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105 Cards in this Set

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Achilles xanthomas
familial hypercholesterolemia - LDL receptor.
Purines vs pyrimidines
Purines: (A+G) 2 rings, Guanine has a ketone
Pyrimidine: (CUT) thymine has a methyl, cytosine is deaminated to uracil (RNA),

G-C is 3 bonds vs A-T is 2 bonds - thus G-C has a higher melting pt
transition vs transversion
transition - purine for purine, pyr for pyr

transversion - pur for pyr
Beginning replication after separation
Primase makes a primer for Pol III to attach
DNA Pol III
reads 3'->5'
synthesis 5'->3'
proofreads 3'->5'
DNA Pol I excises the RNA Primer,
DNA ligase reanneals the break
DNA pol 1

DNA topo1
DNA topo2
DNA pol 1 - excises RNA primer with 5'->3' exonuclease
Topo1 +2 prevent supercoiling as the fork unwinds.
Inhibitors of e' transport
Rotenone, CO, hydrogen sulfide, antimycin A, CN
Complex 1 - rotenone
Complex 2 antimycin A
Complex 4 - CO, CN, hydrogen sulfide
musty Odor
PKU
DNA replication
strand separation (4)
1. DnaA - aggregate at origin of replication and begin separating
2. Single Strand BP
3. DNA helicase
4. Topo 1,2 stay ahead of helicase to prevent supercoiling
Lagging strand
goes in opposite direction of rep fork.
Okasaki fragments -
Rna primer then DNApol III in little pieces.
Histones
positive charge - via lots of arginine and lysine
because they need to bind to negatively charged DNA
RNA replication
1. RNA polymerase binds to promoter regioin
2. TAATAA seq is part of promotor upstream from start of transcription. - Hognes box in euk and pribnow box in prok
3. CAAT box - further upstream than TAATAA - has a promoter fx.
4. After promoter recognition - elongation. Same as DNA except no primer and no proofreading.
5. Postranlational modification
RNA POl 1,2,3
Pol1 - ribosomal RNA
Pol2 - mRNA
pol3 - tRNA
Posttranslational modification
1. RNA pol2 - makes hnRNA in nuc.
2. hnRNA capped at 5' end with 7-methyl-guanine by SAM
3. Poly A tail on 3' end
4. Introns cleaved out
5. Mature mRNA xported to cyto.
Regulation of RNA synth
EUk vs Prok
Euk: methylation, amplification, rearrangement, histones, inducers activate gene expression, some is reg at transcription
Prok: regulated during transcription, Operon is a set of adjacent genes that are activated or deactiveated
Each operon has a promoter region upstream form the genes, an operator that activates or deactivates the genes, a repressor that can bind to operator and deactivate transcription
Inducible operon (lac)
Repressible operon (tryp)
Lac - repressor is bound to promoter =no transcription. When inducer, lactose is around it binds the repressor - it can no longer bind now transcription can occur
Repressible: Repressor is not bound so transcription occurs, when co-repressor, tryptophan is around, it binds repressor and together they bind DNA and no transcription occurs.
Gram staining
(4)
1. Crystal violet applied - all cells blue
2. Iodine - forms crystal violet-iodine complexes
3. Organic solvent -Ethanol - to wash it all away - GN is colorless, GP is purple
4. Safranin - colors GN red.
Transduction
Transfer of DNA from one cell to another via viral vector -
Generalized: any genes, doesn't involved viral DNA
Specialized: can transfer only certain genes and contains viral DNA.
Pos sense ssRNA virus
contains an mRNA genome which interacts directly with host ribosomes for translation of a viral RNA pol which comletes replication
neg sense ss and dsRNA virus
packaged with a viral RNA pol - which produces a pos RNA for transcription.
DNA virus
replicate in nuc (except pox) using host cell RNA pol.
glycosylase
DNA single strand repair
exision repair - a specific glycolase recognizes and removes a damaged base. Endonuclease makes a break several base pairs to the 5' side. Exonuclease removes a short stretch of nucleotides. Dna pol fills gap and ligase seals it
Xeroderma pigmentosa
UV light
Defective excision repair such as uvr ABC endonuclease
inability to repair thymine dimers
types of RNA
1. rRNA - most abundant
2. mRNA - largest
3. tRNA - smallest
RNA pol I,II,III
I- rRNA
II- mRNA - also opens DNA at promoter site (A-T rich seq - TATA, CAAT)
III- tRNA
Enhancer
regulation of gene expression
alters gene expression by binding transcription factors - may be close to far from or within the gene its regulating
snRNPs
small nuclear ribonucleopreotein particles
takes 1' mRNA transcript and facilitates spicing by binding to it and forming splicesosomes
Aminoacyl-tRNA synthetase
1 per AA uses ATP - finds AA and binds it to tRNA - hydrolyzes bond if AA incorrect
tRNA charging

GTP used in translocation of tRNA
N-linked oligosacharide additions
occur in RER, the site of secretory (excreted) proteins + Nlinked oligo additions.
Golgi cis face vs trans face
Cis face accepts stuff from ER and stuff goes to trans face rls the vesicles to wherever
Microtubules
and associated defects
dimers of alpha and beta tubulin
each dimer has 2 GTP bound, in flagella, cilia, mitotic spindles. grows slow, collapses quickly - also involved in axoplasmic transport.
Drugs: mebendazole, Taxol, griesofulvin, vincristine/blastine, colchicine
Chediak Higashi
Cilia
9+2 arrangement of microtubules
Dynein is an ATPase taht links periph 9 doublets and causes bending of cilium by differential sliding doublets.
dynein - retro
kinesin - antero
phosphatidyl choline (5)
RBC membranes, myelin, bile, surfactant, esterification of cholesterol (LCAT)
Collagens (5)
I -90% - bone, tendon, late wound repair
II- Cartilage
III- Reticulin - skin, bv, uterus, granulation tiss
IV - BM and basal lamina
X - epiphyseal plate
Collagen synth
Inside fibroblasts:
1. collagen alpha chains (preprocollagen) - translated in ER-> hydroxylation (Vit C)
2. Golgi: glycosylation of pro alpha chains lysine PROCOLLAGEN (triple helix of 3 collagen alpha chains)- then exocytosed in EC space
Outside Fibro:
peptidase -> TROPOCOLLAGEN
lysine-hydroxylysine cross linkage (lysyl oxidase) COLLAGEN FIBRILS
Vimentin
Desmin
Cytokeratin
GFAP
Vimentin: CT
Desmin: muscle
Cytokeratin: epith cells
GFAP: neuroglia
Rxns
Mito
Cyto
Both
Mito: beta oxidation, krebs cycle, acetyl CoA production
Cyto: glycolysis, FA synthesis, HMP shunt, protein and steroid synth
Both: gluconeogenesis, urea cycle, Heme synthesis
SAM
ATP + methionine
transfers a methyl group (phosphocreatine)
regeneration of methionine requires B12
B6 vs biotin
B6 - pyridoxine - decarboxylation reactions, and aminotransfers
Biotin - carboxylations (CO2)
Rate limiting enzyme of glycolysis
regulation
PFK1 - phosphofructokinase
F6P -> Fructose 1,6 BisPhosphate
Stim by: AMP, F2,6BP
Inhibited by: citrate, ATP
Glucokinase vs Hexokinase
Glucokinase has a lower affinity (high Km) but a higher capacity (Vmax).
Hexokinase is inhibited by high levels of G-6-P.
means your tissues are full of glucose and its time for the liver to store glycogen
Regulation of glycolysis
irreversible enzymes
PKF-1
Stim by: AMP, F2,6BP
Inhibited by: citrate, ATP
Pyruvate Kinase:
stim: F1,6BP
inhib: ATP, alanine
Pyruvate DH:
stim: NAD+, ADP, Ca++
inhibted: ATP, Acetyl CoA, NADH
Pyruvate DH complex
3 enzymes 5 cofactors
1. Pyrophosphate: B1, thiamine: TPP
2. FAD: B2, riboflavin
3. NAD: B3, niacin
4. CoA: B5, pantothenate
5. Lipoic Acid
2 purely ketogenic acids
lysine, leucine
Cori Cycle
transfers lactate from RBC to liver
RBC: glucose to pyruvate: yields 2ATP, pyruvate to lactate, lactate to blood to liver, lactate to pyruvate: yield NADH, pyruvate to Glucose: requires 6 ATP
Krebs cycle regulation
Citrate synthase: (OAA + Acetyl CoA)
inhibited by: ATP
Isocitrate DH: (Isocitrate->AKetoglutarate)
inhibited by: ATP, NADH
stim by: ADP
AlphaKGDH:
inhib by: succinyl CoA, NADH
Krebs cycle production
3NADH
1FADH2
2CO2
1GTP/acetyl CoA = 12ATP/acetyl CoA
Kreb cycle constituents
pneumonic
Can I Keep Selling Sex For Money Officer
Citrate to Isocitrate
Isocitrate to aKG: stim by ADP, inhib by ATP, NADH
aKG to succinyl CoA: inhib by Succinyl CoA, NADH, ATP
Succinyl CoA to Succinate to Fumarate to malate to OAA
2,4 dinitrophenol
uncoupling agent - makes mito membrane permeable
Oligomycin
directly inhibits mito ATPase
leads to incr proton gradient
e' transport is halted
Gluconeogenesis
Mito and cyto
Pathway Produces Fresh Glucose
Pyruvate Carboylase
PEP carboxykinase
F1,6bisphosphatase
G6phosphatase
Aldolase B deficiency
Fructose intolerance
hypoglycemia, jaundice, cirrhosis, vomiting
Galactosemia vs other galactose d/o
Galactosemia: AR, no galactose-1-phos uridyltransferase. Accumulation of toxic stuff - galacitol
Cataracts, hepatosplenomegaly, MR.
Galactokinase def: exclude galactose and lactose from diet - early cataracts - mild
Essential AA
MV PITT HALL
Ketogenic: Lys, leu
Gluco/ketogenenic: Ile, phe, Trp
Glucogenic: met, thr, val, arg, his
transport of Alanine and Glutamate
Transfer of ammonium
Muscle:
AA+alphaKG-> aKacid+Glutamate
Glutamate+Pyruvate-> alphaKG+NADH+alanine
Liver:
Alanine+alphaKG-> glutamate+pyruvate+NAD+
glutamate->urea
Pyruvate-> glucose
glucose to muscle
Urea cycle
Liver - mito/cyto
Ordinarily Careless Crappers Are Also Frivolous About Urination
Mito: NH4+CO2 to Carbamoyl Phosphate
Cyto: to Citruline + aspartate to Arginosuccinate
AS to Arginine: fumarate leaves
Arg to ornithine: Urea leaves
Phenylalanine hydroxylase def
PKU musty body odor
Phenylalanine + Tetrahydrobiopterin-> Tyrosine + DHB
DHB to THB: requires NADPH + dihydropterin reductase
MR, growth retardation, fair skin, eczema
incr phenylketones - phenylacetate, phenyllacetate, phenylpyruvate
Def of homogentisic acid oxidase
Alkaptonuria
degradative pathway of tyrosine
Alkapton bodies - darkens urine
CT is dark (cartilage)
benign
Lack of migration of neural crest cells
albinism
tyrosinase def or defective transporters for tyrosine
Homocystinuria
1. Cystathione Synth def: tx with decr Met incr Cys
2. Cystathione has low affinity for B6: incr B6 in diet
3. Meth synthase def
Cys is essential
MR, osteoporosis, tall, kyphosis, lens subluxation, atherosclerosis
Cystinuria
tx
COLA
Defect of renal tubular AA transporter
Cystine, Ornithine, Lysine, Arginie
Can get cystine stones
Tx with acetazolamide
MSUD
decr alpha ketoacid DH
Blocked degradation of branch AA (Ile, Val, Leu)
incr alpha ketoacids, esp Leu
Severe CNS defects,MR, death
SCID
adenosine deaminase deficiency
Excess ATP and dATP imbalances nucleotide pool via fdbk inhibition of RIBONUCLEOTIDE REDUCTASE. Prevents DNA synth and thus decr lymphocytes. gene therapy
Purine Nucleotide synth
Ribose 5 phosphate to PRPP
via PRPP synthetase
inhib by IMP, AMP, GMP
PRPP to 5-phosphoribosyl-1-amine
via Glutamine PRPP amiotransferase
To to to IMP to:
1. ATP (Asp, GTP)
2. GTP (NAD, Gln, ATP)
Committed step of purine synth
PRPP (5' phosphoribosyl-1-pyrophosphate) to 5-phosphoribosyl-1-amine
enzyme: Glutamine PRPP amidotransferase
stim by PRPP
inhib by IMP, AMP, GMP
reciprocal substrate affect
in purine synth
From IMP
to ATP requires GTP
to GTP requires ATP
balances supply of each
Purine Salvage
Hypoxanthine +PRPP to IMP
via HPGRT
to IMP
IMP to AMP+GMP

Guanine + PRPP to GMP
via HPGRT
Pryrimidine sythesis
committed step
committed step: aspartate transcarbamoylase (carbamoyl phosphate to cabamoyl aspartate)
CAD: Carbamoyl phosphate Synthetase 2, *aspartate transcarbamoylase, Dihydroorotase
1. CAD: Gln + CO2 to Carbamoyl Phosphate to Carbamoyl aspartate to
Dihydroorotate to orotic acid to orotidine monophosphate to
UMP to UTP to CTP
Adenylate Kinase
interconversion
AMP + ATP <-> 2ADP
ribonucleotide reductase
reduces ribonucleoside diphosphate to deoxyribonucleoside diphosphate
with Thioredoxin2SH which becomes thioredoxin2S
Reg: only proceeds in presence of nuceloside triphosphate XTP
inhibited by dATP
Thioredoxin reductase
Converts oxidized thioredoxin back to Thioredoxin2SH
via NADPH
Thymidylate synthase
thymidylate synthase: dUDP + N5N10 methylene THF to
dTDP + DHF
Methyl group from serine
recovery, dihydrofolate reductase: DHF+NADPH to THF
THF + Ser to gly + N5N10 methylene THF
Glycogen storage dz
Von Gierke
Pompe
Cori
McArdles
VG: glucose 6 phosphatase
Pompes: lysosomal alpha 1,4 glucosidase
Coris: debranching enzyme - alpha 1,6 glucosidase
McArdles: muscle glycogen phosphorylase
Von Gierkes
Pompes
Coris
VG- fasting hypoglycemia, glycogen accum in liver, hepatomegaly, incr lactate
Pompe: lysosomal alpha 1,4 glucosidase def
cardiomegaly, liver and muscle, early death
debranching - alpha 1,6 Cori: glucosidase - milder than VG
nl blood lactate
Fabrys dz
sx (4)
lysosomal storage dz, XR
periph neuropathy, angiokeratomas, cardio/renal dz
alpha galactosidase A
accum - ceramide trihexoside
Gaucher dz
(3)
hepatosplenomegaly
aseptic necrosis of femur
bone crisis
beta glucocerebrosidase
Niemann Pick
(4)
Progressive neurodegeneration, developmental delay,
Cherry red spot
splenhepatoogmeg
Tay Sachs
(4)
Progressive neurodegeneration
developmental delay
cherry red macula
lysosymes with onion skin
Krabbes
(3)
beta galactosidase
accum galactocerebroside
periph neuropathy
developmental delay
optic atrophy
Metachromic Leukodystrophy
aryl sulfatase A
accum: cerebroside sulfate
central and periph demyelination
with ataxia and dementia
Hurlers Syndrome
sx (5)
Hunters Syndrome
sx (1.0)
accum - dermatan sulfate
Hurlers: alpha-L-iduronidase
develop delay, gargoyle facies, airway obstruction, corneal clouding, hepatosplenomeg
Hunters: XR, iduronidate sulfatase
mild hurl, agressive behavior, no corneal clouding
Lipases
Pancr lipase - degrades dietary TG in small intestine
Lipoprotein lipase - degrades TG in CM and VLDL
Hepatic TG lipase: TG in IDL
HSL: degrade TG stored in adipocytes.
CM
Apoprotein CII (CM and VLDL): activates LPL
ApoB48: mediates CM secr
Apoprotein A1: activates LCAT
mediates formation of HDL
VLDL
B100- mediates secr
CII - activates LPL
E - mediates remnant uptake by liver
IDL
formed after degradation of VLDL
delivers TG and cholest to liver
LDL
B100 - mediates binding to rec for endocytosis
Delivers hepatic cholesterol to periph tiss
formed by LPL action on VLDL.
HDL
A-I activate LCAT - esterification of chol
CETP: mediates transfer of cholesterol esters to other liproptein particles
Reverse cholesterol transport
repository for apoC and E (VLDL metabol)
secr from liver and intestines
altered Apo E
dysbetaliproproteinemia
incr IDL and VLDL
LPL def or altered apoCII
hyperchylomicronemia
elevated TG and cholesterol - CM
Heme synth
Succinyl CoA + Glycine to dALA
via d-ALA-synthetase (committed step)
Porphobilinogen
Pre-uroporphyrinogen
Uroporphyrinogen III
Coproporphrynogen
Protoporphyrin to Heme
via ferrochetalase and Fe
Mito: all b4 dALA, and protoporphyin and after.
Sx of porphyrias
5 P's
painful, pink, peripheral neuropathy, psychological disturbances, precipitated by drugs
Acute Intermittant porphyria

Porphyria cutanea tarda
AIP: Urine: dALA porphobilinogen.
deficiency of Uroporphyrinogen I synthetase.
PCT: urine -uroporphyrin -tea colored
uroporphyrinogen decarboxylase deficiency
photosensitivity
Methemaglobinemia
Heme has iron in its ferric state Fe3+
does not bind O2
but had high affinity for CN
Genetics
all female offspring of father is affected
either male or female offspring of mother can be affected
Xlinked dominant inheritance

hypophosphatemic rickets
Genetics
all offspring of mom
no offspring of dad
Mitochondrial inheritance

lebers optic neuropathy
mitochondrial myopathies
Dry beri beri vs wet beri beri
Thiamine deficiency
Dry: polyneuritis
Wet: high output cardiac failure - dilated cardiomypothy, edema
Riboflavin def
B2 - angular stomatitis, cheilosis, corneal vascularization
Pellagra
B3 (niacin) def
Hartnup dz: Decr tryptophan absorption
Malignant carcinoid syndrome: incr trp metabolism
INH: decr B6
Diarrhea, dermatitis, dementia
glossitis
Vit B5
pantothenate
def: dermatitis, enteritis, alopecia, adrenal insufficiency
(CoA)
B6
pyradoxine
Convulsions, hyperirritability (INH and OCT)
transamination (ALT, AST), decarboxylation, Heme synth
Vit B12
Cobalamin
involved in
Homocystein+NmethylTHF to methionine + THF
MethylmalonylCoA to Succinyl CoA
Schilling test to detect def
Biotin
def: dermatitis, enteritis, caused by antibiotic use and ingestion of raw eggs
carboxylations
Pyruvate Carboxylase
AcetylCoA to Malonyl-CoA (acetyl CoA carboxylase)
ProprionylCoA to Methylmalonyl CoA
Vit K
catalyzes carboxylation of glutamic acid residues
synthesized by gut flora - thus abx can lead to def
Zc deficiency
delayed wound healing
hypogonadism, decr adult hair, predispose to alcoholic cirrhosis
Sweaty feet smell
Aminoacidopathy
isovaeric acidemia
Present after the 1st days of life with feeding difficulties, lethargy, sz, liver dz, renal dz, and coma. Ketoacidosis, hyperglycemia, hyperammonemia, neutropenia, thrombocytopenia
DNA gyrase
The holoenzyme synthesizes the leading and lagging strands simultaneously at the replication fork (Figure 27.32). DNA polymerase III begins the synthesis of the leading strand by using the RNA primer formed by primase. The duplex DNA ahead of the polymerase is unwound by an ATP-driven helicase. Single-stranded binding protein again keeps the strands separated so that both strands can serve as templates. The leading strand is synthesized continuously by polymerase III, which does not release the template until replication has been completed. Topoisomerases II (DNA gyrase) concurrently introduces right-handed (negative) supercoils to avert a topological crisis.