Biochemistry - Side by Side

8/9/2019 Biochemistry - Side by Side

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At which end of the tRNA isthe aa bound?

Can RNA polymerase initiatechains?

Define transition.

Define transversion.

The amino acid is covalentlybound to the 3' end of thetRNA.

Yes.

Substituting purine for purineor pyrimidine for pyrimidine.

Substituting purine forpyrimidine or vice versa.


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Define tRNA wobble.

Describe DNA replication.

Describe DNA replication(continued answer)

Accurate base pairing isrequired only in the first 2nucleotide positions of anmRNA codon, so codonsdiffering in the 3rd 'wobble'position may code for thesame tRNA/amino acid.

Origin of replication: continuous DNAsynthesis on leading strand anddiscontinuous (Okazaki fragments) onlagging strand. Primase makes an RNAprimer on which DNApolymerase caninitiate replication. DNA polymerasereaches primer of preceding fragment;

5'3' exonuclease activity of DNApolymerase I degrades RNA primer;DNA ligase seals;

3'->5' exonuclease activity ofDNA polymerase 'proofreads'each added nucleotide.DNAtopoisomerases create a nickin the helix to relievesupercoils

Less condensed (vs.Describe Euchromatin

Heterochromatin),transcriptionally active


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Condensed, transcriptionally

Describe Heterochromatin

inactive

Describe key structuraldifferences betweennucleotides.

Describe single-strand,excision repair.

Describe the differencebetween Eukaryotic Vs.Bacterial, viral and plasmidorigin of replications

1) Purines (A,G) have 2 rings.2) Pyrimidines (C,T,U) have 1ring 3) Guanine has a ketone.4) Thymine has a methyl

Excision repair-specificglycosylase recognizes andremoves damaged base.Endonuclease makes a breakseveral bases to the 5' side.Exonuclease removes shortstretch of nucleotides. DNApolymerase fills gap. DNA ligaseseals.

Eukaryotic genome hasmultiple origins ofreplication. Bacteria, virusesand plasmids have only oneorigin of replication.


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Describe the main differencein eukaryotic and prokaryoticsynthesis of RNA.

Describe the method bywhich introns are removed

from primary mRNAtranscript.

Describe the number ofbonds per purine-pyrimidinepair. Which is stronger?

Describe the structure ofChromatin.

Eukaryotes have 3 different

RNA polymerases ('I, II, IIIsynthesize RMT') andprokaryotes have 1 RNApolymerase (which makes all3 kinds of RNA).

Introns are precisely spliced outof primary mRNA transcripts. Alariat-shaped intermediate isformed. Small nuclearribonucleoprotein particles(snRNP) facilitate splicing bybinding to primary mRNAtranscripts and formingspliceosomes.

G-C bond (3 H-bonds) A-Tbond (2 H-bonds G-C bond isstronger

Condensed by (-) chargedDNA looped around (+)charged histones(nucleosome bead). H1 tiesthe nucleosome together in astring (30nm fiber)


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Describe tRNA structure.

Does RNA polymerase have aproof reading function?

How do purines andpyrimidines interact,

molecularly?

How does RNA polymerase IIopen DNA?

75-90 nucleotides, cloverleafform, anticodon end is opposite3' aminoacyl end. All tRNAs botheukaryotic and prokaryotic, haveCCA at 3' end along with a highpercentage of chemicallymodified bases. The amino acidis covalently bound to the 3' endof the tRNA.

No.

Purines and pyrimidines pair(A-T, G-C) via H-bonds

RNA polymerase II opens DNAat promoter site (A-T richupstream sequence- TATAandCAAT)


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1) Capping on 5' end (7

How is the original RNA

methyl G) 2)Polyadenylation

transcript processed in

on 3' end ( =200 As) 3)

eukaryotes? (3)

Splicing out of introns

In eukaryotes, what mustoccur before an newlysynthesized RNA transcriptleaves the nucleus?

Only processed RNA istransported out the nucleusof eukaryotes.

Name 3 types of RNA

1) mRNA 2) rRNA 3) tRNA

Name the charged histonesaround which (-) charged

H2A, H2B, H3, H4 histones

DNA loops (nucleosomecore).


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Name the enzyme responsiblefor the synthesis of RNA in

RNA polymeraseprokaryotes.

Name the enzymes involvedin ss-DNA repair. (5)

Name the enzymesresponsible for the synthesisof eukaryotic RNA.

1) specific glycosylase. 2)endonuclease. 3)exonuclease. 4) Danpolymerase. 5) DNA ligase.

RNA polymerase I RNA

polymerase II RNApolymerase III

Exons contain the actualWhat are exons?

genetic information codingfor a protein


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What are four types of

1) Silent 2) Missense 3)

mutations that can occur in

Nonsense 4) Frame shift

DNA?

Introns are intervening

What are introns?

noncoding segments of DNA

What are the four features ofthe Genetic Code?

1) Unambiguous 2)Degenerate 3) Commaless,non-overlapping 4)Universal

What atoms link aa in a

Amino acids are linked N to C

protein chain?


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What changes occur in DNA

In mitosis, DNA condenses to

structure during mitosis?

form mitotic chromosomes

What codon sequence isfound at the 3' end of alltRNAs?

What direction is DNAsynthesized in?

All tRNAs, both eukaryotic

and prokaryotic, have CCA at3' end.

5' > 3'. Remember that the5' of the incoming nucleotidebears the triphosphate(energy source for the bond).The 3' hydroxyl of thenascent chain is the target.

Protein synthesis also

What direction is protein

proceed in the 5' to 3' (5' >

synthesized in?

3')


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What direction is RNAsynthesized in?

What does the AUG mRNAsequence code for?

What does the P in P-sitestand for? What does the A inA-site stand for?

5' > 3'. Remember that the5' of the incoming nucleotidebears the triphosphate(energy source for the bond).The 3' hydroxyl of thenascent chain is the target.

AUG codes for methionin,

which may be removed beforetranslation is completed. Inprokaryotes the initial AUGcodes for a formyl-methionin(f-met).

P-site: peptidyl; A-site:aminoacyl;

What does the statement, 'the

The code is non-overlapping.

genetic code is commaless'

The exception are some

mean? What is the exception

viruses

to this rule?


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What does the statement, 'the

More than one codon may

genetic code is degenerate'

code for the same amino acid

mean?

What does the statement, 'thegenetic code is unambiguous'mean?

What does the statement, 'thegenetic code is universal'mean? What are theexceptions (4)?

What enzyme is responsiblefor 'charging' tRNA? How doesit work?

Each codon specifies only oneamino acid

The same code is used in alllifeforms. The exceptions are1. mitochondria, 2.archaeobacteria, 3.Mycoplasma, 4. some yeasts

Aminoacyl-tRNA synthetase.This enzyme (one per aa, usesATP) scrutinizes aa before andafter it binds to tRNA. Ifincorrect, bond is hydrolyzedby synthetase. The aa-tRNAbond has energy forformation of peptide bond.


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What inhibits RNA polymerase

alpha-amanitin inhibits RNA

II?

polymerase II

What is a conservativemissense mutation?

What is a frameshiftmutation? What is usually theeffect on the encodedprotein?

Mutation results in a differentaa encoded, but that new aais similar in chemical

structure to the original code

A change in DNA resulting inmisreading of all nucleotidesdownstream. Usually resultsin a truncated protein.

Mutation results in a different

What is a missense mutation?

aa encoded.


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A change in DNA resulting in

What is a nonsense mutation?

an early stop codon.

What is a promoter?

What is a silent mutation?What usually causes a silentmutation?

What is a snRNP? What is itsfunction?

Site where RNA polymeraseand multiple othertranscription factors bind toDNA upstream from genelocus.

Mutation results in the sameaa encoded. Often the basechange is in the 3rd positionof the codon

snRNP = small nuclearribonucleoprotein. snRNPsfacilitate splicing by bindingto primary mRNA transcriptsand forming spliceosomes.


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What is an enhancer?

What is an Okazaki fragment?

What is hnRNA?

What is responsible for theaccuracy of amino acidselection during peptidesynthesis?

Stretch of Dan that altersgene expression by bindingtranscription facts. May belocated close to, far from,oreven within (an intron) thegene whose expression itregulates.

The discontinuous DNAsynthesized on the laggingstrand during DNA replication

hnRNA = heterogeneousnuclear RNA The initial RNAtranscript is called hnRNA

Aminoacyl-tRNA synthetaseand binding of charged tRNAto the codon are responsiblefor accuracy of amino acidselection.


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What is the broad

Purines (A, G) and Pyrimidines

classification of nucleotides?

(C, T, U)

(2)What is the differencebetween hnRNA and mRNA?

hnRNA = the initial RNAtranscript mRNA = cappedand tailed transcript

What is the difference

Uracil found in RNA Thymine

between thymine and uracil?

found in DNA

What is the function of DNA

DNA ligase seals synthesized

ligase during DNA

DNA into a continuous strand

Replication?


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What is the function of DNApolymerase during DNAReplication? (2)

What is the function of DNA

topoisomerase during DNAReplication?

What is the function ofprimase in DNA Replication?

5'3' exonuclease activity ofDNA polymerase I degradesRNA primer; 3'5'exonuclease activity of DNApolymerase 'proofreads' eachadded nucleotide.

DNA topoisomerases create a

nick in the helix to relievesupercoils

Primase makes an RNAprimer on which DNApolymerase can initiatereplication.

What is the function of RNA

RNA polymerase I makes

polymerase I?

rRNA


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RNA polymerase II makes

polymerase II?

mRNA


RNA polymerase III makes

polymerase III?

tRNA

What is the mRNA initiation

AUG, or rarely GUG

codon?

What is the mRNA stop

UGA (U Go Away) UAA (U Are

codons? (3)

Away) UAG (U Are Gone)


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A mischarged tRNA (bound to

What is the result of

wrong aa) reads usual codon

'mischarged' tRNA?

but inserts wrong amino acid.

What is the role ofendonuclease in ss-DNArepair?

What is the role of excisionrepair-specific glycosylase inss-DNA repair

Endonuclease makes a breakseveral bases to the 5' side.

Recognizes and removesdamaged base.

What is the role of

Exonuclease removes short

exonuclease in ss-DNA

stretch of nucleotides.

repair?


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If incorrect, the aa-tRNA

What prevents an incorrect

bond is hydrolyzed by

aa-tRNA pairing?

aminoacyl-tRNA synthetase.

What role does histone H1play in chromatin structure?

What supplies the energy forformation of peptide bond?

H1 ties the nucleosometogether in a string (30nmfiber)

The aa-tRNA bond has energyfor formation of peptidebond.

Promoter mutation commonly

What would most likely be the

results in dramatic decrease

result of a mutation of the

in amount of gene

promoter sequence?

transcribed.


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ATP is used in tRNA charging,

When is ATP used in protein

whereas GTP is used in

synthesis? When is GTP used

binding of tRNA ribosome

in protein synthesis?

and for translocations.

When is recombinationinvolved in DNA repair?

If both strands are damaged,repair may proceed viarecombination withundamaged homologouschromosome.

Where does RNA processing

RNA processing occurs in the

occur in eukaryotes?

nucleus.

Which is the largest type of

mRNA (massive)

RNA?


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Which is the most abundant

rRNA (rampant)

type of RNA?

Which is the smallest type of

tRNA (tiny)

RNA?

Which nucleotide position inthe codon has room for'wobble'?

Codons differing in the 3rd'wobble' position may codefor the same tRNA/aminoacid

Electrophorese RNA on a geltransfer to a filter expose

How do you do a Northern

filter to a labeled DNA probe

Blot?

visualize the DNA probeannealed to the desired RNA


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How do you do a SouthernBlot?

How do you do aSouthwestern blot?

How do you do a WesternBlot?

How do you do PCR? (4 steps)

Electrophorese DNA on a geltransfer to a filter anddenature the DNA expose toa labeled DNA probevisualize probe annealed todesiredDNA fragment

Separate protein byelectrophoresis transfer to afilter expose to a labeled DNAprobe visualize DNA bound todesired protein

Separate protein byelectrophoresis transfer to afilter expose to a labeledantibody visualize Ab boundto desired protein

1. Heat DNA to denature. 2.Cool DNA and let the primersaneal. 3. Heat-stablepolymerase replicates DNAfollowing each premer 4.Repeat


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What are some geneticdiseases detectable by PCR?(11)

SCID, Lesh-Nyhan, CF,

familial hypercholesterolemiaretinoblastoma, sickle cell, B-thalassemia, hemophilia Aand B, von Willebrand's dz,lysosomal dz, and glycogenstroage dz

What gene is involved in

CFTR

cystic fibrosis?

What gene is involved infamilial

LDL-Rhypercholesterolemia?


HGPRT

Lesh-Nyhan syndrome?


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Rb

retinoblastoma

What gene is involved inSCID?

What gene is involved inSickle cell and ?-thal?

What is an ELISA (enzymelinke immunosorbant assay)?

adenosine deaminase

? globin gene

Rapid lab test in which anantibody or an antigen(usually collected from apatient) is exposed to an Agor Ab liked to to an enzyme.A positive test results in aAg-Ab match and is usuallyindicated by a color change


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Lab procedure used toWhat is PCR?

synthsize many copies of adesired fragment of DNA

Von Geirke's disease is a

result of?

A build up of sphingomyelinand cholesterol inreticuloendothelial andparenchymal cells and tissuesis found in what disease

A child is born with multiplefractures and blue sclera whatis the diagnosis

Glucose-6-phosphatasedeficiency; also known asType I Glycogen Storagedisease

Niemann-Pick disease

Osteogenesisimperfecta;disease ofabnormal collagen synthesisresulting in fractures andtranslucent Conn tiss overchorioid causing the bluesclera


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A congenital deficiency of

tyrosinase would lead to

A patient presents withcataracts,hepatosplenomegaly, andmental retardation, what isthe Dx?

A patient presents withcorneal clouding and mentalretardation that is, based onfamily history, inherited in anAutsomal recessive pattern,you impress your intern witha Dx of

A patient presents with 1.Hyperextensible skin 2.Tendency to bleed 3.Hypermobile joints youastutely Dx them with

Albinism, can't synthesizemelanin from tyrosine

Galactosemia

Hurler's syndrome

Ehlers-Danlos syndrome


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Absence ofGalactosylceramide Beta-galactosidase leads tothebuild up of whatcompound in what disease

Absence of hexosaminidase Aresults in the acumulation of

what molecule that ischaracteristic of what disease

accumulation ofgalactocerebroside in thebrain; Krabbe's disease

GM2-gangliosideaccumulation; Tay-Sachsdisease

albinism increase risk of

skin cancer

developing what

Autosomal dominant defectswill effect what members of a

male and femalefamily


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Autosomal recessivedisorders often result in what

enzyme deficiencieskind of defect/deficiencie?

Autosomal recessivedisorders usually effect how

usually only one generationmany generations in a family?

Bloom's syndrome is

sensitivity to radiation as a

characterized by sensitivity to

result of a DNA repair defect

what as a result of

Creatine and Urea are both

Arginine

made from?


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Defects in structural genesoften follow what pattern of

Autosomal dominantinheritance?

Defiency of arylsulfatase A

results in the accumulation ofwhat molecule where

define genetic imprinting

sulfatide in the brain, kidney,liver, and peripherla nerves.Characteristic ofMetachromaticLeukodystrophy

when differences inphenotype depend onwhether the mutation is ofpaternal or maternal origin

when not all individuals withdefine incomplete penetrance

a mutant genotype show themutant phenotype


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define Linkage Disequilibrium

define pleiotropy

Define variable expression

Fanconi's anemia is caused bywhat typr of agents

the tendency for certainalleles at two linked loci tooccur together more oftenthatn expected by chance, asmeasured in a population

one gene has more than oneeffect on an individual'sphenotype, autosomaldominant defects are oftnepleiotropic

nature and severity of thephenotype varies from oneindividual to another

cross-linking agents


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Ganglioside is made up of

Ceramide + oligosacharide +

what

sialic acid

Gaucher's disease is causedby a deficiency of

Glucocerebrosideaccumulation in the brain,liver, spleen, and bonemarrow are characteristic of

Hglycine is used to make

what important compound

Beta-glucocerebrosidase

Gaucher's disease

Porphyrin which is then usedto make Heme


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Histamine is synthesized

Histidine

form what compound

How does adenosinedeaminase defiency causeSCID

How is Lesch-Nyhansyndrome inheritied andwhatis the result and symptoms

Purine salvage pathway. ADAnormal converts adenosine to

inosine without it ATP &dATP build up inhibitingribonucleotide reductasewhich prevents DNAsynthesis loweringlymphocyte production

X-linked recessive; increasein uric acid production.Retardation, self mutalation,aggression, hyperuricemia,gout, and choreathetosis

Hunter's syndrome is

deficiency of iduronate

characterised by what

sulfatase; X-linked recessive

biochemical problem and how

mild form of Hurler's

is it inherited


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In ataxia-telangiectasia DNAdamage caused by what

X-rayssource cannot be repaired

in G6PD deficiency thedecrease in NADPH can lead

to _____ if exposed to _____

In PKU what builds up andwhat can be found in theurine

hemolytic anemia;oxidizingagents( fava beans,sulfonamides, primaquine)and antituberculosis.

phenyalanine builds upeleading to phenylketones inthe urine

In PKU, what amino acid

tyrosine.

becomes essential


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in the Hardy-Weinberg

p and q are each separate

equation, what are the p and

alleles; 2pq = heterozygote

q and what is 2pq

no male to male transmissionis characteristic of what type

X-linked recessiveof genetic disorders?

Pompe's disease is caused by lysosomal alpha-1,4adefect in?

glucosidase defiency

Sickle cell anemia is caused

AR single missense mutationby what defect and what is

in the beta globin; 1:400it's prevalence

blacks


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recurrent painful crisis and

Siclkle cell anemia patients

increased susceptibility to

often present with

infections

Skin sensitivity to UV lightsecondary to a DNA repairdefect is characteristic ofwhat?

xeroderma pigmentosum

Sphingosine + fatty acid

ceramide

yields

the COL1A gene mutation is

Osteogenesis

associated with what disease

imperfecta;dominant negitive

and what type of mutation is

mutation

this


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The main defect in Ataxiatelangiectasiis a ___

The most common form ofOsteogenesis imperfecta haswhat genetic problem andinheritance

the transporter for whatamino acids is defective incystinuria

Thymidine dimers are formedby exposure of DNA to UVlight, are the dimers formedon the opposing strands of aDNA molecule or on the sameside?

DNA repair defect

abnormal Collagen Type Isynthesis;Autosomaldominant

COLA: Cys,Ornithine, Lysineand Arginine

dimers are on same side


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Tryptophan can be used to

Niacin, 'Serotonin, melatonin

make what three chemicals

Type III Glycogen storagedisease is a defiency of ?

What is the cause Tx andsymptoms of Lactaseintolerance?

deficiency of debranchingenzyme alpha-1,6glucosidase

Lactase defiency, avoid diaryproducts or add lactse pills todiet symptoms bloating,cramps, osmotic diarrhea

none, mitochondrialWhat % of kids born to father

myopathies are inheritedwith mitochondrial myopathie

from mitochondria which iswill be effected

only inherited from themother


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What are the clinical signs of

optic atrophy, spasticity, early

Krabbe's disease

death

What are the components ofCerebroside

What are the components ofSphingomyelin

What are the components ofsphingosine

Ceramide + glucose/galactose

Ceramide +phosphorylcholine

serine + palmitate


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What are the findings and

neurologic defects; increase

treatment of pyruvate

intake of ketogenic nutrients

dehydrogenase

What are the findings inMcArdles's disease and whatis the problem

What are the findings in PKUand what is the treatment

What are the findings inPompe's disease and what isit alternate name

increased glycogen in skeletalmuscle due to a Glycogenphosphorylase defiencystrenuous exercise causemyoglobinuria and painfulcramps

Mental retardation, fair skin,eczema, musty body odor Tx.Decreasee phenylalanin(nutrasweet) and increasetyrosine

Cardiomegaly and systemicfindings, leading to earlydeath. Pompe's trashes thePump. (Heart, Liver andmuscle) Type II Glycogenstoragedisease


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severe fasting hypoglycemia,

What are the findings in Von

increased glycogen in the

Gierke's disease

liver

What are the fourassumptions of the Hardy-Weinberg equilibrium

1.There is no mutationoccuring at the locus 2. Thereis no selection for any of thegeno types at the locus 3.

Random mating 4. nomigration in or out

What are the purely ketogneic

lysine and leucine

amino acids

What are the signs and

asymptomatic, benign,

symptoms of essential

Fructose appears in blood

fructosuria

and urine


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what are the signs andsymptoms of Homocystinuria

What are the symptoms ofAlkaptonuria

Homocysteine accumulates inurine and cystine becomesessential Methionine and it'smetabolites build up in bloodMental retardation,osteoporosis, dislocation ofthe lens

Dark Urine from alkaptonbodies; also connective tissueis dark, may have arthralgias.Bengin disease

What are the symptoms of

hypoglycmeia, jaundice,

Fructose intolerance

cirrhosis

CNS defects, mental

What are the symptoms of

retardation and death. Urine

Maple syrup Urine disease

smells like maple syrup


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tyrosine, thyroxine Dopa

What biological chemicals are

dopamine NE, Epinephrine

derived form phenylalanine

and Melanin

What causes Essential

defect in fructokinase

Fructosuria

What causes Lesch-Nyhansyndrome

Absence of HGPRTase,(normally convertshypoxanthine to IMP andguanine to GMP) LacksNucleotide Salvage (LNS)purines

What do melanin and

both derived directly from

Norepinephrine have in

dopamine Phenylalanine to

common

tyrosine to Dopa to Dopamin


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What does the term 'loss ofheterozygosity' mean

What enzyme defiencies areassociated with hemolytic

anemia

What event in embryology cancause albinism

What genetic error can causeSevere CombinedImmnuodeficiency (SCID)?

when one allele of an allele pair islost. An example is when apatient inherits or develops amutation in a tumor suppressorgene and the complimentaryallele is then lost to deletion/mutation. The patient would notdevelop the cancer until the lossof the normal allele.

Glycolytic enzymedeficiencies 1. Hexokinase2.glucose-phosphateisomerase 3.aldolase4.triose-phosphate isomerase5. phosphate-glyceratekinase enolase pyruvatekinase

lack of migration of neuralcrest cells to skin (formmelanocytes)

Adenosine deaminasedeficiency


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what group of people can be

alcoholics due to B1

seen with pyruvate

defiecincy

dehydrognease deficiency

What is a complication of

cystine kidney stones

cystinuria

What is a dominant negitivemutation?

a mutation that exerts adominant effect because thebody cannot produce enoughof the normal gene productwith only one allelefunctioning normally

What is a good pnuemonic for

Very-Von Gierke's Poor-

the four glycogen storage

Pompes Carbohydrate-Cori's

diseases

Metabolism-McArdles


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What is commonly associatedwith xeroderma pigementosa?

What is crucail to thediagnosis of an Autosomaldominant disease?

What is genetic anticipation?

What is inheritance of G6PDdfiency and what populationis effected more often

dry skin, melanoma and othercancers

Family history

the severity of the diseasworsens or age of onset ofdisease is earlier insucceeding generations

X-linked recessive; blacks


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What is NAD/NADP made

Niacin, 'Serotonin, melatonin

form

What is osteogenesisimperfecta often confused

child abusewith

What is the biochemicaldefect in Metachromaticleukodystrophy and what isthe inheritance pattern

deficiency of arylsulfatase A;Autosomal recessive

What is the biochemical

deficiency of Beta-

defect in Nieman-Pick

glucocerebrosidase;

disease and how is it

autosomal recessive

inherited


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What is the biochemical effectof G6PD defiency

What is the cause ofCystinuria and what are the

signs/symptoms

What is the cause of Fabry'sdisease and what is thecommon clinical problem

decrease in NADPH which isnecessary to reduceglutathione which in turndetoxifies free radicals andperoxides

inheritied defect o the tubularamino acid transporter forCystine, ornithine, Lysine andArginine in kidneys excesscystine in urine

Alpha-galactosidase Adeficiency; givesaccumulation of ceramidetrihexoside causing renalfailure

Absence of galactose-1Whatis the cause of

phosphate uridyltransferase;galactosemia?

accumualtion of toxicsubstances (galactitol)


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Alpha-L-iduronidase defiency

What is the characteristic

leads to corneal clouding and

defect in Hurler's syndrome

mental retardation

What is the characteristicfindings in Neurofibromatosis

What is the clinical picture ofa patient with cystic fibrosis

Multiple caf-au-lait spots,neurofibromas increasedtumor susceptibilty

pulmonary infections,exocrine pancreaticinsufficiency, infertility inmen

What is the clinical picture of

muscular weakness and

Duchenne's muscular

degeneration

dystrophy


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decreased Alpha-ketoacidWhat is the defect in Maple

dehydrogenase. blocksSyrup Urine disease

degradation of branched

amino acids Ile. Val. Leu

What is the epidemiology of Age-dependnet and/orlactose intolerance

hereditary (blacks and Asians)

What is the etiology ofHomocystinuria

defect in cystathioninesynthase. Two forms: 1.deficiency 2. decreased

affinity of synthase forpyridoxal phosphate(cofactor)

What is the finding of

mild mental retardation but

Hunter's syndrome on

no corneal clouding

H&P


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What is the formula for

p^2 +2pq + q^2 =1 and pHardy-Weinberg equilibrium?

+q=1

What is the genetic mech. Of

AR; multiple loss-of-functionCystic fibrosis and it's

mutations in a chlorideinheritance

channel

What is the genetic

X-linked recessive;caused bymechanism of Duchenne's

multiple loss-of-funtionmuscular dystrophy

mutations in a muscle protein

X-linked; progressiveexpansion of unstable DNA

What is the genetic

causes failure to express

mechanism of Fragile X MR

gene-encoding RNA-bindingprotein


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what is the genetic

AD, multiple loss-of function

mechanism of

mutations in a signaling

Neurofibromatosis

molecule

What is the genetic problem

trisomy 21 chromosomal

in Down's Syndrome

imbalance

What is the inheritance of

Autosomal recessive

Krabbe's disease

Autosomal recessive; 1:30 in

what is the inheritance

Jews of European descent and

pattern and carrier frequency

1:300 in the generalin Tay-Sach's

populaition


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What is the inheritancepattern of Ehlers-Danlossyndrome

What is the inheritancepattern of Gaucher's disease

What is the inheritancepattern of xerodermapigmentosa

What is the inheritiancepattern of Fabry's disease

10 types of this syndromeType IV-Auto Dominant TypeVI-Auto Recessive Type IX-X-linked recessive

Autosomal recessive

autosomal recessive

X-linked recessive


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Heinz Bodies: altered

What is the lab symptoms of

hemoglobin precipitate in

G6PD defiency

RBC

What is the mostdistinguishing finding in TaySach'sdisease on Physicalexam

What is the pathogneumoniccell type founde in Gaucher'sdisease

cherry red Macula; thesepatients die by 3

Gaucher's cells with thecharacteristic 'crinkled paper'appearance of enlargedcytoplasm

What is the pattern ofinheritance of Leber's

mitochondrial inheritance

hereditary optic neuropathy?


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increased susceptibility to

What is the phenotype in

fractures;connective tissue

Osteogenesis imperfecta

fragility

What is the phenotype ofDown's syndrome

What is the phenotype ofFragile X

Mental and growthretardation, dysmorphicfeatures, internal organanomalies especially heartproblems

mental retardation,characteristic facial features,large testes

What is the predominantproblem in Ehlers-Danlos

Faulty collagen synthesissyndrome


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What is the prevalance of

1:2000 whites; very rare

cystic fibrosis

among Asians

What is the prevalandce of

1:3000 with 50% being new

Neurofibromatosis

mutations

What is the prevalence of

1:800; increased risk with

Down's syndrome and what

advanced maternal age

are the risk factors


1:300; 33% new mutations

Duchenne's musc. dys.


56/138

What is the prevalence ofFragile X- associated mentalretardation


osteogenesis imperfecta

What is the prevalence ofPhenylketonuria

What is the priamry defect inFructose intolerance and howis it inherited?

1:1500 males: can be infeamales is a multi-stepprocess

1:10000,

1:10000

defiency of aldolase B,autosomal recessive


57/138

congenital defiency ofWhat is the primary defect in

homogentisic acid oxidase inAlkaptonuria

the degradative pathway oftyrosine

What is the primary defect(s)found in Phenylketoneuria

What is the rate-limitingenzyme in the Hexose-Monophosphate shunt?

either 1.decreased

phenylalanie hydroxylase or2. decreasedtetrahydrobiopterin cofactor

Glucose-6-phosphatedehydrogenase

backup of substrate (pyruvate

What is the result of pyruvate

and alanine) resulting in lactic

dehydrognease deficiency

acidosis


58/138

defective excision repair suchWhat is the specific defect in

as uvr ABC exonuclease; haveXeroderma pigmentosa

inability to repair thymidinedimer formed by UV light

What is the treament ofCystinuria and what is apossible consequence of nottreating

What is the treatment offructose intolerance?

What is the treatment ofHomocystinuria

Acetazolide to alkinlize the

urine cystine kidney stonesdue to excess cysteine

decrease intake of bothfructose and sucrose (glucose+ fructose)

1. For a defiency incystathionine synthase tx bydecrease Met and increaseCys in diet 2. for decreasedaffinity of synthase Tx bydecrease vitamin B6 in diet


59/138

Exclude galactose and lactose

What is the Tx of

(galactose +glucose) form

galactosemia?

diet

what offspring of femalesaffected with a mitochondrialinherited disease will beeffected?

what percent of offspringfrom two autosomal recessivecarrier parents will beeffected?

all offspring can be effected

25%

what percent of sons of aheterazygous mother carrying

50%

an x-linked disease will beeffected?


60/138

What period of life do

often present clinically after

autosomal dominant defects

puberty

present in?

What three phenyl ketones

phenylacetate, phenyllactate,

build up in the urine of PKU

phenylpyruvate

patients

What to thyroxine and Dopa

both derived form tyrosine

have in common

What type of genetic error isusually more severe

AR disorders are often moreautosomal recessive or

severedominant?


61/138

What type of inheritance istransmitted only through

mitochondrialmothers?

When do patients usually

present with autosomal

present in childhoodrecessive disorders?

Why are RBC so susceptible toGlycolytic enzyme def.

Why do people with fructoseintolerance becomehypoglycemic?

RBC's metabolize glucoseanaerobically (nomitochondria) and dependson glycolysis

deficent aldolase B causes theaccumulation of Fructose 1phosphatewhich acts as aphosphate sink and traps thephosphate. Decreasedphosphate availability inhibitsglycogenolysis andgluconeogenesis


62/138

X-linked recessive disease is

males

aften more severe in

2,3-BPG via

1,3-BPG

bisphosphoglycerate mutase

Acyl

coenzyme A, lipoamide

aldehydes

TPP


63/138

prostaglandins, -

Arachidonate

thromboxanes, -leukotrienes

Associate the following signal

j

molecule precursors.

At body pH, what AA are

Arg and Lys His is neutral at

negatively charged?

pH 7.4

At body pH, what AA are

Asp and Glu

positvely charged?


64/138

ATP

cAMP via adenylate cyclase

By what rxn order kineticsdoes alcohol dehydrogenase

zero order kineticsoperate?

CH(3) groups

SAM

Choline

CDP-choline


65/138

Choline

CO(2)

Contrast glucagon andinsulin.

Contrast hexokinase andglucokinase.

ACh via choline

acetyltransferase

biotin

glucagon phosphorylatesstuff, -turns glycogensynthase off andphosphorylase on

hexokinase throughout thebody, -GK in liver and haslower affinity but highercapacity for glucose


66/138

Contrast hexokinase andglucokinase.

Does insulin affect glucoseuptake of brain, RBC's andliver?

Does insulin inhibit glucagonrelease by alpha cells ofpancreas?

electrons

only HK is feedback inhibitedby G6P

No

yes

NADH, NADPH, FADH(2)


67/138

Fructose-6-phosphate

Glucose

glutamate

GTP

fructose-1,6-bis-P via PFK(rate limiting step ofglycolysis)

UDP-Glucose

GABA via glutamatedecarboxylase (requires vit.B6)

cGMP via guanylate cyclase


68/138

How are ketone bodiesexcreted?

How are ketone bodiesformed?

How do the statin drugswork?

How does disulfiram work?

in urine

FA and AA converted toacetoacetate and bhydroxybutyrate

they inhibit HMG-CoAreductase

inhibits acetylaldehydedehydrogenase


69/138

How does FA enter thecytosol?

How does FA enter themitochondria?

How does lead affect hemesynthesis?

How does the brainmetabolize ketone bodies?

via citrate shuttle

via the carnitine shuttle

inhibits ALA dehydratase andferrochelatase preventsincorporation of Fe

to 2 molecules of acetyl coA


70/138

How is bilirubin removedfrom the body?

How is ethanol metabolized?

How is FA entering themitochondria inhibited?

How is glutamate convertedto a-ketogluturate

collected by liver, conjugatedwith glucuronate excreted inbile

ethanol oxidized toacetylaldehyde by alcoholdehyd and NAD+acetalaldehyde ox to acetateby acetylaldehyde and NAD+

by cytoplasmic malonyl-CoA

By the loss of amonium andreduction of NADP


71/138

How is glutamine convertedto glutamate?

How is heme catabolized?

How is LDL uptakeundergone?

How is most plasmacholesterol esterfied?

By the loss of amonium

scavenged from RBC's and Fe+2 is reused

by target cells throughreceptor-mediatedendocytosis

LCAT(lecethin-cholesterolacyltransferase)


72/138

How is NAD+ generally usedmetabolically?

How is NADPH generally usedmetabolically?

How is TCA regulated?

How many ATP's per acetylCoA?

catabolic processes

anabolic processes (steroidand FA synthesis), repiratoryburst, P-450

by need for ATP and supply ofNAD+

12


73/138

How many ATP equivalantsare needed to generate

6glucose from pyruvate?

How many enzyme activitiesdoes pyruvate dehydrognase

3possess

How many moles of ATP aregenerated aerobically through

36 ATPG3P shuttle?

How many moles of ATP aregenerated aerobically through

38 ATPmalate shuttle?


74/138

How many moles of ATP aregenerated anaerobically?

In what tissue does hemesynthesis occur (2)?

Insulin mneumonic

Is Serum C peptide presentwith exogenous insulinintake?

2 ATP

liver and bone marrow

insulin moves glucose intocells

No


75/138

Kwashikor results from a

Malabsorption, Edema,

protein deficient MEAL

Anemia, Liver (fatty)

(mneumonic)

Mnemonic forgluconeogenesis irreversibleenzymes?

Pathway Produces FreshGlucose

Mnemonic for SAM.

SAM the methyl donor man

Name 6 common products of

glucose, lactate, Acetyl CoA

pyruvate metabolism?

+CO2, OAA, Alanine


76/138

Name the activated carrierswith associated moleclues

tetrahydrofolates(one carbon units).

phosphoryl

ATP

T/F. Uncouplers stop ATP

FALSE

production?

Underproduction of heme

microcytic hypochromiccauses what anemia?

anemia


77/138


78/138

What are the cofactors of

pyrophosphate, lipoic acid,

pyruvate dehydrogenase (5)?

CoA, FAD and NAD

What are the components of a

TG, FFA and apo E

cholymicron remnant?

What are the components of a

TG, apo C-II, apo E, B-48,

cholymicron?

apo A

What are the components of

less TG, CE, B-100 and E

IDL?


79/138

What are the components of

CE and B-100

LDL?

What are the components ofVLDL?

What are the degradationproduct steps (3)?

What are the effectorhormones of cholesterolsynthesis?

TG, Cholesterol ester, B-100,CII and E

heme to biliverdin to bilirubin

insulin increases, glucagondecreases


80/138

What are the effector

decreased glucagon and

hormones of glyc and pyr ox?

increased insulin


insulin decreases, epi and

hormones of glycogenolysis?

glucagon increases


insulin increases, glucagon

hormones of lipogenesis (2)?

decreases

What are the electron

rotenone, antimycin A, CN-,

transport chain inhibitors?

CO


81/138

What are the essentialglucogenic/ketogenic AA?

What are the essentialgluconeogenic AA?

What are the essentialketogenic AA?

What are the irreversibleenzymes of gluconeogenesis(4)?

Ile, Phe, Try

Met, Thr, Val, Arg, His

Leu and Lys

-pyruvate carboxylase, -PEPcarboxykinase,-fructose-1,6bisphosphotase,-glu-6phosphotase


82/138

-glucokinase/hexokinase,

What are the irreversible

PFK,-pyruvate kinase,

enzymes of glycolysis (4)?

pyruvate dehdrogenase

What are the main substrates

-glucose, -lipoprotein

used by adipose tissue (2)?

triacylglycerol

What are the main substratesused by brain?

-glucose, -aa and ketonebodies when starved, polyunsatFA in neonates

FFA, -some glucose, -lactate,


-ketone bodies, VLDL and

used by heart?

cholymicrom triacylglycerol


83/138


FFA, -glucose, -lactate,

used by liver?

glycerol, fructose, -AA

What are the major activatorsof gluconeogenesis?

What are the major activatorsof glycolysis and pyruvateoxidation?

Acetyl CoA for pyruvatecarboxylase and cAMP for PEPcarboxykinase and F-1,6bis-P

AMP, fructose2,6-bis-P,fructose 1,6-bis-P in muscle,CoA, NAD, ADP and pyruvate

What are the major metabolic

- esterfication of FA's -

pathways of the adipose

lipolysis

tissue (2)?


84/138


-glycolysis,-aa metabolism

pathways of the brain (2)?


Aerobic pathways like B

pathways of the heart?

oxidation and TCA cycle

What are the major products

-FFA, -glycerol

of the adipose tissue (2)?


lactate

of the brain?


85/138

glucose,-VLDL,-HDL,-ketone


bodies,-urea,-uric acid, -bile

of the liver (10)?

acids, -plasma proteins

What are the major regulatoryenzymes of gluconeogenesis(3)?

What are the major regulatoryenzymes of glycolysis andpyruvate oxidation?

pyruvate carboxylase, PEPcarboxykinase and F-1,6bis-P

PFK and pyruvatedehydrogenase

What are the major regulatoryenzymes of cholesterol

HMG-CoA reductasesynthesis?


86/138

What are the products of theliver in the fasting state?

What are the products of theliver in the fed state?

What are the products of theTCA cycle?

What are the some causes ofhyperbilirubinemia (4)?

glucose and ketone bodies

glycogen and fats/VLDL

3NADH, 1FADH2, 2CO2,1GTP per Acetyl CoA

massive hemolysis, -block incatabolism, -diplaced frombinding sites on albumin,decreased excretion


87/138

conjugated (direct/What are the sources of

glucuronidated) andhyperbilirubinemia (2)?

unconjugated(indirect/

insoluble)

What are the specialist

-lipoprotein lipase, and wellenzymes of muscle (2)?

developed resp chain


-lipoprotein lipase,-hormone

enzymes of the adipose

sensitive lipase

tissue (2)?

-lipoprotein lipase,


respiratory chain well-

enzymes of the heart (2)?

developed


88/138

What are the specialistenzymes of the liver?

What are the three sites in theelectron transport chain for

active proton transfer?

-glucokinase,-glu-6phosphotase,-glycerolkinase, -PEP carboxykinase, fructokinase,-arginase,-HMGcoA synthase and lyase, -7ahydroxylase

NADH dehydrogenase, Cyt b/c1, and cytochrome oxidaseaa3

What can occur as an excess

pancreatitis, lipemia retinalis

of cholymicrons (3)?

and eruptive xanthomas

What can occur as an excess

pancreatitis

of VLDL?


89/138

What catalyzes cholymicronto cholymicron remnant?

What catalyzes IDL to LDL?

What catalyzes VLDL to IDL?

What causes a hangover?

lipoprotein lipase

hepatic TG lipase

lipoprotein lipase

acetylaldehyde accumulates


90/138

What color is bilirubin andwhat is the condition ofexcess?

What complex is pyruvatedehydrogenase similar to?

What do LT c4, D4 and E4 do(4)?

What does breath smell likeduring ketoacidosis?

yellow, jaundice

a-ketogluturatedehydrogenase complex

bronchconstriction,vasoconstriction, contractsmooth muscle, increasevascular permeability

fruity(acetone)


91/138

What does excess LDL cause

atherosclerosis, xanthomas,

(3)?

and arcus corneae

What does oligomycin do toETC?

ATPase inhibitor thatincreases proton gradient butnot ATP production

What does PGI stand for?

platelet gathering inhibitor

thromboxanes,

What does the COX pathway

prostaglandins and

yield?

prostacyclin


92/138

What does the lipooxygenasepathway yield?

What does this stand for?

What enzyme catalyzes therate limiting step ofcholesterol syn.?

What induces the PPP?

leukotrienes

Ornithine, citrulline,carbamoyl-p, aspartate,arginosuccinate, fumurate,arginine, urea

HMG-CoA reductase

insulin


93/138

What is a major component ofatherosclerotic plaque?

What is an uncoupling agentto the ETC?

What is cofactor required formethionine (SAM)regeneration?

What is does PGI 2 inhibit (2)?

modified LDL

2,4 DNP (dynamite)

vitamin B12

platelet aggregation andvasodilation


94/138

What is familial hypercholesteremia?

What is Kwashikor?

What is LT B4?

What is Marasmus?

AD genetic defect in LDLreceptor

protein malnutrition

neutrophil chemotactic agent

Protein-calorie malnutritionresulting in tissue wasting


95/138

What is the activator oflipogenesis?

What is the activator of PPP?

What is the clinical picture ofKwashikor?

What is the committed step ofheme synthesis?

Citrate

NADP+

small child with swollen belly

glycine+succ CoA to deltaaminolevulinate


96/138

What is the composition ofATP?

What is the consequence ofaccumulated intermediates ofheme synthesis?

What is the easy way toremember the cofactors ofPDH complex?

What is the effector hormonefor glycogenesis?

Base(adenine), ribose, 3phosphoryls

porphyrias

First 4 B vitamins + lipoicacid

Glucagon


97/138

What is the energy content ofthe 2 phosphoanhydride

7 kcal/mol eachbonds?

What is the functiion of HDL(2)?

transfers cholesterol fromperiphery to liver acts as arepository for apoC and apoE

What is the functioin of

FA uptake to cells from

lipoprotein lipase?

choly's and VLDL's

What is the function of

rate limiting step of heme

aminolevulinate (ALA)

synthesis converts succinyl

synthase ?

CoA and glycine to ALA


98/138

delivers dietary TG to


peripheral tissues delivers

cholymicrons (2)?

dietary cholesterol to liver


degradation of stored TG's

hormone sensitive lipase?

delivers hepatic cholesterol to

What is the function of LDL?

peripheral tissues


liberates arachidonic acid

phospholipase A2?

from cell membrane


99/138

-produces ribose-5-P fromWhat is the function of PPP

G6P for nucleotide(3)?

synthsesis,-producesNADPH,-part of HMP shunt

transfers methyl units to wide

What is the function of SAM?

variety of receptors

What is the function of theCori Cycle?

transfers excess reducingequivalants from RBC's andmuscle to liver to allow

muscle to functionanaerobically

What is the function of Tx A2

platelet aggregation and

(2)?

vasoconstriction


100/138

What is the function of VLDL?

What is the inhibitor oflipogenesis (2)?

What is the inhibitor of PPP?

What is the limiting reagentof ethanol metabolism?

Delivers hepatic TG toperipheral tisssue

long-chain acyl-CoA, -cAMP

NADPH

NAD+


101/138

What is the main substrate of

glucose

fast twitch muscle?

What is the main substrate of

ketone bodies, -FFA,

slow twitch muscle?

triacylglycerol

What is the major function of

rapid movement

fast twitch muscle?


sustained movement

slow twitch muscle?


102/138


increase vascular smooth

the a1 receptor?

muscle contraction

What is the major function ofthe a2 receptor (2)?

What is the major function ofthe B1 receptor (5)?

-decrease sympatheticoutflow, -decrease insulin

release

increase HR, -inc.conntractility, -inc. reninrelease,-inc. lipolysis, -inc.aq. Humor formation


vasodilation, bronchodilation,

the B2 receptor (3)?

inc. glucagon release


103/138


relax renal vascular smooth

the D1 receptor?

muscle


modulate transmitter release,

the D2 receptor?

esp. in brain

What is the major function ofthe H1 receptor (4)?

increase mucous production,-contract bronchioles, pruritis,-pain


increase gastric acid secretion

the H2 receptor (4)?


104/138


service for the other organs

the liver?

and tissues

What is the major function ofthe M1 receptor?



CNS

decrease heart rate

increase exocrine glandsecretions


105/138


increase vascular smooth

the V1 receptor?

muscle contraction

What is the major function ofthe V2 receptor?

What is the major inhibitor ofglyc and pyr ox?

increase water permeabilityand reabsorption in the renal

collecting tubules

citrate (FA and ketone bodies)ATP and cAMP, -acetyl CoA,NADH, ATP

What is the major inhibitor of

ATP, long-chain acyl-coA

TCA?


106/138


cholesterol and cAMP

cholesterol synthesis (2)?


ADP and AMP and F-2,6-bisglycogenesis?

P

What is the major metabolicpathway of fast twitch

glycolysismuscle?

What is the major metabolic

Aerobic pathways like B

pathway of slow twitch

oxidation and TCA cycle

muscle?


107/138

What is the major product of

lactate

fast twitch muscle?

What is the major product ofslow twitch muscle?

What is the major regulatoryenzyme of glycogenolysis?

What is the major regulatoryenzyme of lipogenesis?

lactate

glycogen synthase

acetyl CoA carboxylase


108/138

What is the major regulatoryenzyme of pentosephosphate pathway (PPP)?

What is the major regulatoryenzyme of TCA?

What is the mechanism forthe ETC inhibitors?

What is the mechanism forthe ETC uncoupler?

glucose-6-P dehydrogenase

citrate synthase

directly block ETC, cause

decreased proton gradient

inc. membrane permeability,decreases proton gradientand increases O2 consmption


109/138

What is the mechanism ofethanol hypoglycemia?

What is the mnemonic for thevarious substrates of the TCA

cycle?

NADH/NAD increases in livercauses diversion of pyruvateto lactate and OAA to malateinhibits gluconeogenesis andthus leads to hypoglycemia

Cindy Is Kinky So SheFornicates More Often

What is the mneumonic for

PriVaTe TIM HALL

essential AA?

A-1 Activates LCAT B-100What is the mneumonic for

Binds to receptor C-II is amajor apolipoproteins?

Cofactor for LPL E mediatesExtra (remnant) uptake


110/138

Ordinarily, Careless Crappers

What is the pneumonic for

Are Also Frivolous About

the Urea cylce substrates?

Urination

an intestinal intermediateWhat is urobilinogen?

reabsorbed to blood andexcreted in urine as urobilin

What other physiological sideaffect occurs by this

hypoglycemia?

fatty liver seen in chronicalcoholics

What rxn does pyruvate

pyruvate+NAD+CoA goes to

dehydrogenase catalyze?

acetyl-CoA +CO2+NADH


111/138

What second messenger

adenylcyclase reduces cAMP

system does Gi work

levels and protein kinase A is

through?

reduced

What second messengersystem does Gq workthrough?

What second messenger

system does Gs workthrough?

phospholipase C, PIP2 to IP3and DAG DAG works throughprotein kinase C IP3 increasesIC calcium ion

adenylcyclase converts ATP tocAMP to phosphorylateprotein kinase A

sparingly water soluble toxic

What some properties of

to CNS transported by

bilirubin (3)?

albumin


112/138

What step does this enzyme

HMG-CoA to mevalonate

work on?

What suppressesglycogenesis?

What tissues require insulinfor glucose uptake?

What type of metabolismoccurs in the both (3)?

insulin

adipose and skeletal muscle

-gluconeogenesis, -ureacycle, heme synthesis


113/138

glycolysis, -fatty acidWhat type of metabolism

synthesis, -HMP shunt, occursin the cytoplasm (5)?

protein synthesis (RER), steroid

synthesis (SER)

What type of metabolismoccurs in the mitochondria(3)?

Beta oxidation, -Acetyl-CoAproduction, -Kreb's cycle

When are ketone bodies

during prolonged starvation

formed (2)?

diabetic ketoacidosis

Where are basic AA found in

in Histones that bind to

high amounts?

negative DNA


114/138

Where are cholymicrons

small intestine

made?

Where are ketone bodies

liver

made?

Where does FA degradation

mitochondria, where it will be

occur?

used

Where does FA synthesis

cytosol

occur?


115/138

Where is ALA synthase found

mitochondria, heme

and what inhibits it?

Where is HDL secreted from(2)?

Where is insulin made?

Where is NADPH generated?

liver and small intestine

B cells of pancreas

is a product of HMP shuntand the malate

dehydrogenase rxn


116/138

Where is SAM generated?

From ATP and methionine

Where is VLDL made?

Which ketone body isdetected in urine test (1only)?

Carbon monoxide has agreater affinity for whatmolecule?

liver

acetoacetate

CO has 200x greater affinityfor hemoglobin than foroxygen


117/138

hemoglobin is composed of 4

Describe the subunits for

polypeptide subunits (2 alpha

hemoglobin?

and 2 beta)

During the cycle of the

phosphorylated

sodium pump, it is __.

How are enzymes regulated?

How does calcium causeskeletal muscle contraction?

1. enzyme concentrationalteration (syntesis and/ordestruction) 2. covalentmodification (eg.phosphorylation) 3. proteolyticmodification (zymogen) 4.allosteric regulation (eg. feedbackinhibition) 5. transcriptionalregulation (eg.steroid hormones)Ca2+ -> activates troponin-> moves tropomyosin > exposes actin-biningsite -> allows actin-myosin interaction


118/138

How does calcium causesmooth muscle contraction?

How does procollagenmolecules become collagen

fibrils?

How is CO2 transported fromtissue to lungs?

How is collagen fibillarstructure reinforced?

Ca2+ -> binds tocalmodulin because smooth

muscle doesn't havetroponins!

procollagen molecules cleavedat terminal regions bypeptidases to become insolubletropocollagen, which aggregatesto form fibrils procollagenmolecules are exocytosed intoextracellular space, where thisprocess occurs

-binds to amino acids inglobin chain (at N-terminus),not to heme - favors T formof Hb (thus promotes O2unloading)by the formation of covalentlysine-hydroxylysinecrosslinks betweentropocollagen molecules


119/138

How is hemoglobin structureregulated?

increased Cl-, H+, CO2, DPG,and temperature favor T form(low affinity of O2)--shiftingthe dissociation curve

to theright, leading to increased O2unloading

Most cells are in which cell

G0

cycle phase?

On what cellular stuctures are

flagella, cilia, mitotic spindles

microtubules found?

On which cells isphosphotidylcholine (lecithin)a major component?

- RBC membranes - myelin -bile - surfactant (DPPC-dipalmitoylphosphatidylcholine)- alsoused in the esterification ofcholesterol


120/138

Only the cytoplasmic side of

glycosylated lipids or proteins

membrane contains what?

The lower the Km, the(higher/lower/remains same)

higherthe affinity

What are the 2 forms ofhemoglobin?

What are the cell cyclephases?

-T (taut) form has low affininty foroxygen - R (relaxed) form has 300xhigher affinity for oxygen Hb exertspositive cooperativity and negativeallostery, accounting for thesigmoid-shaped O2 disassociationcurve (which myoglobin doesn't have)[Hint: When you're RELAXED, you doyour job better (carry more O2)]Mitosis (ProphaseMetaphase-Anaphase-Telophase) G1 (Gap orGrowth) S (Synthesis of DNA)G2 (Gap or Growth) G0(quiescent G1 phase)


121/138

What are the characteristicsof a microtubule?

What are the characteristicsof competitive inhibitors?

What are the characteristicsof noncompetitive inhibitors?

-cylindrical structure 24nm india and variable length - helicalarray of polymerized dimers ofalpha- and beta-tubulin (13 percircumference) - each dimer has2 GTPbound - grows slowly,collapses quickly - involved inslow axoplasmic transport inneurons-resemble substrates - bindreversibly to active sites ofenzymes - high substrateconcentrations overcomes

effect of inhibitors - Vmaxremains unchanges - Kmincreases compared tounhibited- doesn't resemble substrate -bind to enzyme but notnecessarily at active site -inhibition can't be overcome byhigh substrate concentration -Vmax decreases - Km remainsunchanged compared touninhibited

What cell cycle phases are

G1 and G0

variable in duration?


122/138

What drugs act onmicrotubules?

What drugs inhibits thesodium pump?

What is methemoglobinemia?

What is the differencebetween collagen fibril andcollagen molecule?

-mebendazole/thiabendazole (antihelmintic)

-taxol (anti-breast cancer) -griseofulvin (antifungal) cholchicine(anti-gout)-Ouabain inhibits the pumpby binding to the K+ site -cardiac glycosides (digoxin,digitoxin) also inhibit thepump, causing increasedcardiac contractilityblood disorder wheremethemoglobin, an oxidizedform of hemoglobin (ferric,Fe3+) that does not bind O2as readily. Iron in Hb isnormally in a reduced state(ferrous, Fe2+)

fibril is made of moleculescollagen fibril--many

staggered collagen moleculeslinked by lysyl oxidasecollagen molecule--3collagenalpha chains, usuallyof Gly-x-y (x and y = pro,OH-pro, or OH-lys)


123/138

What is the first step informing collagen from prolyland lysyl residues? Wheredoes it occur? What nutrientdoes it require?

What is the plasma

membrane composition?

hydroxylation endoplasmicreticulum vitamin C

-cholesterol (~50%,promotes membrane stability)- phospholipids (~50%) -sphingolipids -glycolipids proteinsWhat is the sodium pump?

Na-K ATPase

What molecules, how many ofthem, and in what directionare moved across the

3 Na go out and 2 K go inmembrane by the sodiumpump?


124/138

on the membrane, with theWhere is the sodium pump?

ATP site on the cytoplasmicside of the pump

Which cell cycle phase is

rapidly dividing cells have a

shorter in rapidly dividing

shorter G1 phase

cells?

Which cell cycle phase is

mitosis

usually shortest?

Arthralgia's, fatigue,headaches, skin changes,sore throat, alopecia are

Vit A (Retinal)symptoms foundin whatvitamin deficiency


125/138


126/138

What are the findings in Vit D

Hypercalcemia, loss of

excess?

appetite, stupor

What are the possible causesof hypercalcemia?

What are the signs andsymptoms of vit B12deficiency?

1. Vit D intoxication 2.

Malignancy 3.Hyperparathyroidism 4. Milk-alkali syndrome 5.Sarcoidosis 6. Paget's diseaseof bone1. Macrocytic megaloblasticanemia 2. Neurologicsymptoms-optic neuropathy,subacute combineddegeneration 3. glossitisWhat are the signs of Biotin

dermatitis, enteritis

deficiency and what are

antiobiotic use and ingestion

possilble causes?

of raw eggs


127/138

What are the signs of Folatedeficiency?

What are the symptoms in VitB5 deficiency

What are the symptoms ofPellagra

What are the usual causes ofVit B12 deficiency?

Macrocytic megaloblasticanemia sprue

dermatitis, enterititis,alopecia, adrenal insufficiency

3 D's Diarrhea, Dermatitis,Dementia, and also Beefyglossitis

1. Malabsorption- Sprue,enteritis, Diphyllobthriumlatum (Dr. Lohr's fishtapeworm) 2.lack of intrinsicfactor (pernicious anemia) 3.Absence of the terminalileum- Crohn's disease orsurgery


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What is the active form of

1,25 (OH)2 D3 = active form

Vitamin D?

What is the alternate name of

niacin Pellagra Hartnup

Vit B3, problems in

disease, malignant carcinoid

deficiency, common cause of

syndrome, and INH

defieciency

What is the alternate name ofvitamin B1 and what are thecharacteristic diseases of it'sdeficiency

Beriberi and Wernicke-Korsakoff syndrome

What is the folic acid

PABA is the precursor sulfa

precursor in bacteria and

drugs and dapsone are PABA

what antibiotics exploit this

analogs

fact?


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What is the form of vitamin Dconsumed in milk?

What is the form of Vitamin Dfound in sun-exposed skin?

What is the function andalternate name of Vit. B2

What is the function of Biotin?

D2 = ergocalciferol

D3 = cholecalciferol

cofactor in oxidation andreduction (FAD,FMN)RiboFlavin

Cofactor for carboxylations 1.Pyruvate to oxaloacetate 2.Acetyl-CoA to malonyl Co-A3. Prprionyl-CoA tomethylmalonyl-CoA


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What is the function of folicacid?

What is the function of Vit A,it's alternate name, and

symptoms in deficiency

What is the function of Vit B1

What is the function of Vit B6

coenzyme for 1-carbontransfer;methylation reactionsimportant for the synthesis ofnitrogenous bases in DNAand RNA

visual pigments (retinal)retinol night blindness anddry skin

it becomes ThiaminePyrophosphate (TPP) and isused in: oxidativedecarboxylation of Alpha-keto acids (pyruvate, Alpha-ketoglutarate cofactor fortranketolase in the HMP shunt

B6 (pyridoxine) is convertedto pyridoxal phosphate acofactore in transaminationreactions (ALT & AST),

decarboxylation, and transsulfuration


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antioxidant; especially inErythrocytes where it protects

What is the function of Vit E?

them from hemolysis Vit E isfor Erythrocytes

What is the function ofvitamin C?

1. Cross linking of collagen-hydroxylation of proline andlysine in collagen synthesiskeeping iron in the Fe2+reduced state making it moreabsorbable 3. Cofactor forcoverting dopamine tonorepinephrineWhat is the function of

increase intestinal absorption

Vitamin D?

of Calcium and phosphate

What is the function ofVitamin K?

catalyzes gamma-carboxylation of glutamicacid residues on variousproteins concerned withclotting.


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What is the most commonvitamin deficiency in the

Foilic AcidUnited States?

What is the rule of 2's for VitB2

What is the sotrage form ofVitamin D?

What is the source of Vit B12and what is B12's other name

2 F's, 2C's and 2ATP 2F's=FAD&FMN 2 C's =signs of deficiency cheilosisand corneal vascularizationoxidation of FADH2 leads to 2ATP

25-OH D3

found only in animal productscobalamin


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What is vit B5's function andalternate name

constituent of CoA, part offatty acid synthase. Cofactorfor acyl transfersPantothenate (Pantothen-A isin Co-A)

What manifestation is specific high output cardiac failureto wet beriberi?

(dilated cardiomyopathy)

What molecule in egg white

binds up Biotin and causes

Avidindeficiency

Neonatal hemorrhage withincreased PT increased aPTT,but normal bleeding time in

What problems do you see in

general, mild vitamin k

Vit K deficiency?

deficiency will prolong PT andhave normal PTT severe

deficiency will prolong PT and

PTT


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What scenerios are vit B

alcholism and malnutrition

defieciencies often seen in

What test is used to detect

Schilling test

B12 deficiency

What two general types of

Malabsorption syndromes

things will cause fat soluble

( cystic fibrosis and sprue)

vitamin deficiency

and mineral oil intake

What vitamins more

fat soluble vitamins b/c these

commonly cause toxicity and

accumulate in fat

why


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What water soluble vitamin

B12 which is stored in the

does not wash out easily from

liver

the body

What will a defieciency in Vit E

Increased fragility of

lead to?

erythrocytes

Where is B12 synthesized andstored

synthesized only inmicroorganisms storedprimarily in liver

synthesized by ntestinal flora

Where is Vit K synthesized

prolonged broad spectrum

and what is one cause of Vit K

antibiotic use can kill off the

deficiency?

flora can cause a deficiency


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Biochemistry - Side by Side

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