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433 Cards in this Set
- Front
- Back
|
how many histone units in a nucleosome
|
8
|
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effects on gene transcription
|
methylation decreases, acetylation increases
|
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thymine vs cytocine vs uracil
|
thymine has 2 keto groups and a methyl, uracil is missing that keto group, and deamination of cytosine makes uracil
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what components needed to make up purine?
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co2, thf, glycine, glutamine, asp
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what components needed to make up pyridimine?
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carbamoyl phosphate (=co2+gly), asp
|
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draw out the synthesis pathway for purine/pyridimine synthesis
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p68
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what is the rate limiting step for purine synthesis
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PRPP amidotransferase
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what is the rate limiting step for pyridimine synthesis
|
CPSII
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what drug can inhibit IMP dehydrogenase
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mycophenylate mofetil, ribavirin
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what regulates CPSII
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ATP stimulates, UTP inhibits
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what drug can inhibit thymidilate synthesis
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5fu
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what drug can inhibit ribonucleotide reductase
|
hydroxyurea
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regulation of ribonucleotide reductase
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ATP stimulates, dATP inhibits
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which diseases will have increased orotic acid in urine
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orotic aciduria, ornithine transcarbamoylase deficiency
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is hyperammonia seen in orotic acidura
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no
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hematological abnormality seen in orotic aciduria
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megaloblastic anemia irreversible w/ b12, folate
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how can DNA turnover during chemotherapy be measured
|
pyridimines are broken down to beta amino acids, co2, and ammonia
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draw out the purine salvage/degradation pathway
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p69
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why might uric acid be increased in the urine
|
increased production (hemolytic cell death - eg psoriasis, leukemia), or decreased excretion (aspirin, alcohol, diuretic, kidney dz)
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why does adenosine deaminase deficiency cause scid
|
backs up the atp/dATP degradation pathway, which inhibits ribonucleotide reductase
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what purine salvage deficit can result in chorea
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lesch nyhan
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in what disease do you see antibodies against ssbp's
|
sjrogrens
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do eukaryotes have a primase enzyme
|
no
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|
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what drugs inhibit dna gyrase
|
fluoroquinolones
|
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which dna replicase enzymes require atp
|
helicase
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which dna polymerases have 3-5 exonuclease activity
|
dna pol 3
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which dna polymerases have 5-3 exonuclease activity
|
dna pol 1
|
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which dna polymerase degrades rna primer
|
dna pol 1
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which eukaryotic dna polymerase synthesiszes lagging strand and primer
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alpha
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which eukaryotic dna polymerases repair dna
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beta and epsilon
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which eukaryotic dna polymerases synthesize mitochondrial dna
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gamma
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what does lac operon code for
|
beta galactosidase
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what region of dna does repressor bind to
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operator
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what region of dna does CAP bind to
|
promotor
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what disease has mutated nucleotide excision repair
|
xeroderma pigmentosum
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nucleotide excision repair vs base excision repair
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base excision removes damaged base first (glycosylase), then endonuclease step removes bases for both. Nucleotide excision repair usually involves longer stretches of nucleotides
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what dna repair is dysfunctional in HNPCC
|
mismatch reapir
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what disease is notable for microsatellite instabilityq
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HNPCC
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how can double strand breaks be repaired
|
nonhomologous end joining
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diseases that have defect in dna repair
|
xeroderma pigmentosum, wiscott aldrich, bloom, ataxia telangiectasia, werner's (fast aging), fanconi
|
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start codon for eukaryotes vs prokaryotes
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methionine vs fmet
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what inhibits rna pol 2
|
alpha amantin
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what segments of dna to repressors bind in eukaryotes
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silencer
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what structural motifs bind dna
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zinc finger, leucine zipper, helix turn helix
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what inhibits elongation of rna transcript
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actinomycin D
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where is hnRNA likely to be seen
|
nucleus, before processing
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what is the polyadenylation signal
|
aauaaa
|
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what is the template for polyA polymerase
|
there is non
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in what disease is antibodies made to snRNPs
|
lupus
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what is located at 3' end of tRNA
|
cca
|
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which tRNA enzyme requires atp
|
aminoacyl trna synthetase
|
|
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what are nucleotides seen in trna
|
dihydrouracil, acetylcytosine, pseudouridine, thymine
|
|
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where does tetracycline act on protein synthesis
|
binds 30s and prevents trna binding
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what is responsible for accuracy of amino acid selection
|
aminoacyl trna synthetase
|
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which part of protein synthesis requires gtp
|
initiation (i.e. formation of complex) requires gtp hydrolysis, also needed for translocation
|
|
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which part of protein synthesis requires atp
|
charging of trna by aminoacyl trna
|
|
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what catalyzes peptide bond formation
|
ribosomal rRNA (i.e. peptidyltransferase)
|
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what is needed for protein assembly complex
|
eIF (i.e. initiation factor), 40S, initiator met
|
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what signals termination in protein synthesis
|
stop codon recognized by release factor
|
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which subunit in prokaryotes contains peptidyl transferase activity
|
23s, which forms 50s
|
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components of eukaryote ribosome vs prokaryote
|
40+60->80, 30+50->70
|
|
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what are the different sites in ribosomes
|
A (incoming), P (peptidyl), E (exiting)
|
|
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how do aminoglycosides inhibit the ribosome
|
inhibit formation of initiation complex and prevent misreading
|
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how do chloramphenicol inhibit the ribosome
|
inhibit 50s peptidyltransferase
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which part of ribosome binds the shine dalgarno sequence
|
16s, which forms 30s
|
|
|
which antibiotics bind translocation
|
macrolide, clinda
|
|
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prokaryotic vs eukaryotic translation initiation
|
prokaryotic: shine dalgarno, fmet, 3 initiation factors; eukaryotic: binding to 5' cap, scanning for AUG, Met, many initiation factors
|
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where does ubiquitin mediated degradation occur
|
cytoplasm in proteosomes, not in lysosome
|
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which one is constitutive: cdk and cyclin
|
cdks
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describe which phase these act in: cyclin A, CDK2, cyclin D, CDK4
|
A, CDK2 = G2. D, CDK4 = G1.
|
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p53, rb regulate what checkpoint
|
G1-S checkpoint
|
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What chromosome is p53 on
|
chromosme 17
|
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which cells exxist primarily in G0
|
hepatocytes, lymphocytes
|
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which cells do not exist in G0
|
bm, gut, skin, hair
|
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where does n-linkage of oligosaccharide occur
|
er
|
|
|
what type of organelle is a nissl body
|
rer
|
|
|
what proteins are likely to be seen in zona occludens
|
claudin, occludin, actin, e-cadherin
|
|
|
what proteins are likely to be seen in zona adherens
|
cadherin, actin
|
|
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what type of proteins likely to be seen in macula adherens
|
intermediate filaments, desmoplakin, cadherin (this is a desmosome)
|
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what are nuclear localization signals rich in?
|
lys, arg, pro
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what proteins are increased with stress
|
hsps, chaperones
|
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COP1 vs COP2
|
used in golgi transport. Cop1 = retrograde, to er. Cop2 = anterograde, to golgi from er
|
|
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what performs o glysylation to proteins
|
golgi
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what organelle adds mannose 6p to proteins
|
golgi
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where does sulfation of sugars in proteoglycans occur
|
golgi
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|
sulfation of tyrosine residues where does it occur
|
golgi
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|
|
cause of clouded corneas
|
hurler, I cell dz
|
|
|
high plasma levels of lysosomal enzymes
|
I cell dz
|
|
|
features of I cell dz
|
course facial features, clouded cornea, joint issue
|
|
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microtubules bind what nucleotide
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2 gtp for each dimer
|
|
|
drugs that act on microtubules
|
bendazole, griseofulvin, vincas, taxels, colchicine
|
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dynein vs kinesin -- how do they transport
|
kinesin goes anterograde
|
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defect in kartageners
|
dyenein
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what dz associated with situs inversus
|
kartageners
|
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major components of plasma membrane
|
cholsterol, phospholipid
|
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effect of high cholesterol on plasma membrane? Long sat fatty acid
|
increase melting temp, decrease fluidity
|
|
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what type of cancer would stain for each of these: vimentin, desmin, cytokeratin,
|
sarcoma, rhabdomyosarcoma, carcinoma
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describe what each of these stains: vimentin, desmin, cytokeratin, gfap
|
connective tissue, muscle, epithelial, neuroglia
|
|
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what is progeria
|
rapid aging (werner's is a type of this)
|
|
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what type of genes are mutated in progeria and rapid aging
|
nuclear laminins
|
|
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mechanism of ouabain
|
disabling na/k atpase by binding k site (kind of like digoxin)
|
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|
know the different locations of different types of collagen
|
p79
|
|
|
another name for type 3 collagen
|
reticulin
|
|
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effect of aging on collagen
|
decreased amount, same quality of cross linking
|
|
|
most prevalent amino acid in collagen
|
glycine (proline and lysine also very common)
|
|
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where does hydroxylation and glycosylation of collagen take place
|
rer
|
|
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what must occur in the ecm before cross linking for collagen
|
cleavage of terminal procollagen
|
|
|
what intracellular messaging does TKRs use
|
ip3, ras
|
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|
most common collagen affected in ehlers danlos
|
3
|
|
|
inheritance of osteogenesis imperfecta
|
ad
|
|
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what collagen is defective in osteogenesis imperfecta
|
1
|
|
|
sx of osteogenesis imperfecta
|
HEARING LOSS, DENTAL, fractures during birth, blue sclera
|
|
|
what type of osteogenesis imperfecta is prenatally fatal
|
type 2
|
|
|
defective collagen in alports sydnrome
|
type 4 collagen
|
|
|
inheritance of alports
|
xr
|
|
|
predominant structural protein in ligamentum flavum
|
elastin
|
|
|
predominant aa's in elastin
|
proline and glycine
|
|
|
marfanoid syndromes
|
men2b, homocysteinuria
|
|
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where is the anode in pcr
|
positive end, where the dna travels
|
|
|
cre lox system
|
antibiotic controlled promoter
|
|
|
mechanism of RNAi
|
knockdown gene by giving dna complementary to mrna
|
|
|
dominant negative mutation
|
heterozygote produces all nonfunctional proteins due to effect of mutation on the nonmutated (eg tetramers)
|
|
|
what chromosome is a disease that demonstrates imprinting located at
|
chromosome 15
|
|
|
prader willi vs angelman
|
prader willi = paternal. Fat, slow, stupid, and hypogonad. Angelman = mr, happy puppet, in appropriate laugh
|
|
|
name a disease that is xd
|
hypophosphatemic rickets (i.e. vit d resistant rickets). Increased phosphate wasting at pct
|
|
|
name a disease that is spread through mtDNA
|
mitochondrial myopathies, leber's hereditary optic neuropathy
|
|
|
sx of mtDNA related mitrochondiral myopathy
|
ragged skeletal mm, lactic acidosis, neuromuscular lesion
|
|
|
sx of leber's hereditary optic neurpathy
|
acute loss of central visiosn
|
|
|
achondroplasia - risk factor
|
advanced paternal age
|
|
|
inheritance of achondrol plasia
|
ad
|
|
|
gene mutation in achondrolpaslia
|
fgfr3
|
|
|
adpkd -- which types are unilateral kidney involvement
|
all are bilateral
|
|
|
inheritance of fap
|
ad
|
|
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inheritance of type 2a familial hypercholesterol
|
ad
|
|
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which types of familial dyslipidemia doesn't have increased risk of atheroscleroris
|
i
|
|
|
which familial dysplipidemia has overproduction of vldl
|
iv
|
|
|
which familial dyslipid has highest chance of tendon xanthoma
|
2a
|
|
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which familial dyslipid is associated with hsm
|
i
|
|
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which familial dyslipid has defective lpl
|
i
|
|
|
which fmailla dyslipid has defective apoc2
|
i
|
|
|
inheritance of osler weber randu
|
ad
|
|
|
inheritance of hereditary spherocytosis
|
ad
|
|
|
cbc finding of hereditary spherocytosis
|
increased mchc, maybe anemia
|
|
|
where is huntingtin chromsome
|
chromsome 4
|
|
|
pathophysiology of repeats in huntington
|
improper methylation of genes
|
|
|
decreased levels of what neurotransmitters in huntingtons
|
gaba and ach
|
|
|
what disease is associated with cystic medial necrosis
|
marfan
|
|
|
which dz is assoc/ w/ pectus excavatum
|
marfan
|
|
|
which diseases is associted with arachnodactyly
|
marfan, ehler danlos, homocysteinuria
|
|
|
ineritance of marfan
|
ad
|
|
|
inheritance of men
|
ad
|
|
|
pigmented iris hamartomas
|
nf1
|
|
|
ineritance of nf1 and nf2
|
ad
|
|
|
often presents with skeletla disorders like scoliosis and neural tumors
|
nf1
|
|
|
what chromosome is nf1 on
|
17
|
|
|
what diseases have RETINAL hamartomas
|
tuberous sclerosis
|
|
|
dz assos w renal angiomyolipoma
|
tuberous sclerosis
|
|
|
ineritance of uberous sclerosis
|
ad
|
|
|
vhl dz associated with overexpression of what
|
hif
|
|
|
what chromosme is vhl on
|
3
|
|
|
inheritance of fvhl dz
|
ad
|
|
|
inheritance of hnpcc
|
ad
|
|
|
inheritance of peutz jeghers
|
ad
|
|
|
inheritance of herditary thromboses (p356)
|
ad
|
|
|
where is cftr gene located
|
7
|
|
|
what is most common deletion in cf
|
phe508
|
|
|
does cf cause infertility in males or females
|
males, missing vas deferens
|
|
|
in cf, where is cl secreted too much and too little
|
too much in sweat, too little eveyrwhere else
|
|
|
what tests can be used for cf
|
sweat test, decreased serum immunoreactive trypsin
|
|
|
will you see cftr in ER of cf patietns
|
yes, cuz it folds improperly there and is degraded
|
|
|
what level of cl ions gap is diagnostic for cf
|
>60 meq/l
|
|
|
name x linked dzz
|
p87
|
|
|
sx of duchennes
|
muscle weakness that begins in pelvic muscle and asends, fibrofatty repacement of calkf mm
|
|
|
beckers vs duchennes
|
becker is less severe, later onset
|
|
|
dx of musclar dystrophy
|
increased cpk and muscle biopsy
|
|
|
role of dystrophin gene
|
longest gene, helps to angchor muscle skeletal and cardiac muscle fibers
|
|
|
pathology of fragile x
|
hypermethylation leads to gene inactivation. Dna break is common, but not the cause of problem. Fmr1 gene is inactivated
|
|
|
mcc mr
|
down, fragile x
|
|
|
what dzz assoc/ w/ mvp
|
marfan, fragile x, ehler danlos
|
|
|
what dzz that demonstrates anticipation is assoc/w autism
|
fragile x
|
|
|
inheritance of myotonic dystrophy
|
ad
|
|
|
hypogonad + cataract + balding + trinucleotide dz
|
myotonic dystrophy
|
|
|
what are the repeats in these dzz: fragile x, huntington, mytonic dystrophy, freidrich
|
cgg, cag, ctg, gaa
|
|
|
which dz assoc/ w/ gap b/w 1st and 2nd toes
|
down
|
|
|
which dz assoc/ w/ risk of alzheimer
|
down
|
|
|
quad screen
|
test for down, decrease afp, increase hcg, decrease estriol, increase inhibin A
|
|
|
ultrasound finding in down syndrome
|
nuchal translucency
|
|
|
genetic defects in downs
|
trisomy due to nondisjunction, robertsonian translocation, mocacism
|
|
|
what dzz has increased risk of all and aml
|
downs
|
|
|
what chromosome is beta amyloid encoded on
|
21
|
|
|
what dzz assoc/ w/ brushfield spots
|
downs
|
|
|
which dzz assoc w/ polydactly
|
patau
|
|
|
which dz assoc/ w/ holoprosencephaly
|
patau
|
|
|
which dz assoc/ w/ cleft lip and palate, micropthalmia, microcephaly
|
patau
|
|
|
genetic defect in patau
|
13
|
|
|
findings on edwards
|
CLENCH HAND, SMALL JAW, rocker feet, low ears
|
|
|
what if all quad screen findings positive except decrease bhcg
|
edward
|
|
|
which chromosomes prone to undergo robertsonian
|
13-15, 21, 22
|
|
|
chromosme abnormality in cri du chat
|
5del
|
|
|
dzz assoc/ w/ microcephaly
|
patau (not down or edward), cru du chat, PKU
|
|
|
which dzz have epicanthal folds
|
down, cri du chat
|
|
|
which dzz assoc w/ congential heart dz
|
down, edward, patau, cri du chat, williams, 22q11, PKU
|
|
|
which dz assoc w/ increased sensitivty to calcium
|
williams syndrome
|
|
|
why are williams syndrome pts likely to have cardiovascular problems
|
deletion on chromosme 7 includes elastin
|
|
|
22q11 sx
|
catch-22
|
|
|
common sx of b-complex deficiencies
|
dermatitis, glossitis, diarrhea
|
|
|
absence of vitamin a can lead to what finding
|
keratosis
|
|
|
what dzz can vitamin A treat
|
measles, acne, aml
|
|
|
where is vit a usually found
|
liver and leafy veggies
|
|
|
what vitamin deficiency can cause keratomalacia (ie. Dry cornea)
|
vitamina a
|
|
|
what vitamin can actually increase risk of cancer in smokers
|
a
|
|
|
what can cause yellow skin w/o scleral icterus
|
vitamin a
|
|
|
what vitamin excess can cause headaches and papilledema
|
vitamin a
|
|
|
cofactors necessary for pyruvate dehydrogenase and alpha kg dehydrogenase
|
coa, fad, nad, thiamine, lipoid acid
|
|
|
what inhibits lipoic acid
|
arsenic
|
|
|
why is giving glucose to person w/ alcohol tox
|
eat up thiamine
|
|
|
what enzymes relies on thiamine as cofactor
|
pyruvate dehydrogenase, alphakg dehyrogenase, transketolase, branched chain aa dehydrogenase
|
|
|
what nucleus is damaged in wernicke korsakoff
|
medial dorsal nucleus of thalamus, mamillary n
|
|
|
what does medial dorsal nucleus (thalamus) do
|
communicates w/ prefrontal cortex, memory
|
|
|
what reactions does b2 participate in
|
oxidation and reduction
|
|
|
what vitamin deficiency can result in cheilosis and corneal vascularization
|
b2
|
|
|
what is b3 derived from
|
tryptophan
|
|
|
triad of pellagra
|
dermatitis, dementia, diarrhea
|
|
|
what drug can kill niacin levels
|
inh
|
|
|
what drug can kill b6 levels
|
inh
|
|
|
causes of pellagra
|
hartnup, malignant carcinoid, inh
|
|
|
what vitamin deficiency can cause alopecia and adrenal insufficiency
|
b5
|
|
|
6 things that b6 particpates in
|
transamination, decarboxylation (important for nts like dopamine and gaba), glycogen phosphorylase, cystathione synthesis, heme synthesis, niacin synthesis
|
|
|
what vitamin def can produce sideroblastic anemia
|
b6
|
|
|
what vitamin def can cause convulsions
|
b6 (can't make gaba)
|
|
|
what vitamin def can cause peripheral neuropathy
|
b6, b12,
|
|
|
importance of chromium
|
helps insulin
|
|
|
importance of copper
|
helps in lysyl oxidase (collagen cross link)
|
|
|
tox of fluorine
|
white chalky teeth
|
|
|
what is a cofactor for adenylate cyclase
|
mg
|
|
|
importance of selenium
|
cofactor for glutathione peroxidase
|
|
|
where is b12 found
|
animal products
|
|
|
what reactions does b12 participate in
|
production of methionine from homocysteine, production of succinyl coa from methylmalonyl coa
|
|
|
what foods is folate found in
|
green leafy veggies
|
|
|
what drugs can cause folate deficiency
|
PS: BAM - phenytoin, alcohol, birth control, sulfonamides, mtx
|
|
|
what reactions is SAM important for (3)
|
methionine to homocysteine, conversion of ne to epi, genesis of phosphocreatine
|
|
|
fiber effect on estrogen levels
|
estrogen is recycled in gut, so fiber can trash it, so lowers levels chronically
|
|
|
what bile salt is associated with colon cancer
|
lithocholic acid
|
|
|
what reactions does biotin participate in
|
pyruvate carboxylase, acetyl coa carboxylase, propionyl coa carboxylase
|
|
|
what vitamin deficinecy can cause alopecia
|
b5, biotin
|
|
|
3 reactions that vit c parcipates in
|
1. reduction of iron 2. collagen 3. conversion of dopamine to ne
|
|
|
d2 vs d3 vitamin
|
d2 is found in plants, d3 is made in skin and found in milk
|
|
|
what vitamins are reduced in breastmilk
|
d & k
|
|
|
what part of kidney contains 1alpha hydroxylase
|
pct
|
|
|
sx of rickets
|
bowed legs, cranial tabes, rachitic rosaries
|
|
|
when is excess vitamin d seen
|
sarcoidosis
|
|
|
function of vitamin e
|
prevention of lipid peroxidation by phospholipase a
|
|
|
deficiency of vit e
|
hemolysis, posterior and spinocerebellar tract defect
|
|
|
how can vit e prevent atherosclerosis
|
neutralizes oxidized ldl, which ismore atherogenic than regular ldl
|
|
|
vitamin e excess
|
inhibits synthesis of vit-k dep clottin factors
|
|
|
what is tetrahydrobiopterin needed for
|
tyrosine, dopa, serotonin, no
|
|
|
another name for vitamin k
|
menadione
|
|
|
what mineral is a cofactor for collagenase
|
zinc (helps with wound healing)
|
|
|
which mineral deficiency is associted with dysgeusia
|
zinc
|
|
|
deficiency of what is associated with alcoholic cirrhosis
|
zinc
|
|
|
what blocks alcohol dehydrogenase
|
fomepezole
|
|
|
what blocks aldehyde dehydrogenase
|
disulfram
|
|
|
why can ethanol cause fatty liver (3)
|
all due to increased nadh. 1. tca gets stopped cuz malate can't go to OAA 2. g3p gets converted to tg's 3. decreased liver proteins means less vldls (THIS IS OVER LONG PERIOD OF TIME. ACUTELY THERE IS INCREASED VLDLS) 4. Decreased NAD+ means can't complete FA oxidation
|
|
|
is the rate of alcohol dehydrogenase dependent on amt of alcohol in system
|
no, zero order
|
|
|
how does ethylene glycol cause damage
|
gets coverted to OAA, get nephrotox from calcium oxalate crystals
|
|
|
how does methanol cause damage
|
gets converted to formic acid, which causes acidosis and retinal dmg
|
|
|
sx of kwashiorkor
|
malnutrition (NOT MALABSORPTION), edema, anemia, fatty liver
|
|
|
for each of the following, where does it occur? FA ox, FA syn, acCoA syn, TCA, oxphos, glycolysis, HMP, protein syn, steroid syn, heme syn, urea, gluconeo
|
p95
|
|
|
for each of the following, what's the rate limt? Glycosis, gluconeo, tca, glycogen syn and lysis, hmp, pur/pyr, urea, fa syn, fa ox, ketogen, cholesterol syn
|
p95
|
|
|
regulation for rate limit enzyme: Glycosis, gluconeo, tca, glycogen syn and lysis, hmp, pur/pyr, urea, fa syn, fa ox, ketogen, cholesterol syn
|
p95
|
|
|
which of the following promotes a kinase, which one promotes phosphorylase: insulin, gluc
|
insulin = phos, gluc = kinase
|
|
|
Draw out metabolilc pathway
|
p96
|
|
|
what happens when these are transaminated: ala, asp, glu
|
ala -> pyr, asp -> oaa, glu -> alphaketog
|
|
|
how much atp is made in heart and liver vs msucle (i.e. during glycolysis and tca cycle)
|
mal asp shuttle in heart and liver =32, 30 elsewhere
|
|
|
what holds aldehydes in the cell
|
tpp
|
|
|
nad vs nadph in terms of function
|
nad = catabolic, nadph = anabolic
|
|
|
what processes is nadph involved in
|
anabolic process (steroid and FA synthesis), respiratory burst (nadph oxidase), cyp, glutathione reductase
|
|
|
hexokinase vs glucokinase: km, vmax, hormone induction, feedback. Which one can convert fructose to f6p
|
hexokinase is low km, low vmax, and uninduced by insulin, and inhibited by g6p. Glucokinase is opposite of that and has no feed back regulation. Hexokinase can convert fruc
|
|
|
how is pfk1 regulated
|
feedback by atp and citrate. Positive by fruc26bp and amp though
|
|
|
regulation of pyruvate kinase
|
feedback by atp and alanine. Postive by fruc16bp (feedforward)
|
|
|
regulation of pyruvate dehydrogenase
|
negative by atp, acCoA, and nadh
|
|
|
which glycolysis rxns require atp
|
hexokinase, pfk1
|
|
|
which glycolysis rxns produce atp
|
phosphoglycerate kinase, pyruvate kinase
|
|
|
what glycolytic enzymes monitor fed/fasting state
|
pfk2, fbp2. pfk2 = fed state, produces f26bp which activates pfk1
|
|
|
what intracellular messaging does glucagon use
|
camp, pka
|
|
|
what is cori cycle
|
lactate from anaerobic metabolism can go to liver hwere it is converted to glucose
|
|
|
how is nitrogen transported in blood
|
alanine
|
|
|
why does exercise activate pyruvate dehydrogenase
|
increased nad, adp, and calcium
|
|
|
triad for arsenic poison
|
vomit + rice stool + garlic breath
|
|
|
how can pyruvate dehydrogenase deficiency be acquired
|
thiamine def from alcohol
|
|
|
how much nadh, fadh2, co2, and gtp produced in tca cycle
|
3 nadh, 1fadh2, 2co2, and 1gtp for each acCoA
|
|
|
regulation of icocitrate dehydrogenase
|
positive by adh, neg by atp and nadh
|
|
|
name things that can inhibit complex 1
|
mptp, rotenone, amytal
|
|
|
name things that can inhibit coenzyme q
|
statins inactivate isopentnyl pyrophosphate, which is needed to form coq
|
|
|
what inhibits complex 4
|
co, h2s, n3, cn
|
|
|
what can inhibit complex 5
|
oligomycin, arsenate (gets incorporated into atp and spontaneously breaks again)
|
|
|
what can uncouple etc
|
2-4 dnp, aspirin, alcohol
|
|
|
3 ways CO can kill oxygenation
|
1. binds hb and lowers vmax, left shifts the curve, and shuts down complex 4
|
|
|
irreversible enzymes of gluconeogesis
|
pyruvate carboxylase, pepck, f16bpase, g6pase
|
|
|
what activates pyruvate carboxylase
|
acetylCOA
|
|
|
what is required for pepck
|
gtp
|
|
|
can odd chain fatty acids undergo gluconeognesis
|
yes, they yield 1 propionyl coa, which can enter tca cycle and undergo gluconeogenesis
|
|
|
what are the products of oxidative reactions in the hmp shunt
|
nadph and ribulose 5p
|
|
|
what are the nonoxidate rxn products in hmp shunt. Also what enzyme
|
transketolase. Ribose5p, g3p, f6p
|
|
|
levels of what promote either glycolysis vs gluconeo/ketogen
|
acCoA
|
|
|
role of nadph oxidase
|
coverts o2 into radical
|
|
|
what are catalase + organisms
|
Sorry SNAP - SAureus, Serratia, Aspergillus, Pseudomonas
|
|
|
why is sputum green in respiratory infections
|
myeloperoxidase contains heme, which is green
|
|
|
what does myeloperoxidase catalyze
|
formation of bleach from hydrogen peroxide
|
|
|
what cells produce nadph oxidase
|
neutrophils and monocytes, not macrophages
|
|
|
effect of hypoxia on respiratory burst
|
crippples
|
|
|
essential fructosuria vs fructose intolerance
|
fructoseuria = fructokinase. Fructuse intol = aldolase b
|
|
|
pathology in fructose intolerance
|
accumulation of f1p results in phosphate depletion, which results in inhibition of glycogenolysis and gluconeogenesis
|
|
|
why is fructose digested faster than other sugars
|
bypasses pfk1
|
|
|
how could infantile cataracts present in children (i.e. behavior or sx wise)
|
failure to tract objects or develop social smile
|
|
|
what enzyme defect in classic galactosemia
|
galactose1p uridyltransferase
|
|
|
what is common and different in galactosemia vs hurlers
|
both have jaundice, hsm, cataract, mr. galactosemia presents earlier and aversion to milk. Hurlers has course facial featurs
|
|
|
what cells lack sorbitol dehydrogenase
|
schwann, lens, retina, kidney
|
|
|
what cofactor is needed to convert glucose to sorbitol
|
nadph
|
|
|
what does bloating and cramps come from with lactase deficiency
|
bacterial digestion products
|
|
|
what is another namem for lactose
|
galactosyl beta,14 glucose
|
|
|
osmotic diarrhea w/ milk ingestion may oft follow what
|
gastroenteritis
|
|
|
what form of amino acids are found in proteins normal
|
l
|
|
|
name the essential amino acids
|
(HAVe you Met Lou Les PITT) - his, arg, val, met, leu, lys, phe, ile, thr, trp
|
|
|
what amino acids are negatively charged in body ph
|
asp, glu
|
|
|
what amino acids are required in growth periods and actually stimulate gf
|
arg, his
|
|
|
what amino acids are present in high concentration in histones
|
arg, lys
|
|
|
draw out urea cycle
|
p105
|
|
|
tx for hyperammonia
|
benzoate, phenylbutyrate, alpha lactalbumin
|
|
|
inheritance of otc deficiency
|
xr
|
|
|
what are the derivates of the following aa's: phenylalanine, tryptophan, histidine, glycine, arg, glutamate
|
p106
|
|
|
what are the six major catabolic products of AA's and which amino acids degrade to them
|
AcCoA, pyruvate, OAA, fumarate, alpha kG, succinyl coa
|
|
|
what is needed to convert proprionyl coa to succinyl coa
|
biotin and b12
|
|
|
draw out the biosynthetic pathway of catecholamine synthesis
|
p107
|
|
|
2 defects for PKU
|
decreased phenylalanine hydroxylase or tetrahydrobipterin
|
|
|
what are the phenylketones
|
phenylacetate, phenyllactate, phyenylpyruvate. these are seen in urine of PKU
|
|
|
what is maternal PKU
|
too much phenylalanine, microcephaly, mr, congenital heart defct
|
|
|
defect in alkatonuria
|
homogentisic acid oxidase, can't make fumarate from tyrosine
|
|
|
causes of albinism
|
decreased tyrosinase, defective tyrosine transporter, lack of migration of neural crest, destruction of melocytes, etc
|
|
|
3 causes of homocysteinuria
|
cystathione synthase deficiency, decreased affinity of cystathione synthase for b6, homocysteine methyltransferase deficiency
|
|
|
which dzz likely to have kyphosis, osteoporosis, and atherosclerosis
|
homocysteinuria
|
|
|
defect in cystinura
|
COAL transporter in kidney (PCT)
|
|
|
how to dx cystinuria
|
cyanide-nitroprusside test turns urine red
|
|
|
cystine vs cysteine
|
cystine = 2cysteines w/ disulfide
|
|
|
tx for cystineurine
|
acetozolamide
|
|
|
vomiting, lethargy after birth, sweet smelling urine
|
maple syrup
|
|
|
pathology of hartnup dz
|
can't absorb trp from kidney or gut
|
|
|
why do glycogen levels increase in msucle during exercise
|
increased calcium stimulates phosphorylase kinase, which activates glycogen phosphorylase
|
|
|
how does insulin/glucagon affect phosphorylase kinase
|
insulin inhibits by stimulating phosphorylase, whereas glucagon stimulates it by pka
|
|
|
branches vs linkages in glycogen
|
alpha 16 vs alpha 14
|
|
|
know and understand the glycogen cycle
|
p110
|
|
|
where is glycogen normally degraded? Role of lysosomal degradation
|
cytoplasm. If missing -> pompeii
|
|
|
myoglobinurea w/ exercise
|
mcardle
|
|
|
what enzyme is deficient in: von gierke, pompe, cori, mcardle
|
p110
|
|
|
which dzz can result in increased blood lactate, uric acid, hsm, and fasting hypoglycemia
|
von gierke
|
|
|
draw out degradation diagram for ceramide
|
p111
|
|
|
cherry red spot on macula
|
niemann pick, tay sachs, central retinal a occlusion
|
|
|
which lysosomal storage dz is xr
|
fabry, hunter
|
|
|
gargoylism, aggressive, no corneal clouding
|
hunter
|
|
|
enzyme deficiency: hurler vs hunter
|
p111
|
|
|
lysosomal storage dz in jews
|
goldman sachs, neiman marcus, gaucher
|
|
|
which lysosomal storage dz does not involve neural issue
|
gaucher
|
|
|
of the lysosomal storage dz that involves neural, which ones are peripheral issues
|
krabbe and fabry
|
|
|
lysosomal storage dz w/ angiokeratoma
|
fabry
|
|
|
which lysosomal storage dz w/ hsm
|
gaucher, neiman paick, hurler, hunter
|
|
|
lysosomal storage: foam cells
|
niemann pick
|
|
|
lysosomal storage: globoid cells
|
krabbe
|
|
|
lysosomal storage: optic atrophy
|
krabbe
|
|
|
lysosomal storage: ataxia
|
metachromatic leukodystrophy
|
|
|
cause of hypoglycemia with low ketone bodies
|
carnitine deficiency
|
|
|
defect in carnitine deficiency
|
cannot transport fatty acids into mitochondrias
|
|
|
defect in acyl coa dehydrogenase leads to
|
increase in dicarboxylic acids, decreased glucose and keytones
|
|
|
rate limiting step in beta oxidation
|
carnitine acyl transferase
|
|
|
rate limiting step in fa synthesis
|
ac coa carboxylase
|
|
|
shuttles in fa syn vs oxidation
|
citrate vs carnitine
|
|
|
which ketone body (acetoacetate or beta hydroxybutyrate) is increased in alcoholism
|
increased nadh-> more beta hydroxybutyrate
|
|
|
why is ketosis seen in alcoholism
|
excess nadh stalls tca cycle, which shunts to ketogenesis
|
|
|
why is gluconeogenesis stalled in prolonged dka
|
OAA is depleted for gluconeognesis
|
|
|
how long does it take for glycogen stores to get depleted
|
1 day
|
|
|
where does ketogenesis occur
|
liver NOT ADIPOSE
|
|
|
what are the only fatty acids that can contribute to gluconeogenesis
|
odd chained (proprionyl coa)
|
|
|
how is cholesterol present in plasma
|
esterified by lcat
|
|
|
what enzyme helps to transfer cholesterol from hdls to other lipoprotiens
|
cetp
|
|
|
what is the function of apo a1
|
activation of lcat
|
|
|
what enzyme is needed to convert nascent hdl to mature
|
lcat
|
|
|
function of apo b100
|
ldlr binding and vldl secretion
|
|
|
function of apo c2
|
cofactor for lpl
|
|
|
function of apo b48
|
cm secretion
|
|
|
function of apo e
|
remant uptake
|
|
|
what apolipoproteins are present on cm
|
b48, c2, e, a4
|
|
|
what apoliporopteins present on vldl
|
b100, c2, e
|
|
|
what apolipoprotein increased in alcoholism
|
vldl
|
|
|
what apoliporoteins present on ldl
|
b100
|
|
|
what acts as repository for apo c and apo e
|
hdl
|
|
|
defect in abetalipoproteinemia
|
deficiencies in b100 and b48
|
|
|
glycerophospholipid vs sphingomyelin
|
spingo has spingomyelin. Only 1 fa
|
|
|
what are glycospingolipids
|
ceramide + sugar
|
|
|
mitochondrial localization signal
|
ampipathetic helix
|
|
|
peroxisomal localization signal
|
ser-lys-leu
|
|
|
what enzyme converts glucose to sorbitol
|
aldose reductase
|
|
|
high risk of leukemia, sarcoma, breast cancer
|
li fraumeni
|
|
|
does conversion between the different oxidized forms of folate require b12
|
no
|
|
|
person has muscle cramping and hemolytic anemia. Where is deficiency
|
somewhere in glycolysis,
|
|
|
posterior column defect w/ low B12 and normal pH. What is problem
|
folate deficiency (normal pH means it's not methylmalonic acid)
|
|
|
where is hyaluronic acid mostly found
|
interstitial tissue
|
|
|
where is chondroitin sulfate mostly found
|
cartilage, cornea
|
|
|
where is dermatan sulfate mostly found
|
cardiac tissue
|
|
|
where is heparin mostly found
|
mast cells
|
|
|
where is keratan sulfate mostly found
|
cornea, along with chondroitin
|
|
|
what water soluble vitamins are stored in liver
|
b12, folate
|
|
|
what vitamin is found in bear liver
|
a
|
|
|
what vitamin deficiency may result in decreased axillary, pubic, facial hair
|
zinc
|
|
|
where does FA synthesis take place
|
cytoplasm
|
|
|
where does FA degradation take place
|
mitochondria (that's where products will be used)
|
|
|
where does FA synthesis take place
|
cytoplasm
|
|
|
where does FA degradation take place
|
mitochondria (that's where products will be used)
|
|
|
mechanism of lactulose
|
acidifies intestine to trap ammonia
|
|
|
mentally retarded, fat, testicle atrophy, food seeking behavior kid with negative fish
|
prader-willi caused by uniparental disomy
|
|
|
another name for alkaptonuria
|
onchronosis
|
|
|
describe 2 functions of clathrin proteins
|
1. transfer from trans golgi to lysosomes 2. transfer from cell membrane to endosome
|
|
|
what is procollagen and where is it formed
|
initial triple helix form of collagen. formed in ER
|
|
|
what chromosome is apkd1 located on
|
16
|
|
|
what chromsome is apc gene located on
|
5
|
|
|
what chromsome is p53 located on
|
17
|
|
|
what chromosome is rb located on
|
13
|
|
|
what chromosome is huntingtin located on
|
4
|
|
|
what chromosome is nf1 located on
|
17
|
|
|
what chromosome is nf2 located on
|
22
|
|
|
what chromosome is vhl located on
|
3
|
|
|
what chromosome is cftr located on
|
7
|
|
|
what type of sequences is overerxpressed in the promotor region
|
TATA, CAAT box
|
|
|
what is the product of NADPH oxidase
|
superoxide, not hydrogen peroxide
|
|
|
why are people with CGD susceptible to catalase + organisms
|
cuz they "clean up their mess" and get rid of the h2o2 that body could use to make bleach
|
