
-inheritance pattern
-Duchenne's= "D"eleted "D"ystrophin (d/t frameshift mutation)
==>accelerated muscle breakdown
-onset before 5 y/o
-weakness begins in pelvic girdle muscles and moves superiorly
-Gower's sign indicates proximal lower limb weakness

*Dx w/incr CPK & muscle biopsy
Becker's muscular dystrophy
MUTATED dystrophin gene (vs. DELETED dystrophin gene in Duchenne's muscular dystrophy)

*Dx w/incr CPK & muscle biopsy
Fragile X syndrome
-inheritance pattern
-triple repeat d/o (CGG)n on Chrom X (thus X-rec) in promotor region of FMR1 gene
==>altered methylation & expression of FMR1 gene

-genetic anticipation (more severe/earlier onset in subseuqent generations)

-2nd MCC MR (MCC=Down's)

-e"X"tra-large testes, jaw, ears
#1 and #2 causes of MR
#2=Fragile X
Trinucleotide repeat d/o
mneum: "TRY (TRInucleotide) HUNTING for MY FRIED eggs (X)":

MYotonic dystrophy
FRIEDreich's ataxia
fragile "X"

*anticipation (more severe and earlier onset in subsequent generations)
decr alpha-FP
decr alpha-FP
incr beta-hCG
incr nuchal translucency
MC chromosomal d/o
Down's syndrome
-serum levels
-Trisomy 21
-MC chromosomal d/o

Serum levels:
decr alpha-FP
incr beta-hCG
incr nuchal translucency

-flat facial profile
-prominent epicanthal folds
-simian crease
-duodenal atresia
-cardiac abnl: septum primum-type ASD d/t endocardial cushion defects
-Alz Dz (>35 y/o)

95% d/t maternal non-disjxn during meiosis
4% d/t Robertsonian translocation
1% d/t Down mosaicism (no maternal association)
Edward's syndrome
-Trisomy 18 ("E"dwards="E"lection Age)

-severe MR
-rocker bottom feet
-low-set ears
-prominent occiput
-micrognathia (small jaw)
-congenital heart dz
-clenched hands

Prognosis: death before 1 y/o
Patau's syndrome
-Trisomy 13 ("P"atau's="P"uberty age)

-severe MR
-cleft lip/palate
-abnl forebrain structures
-congenital heart dz

Prognosis: death before 1 y/o
Autosomal trisomies
-Down's/Trisomy 21 ("D"="D"rinking age=21)

-Edward's/Trisomy 18 ("E"dward's="E"lection age=18)

-Patau's/Trisomy 13 ("P"atau's=Trisomy 13)
-congenital deletion of chrom 5p (46XX,5p- or 46XY,5p-)
-high pitched crying/mewing
-severe MR
-epicanthal folds
-cardiac abnl
22q11 syndromes
-microdeletion at chrom 22q11

mneum: "CATCH-22"

Cleft palate
Abnl facies
Thymic aplasia==>deficient T cells
Cardiac defects
Hypocalcemia (secondary to parathyroid aplasia)

Variable presentation as:
-DiGeorge syndrome (cardiac, thymic, or parathyroid defects)
-Velocardiofacial syndrome (cardiac, facial, palate defects)
MCC congenital malformations in US
Fetal Alcohol syndrome
Fetal Alcohol Syndrome
-MCC congenital malformations in US
-d/t excessive alcohol intake during wks 3-8 of gestation
-mechanism=inhibit cell migration

-facial abnl
-limb dislocation
-heart and lung fistulas