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2-1 Biochemistry

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q123456's version from 2016-06-01 16:45

 

Question Answer
VimentinConnective tissue (Sarcomas, some Carcinomas)
DesminMuscle (Rhabdomyosarcoma or Leiomyosarcoma)
CytokeratinEpithelial Cells (Squamous Cell Carcinoma)
GFAP (Ectodermal)Neuroglia (Astrocytomas like Glioblastoma)
NeurofilamentsNeurons (Adrenal Neuroblastoma)
MicrotubuleDrugs: mebendazole, griseofulvin, vincristine, paclitaxel and colchicine
Disease:
1) Chediak-Higashi Syndrome
2) kartagener syndrome
retrograde axonal transportdynein +>>>-
KA34-24
microtubules
Herpes
poliovirus
rabies
tetanus
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Question Answer
genes and cancersP53, RB=HPV cervical cancer
c-myc=burkitt
APC=Familial adenomatous polyposis coli
P16=melanoma
WT1=Wilms tumor
NF1=RAS
Vitamin B6amino acid>>>ketoacid
heme synthesis
glycogen phosphorylase
cystathionine synthesis
Niacin synthesis

INH: Lower vitamin B6 KA35-45
Vitamin B1Pyruvate deh
ketoglutarate deh
Transketolase
branched chain AA dehydrogenase
Vitamin B12Homocysteine >>>Methionine
L-Methylmalonyl-CoA>>>Succinyl-CoA (Methylmalonyl-CoA mutase)>>>TCA cycle
Vitamin EIncreased fragility of erythrocytes>>>hemolytic anemia
BiotinPyruvate carboxylase>>>OAA,
Acetyl-CoA carboxylase>>>malonyl-CoA (biosynthesis of fatty acids)
Propionyl-CoA carboxylase>>>methylmalonyl CoA
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Question Answer
orotic aciduriaorotic acid phosphoribosyltransferase or OMP decarboxylase, AR, high orotic acid w/o hyperammoniemia.
***OTC deficiency: high orotic acid w/ hyperammoniemia
Interfering with purimidine synthesisUDP>>>dUDP, hydroxyurea, ribonucleotide reductase
6-mercaptopurine, purine synthesis
dUMP>>>dTMP, 5-fluorouracil, thymidylate synthase
DHF>>>THF, methotrexate and trimethoprim, dihydrofolate reductase
Interfering with purine synthesisadenosine deaminase (excess ATP>>>inhibition of ribonucleotide reductase>>>prevents DNA synthesis)
Lesch-Nyhan Syndromeabsence of HGPRT (defective purine salvage)
self-mutilation (lip biting)
hyperuricemia
gout
x linked
severe hyperuricemia and gout-------------------
1) Glucose-6-phosphatase deficiency (glucose 6-phosphate >>>the pentose phosphate pathway>>>ribose 5-phosphate>>>PRPP synthetase).
2) HGPRT deficiency
3) Elevated PRPP synthetase activity (Mutations in the PRPS genes >>>superactivity >>> increased levels of PRPP.>>>de novo synthesis of purine nucleotides in excess of the needs of the body>>>elevated production of uric acid
-----------------
urea cycleOrnithine-->citrulline-->Argininosuccinate-->arginine-->urea
Carbamoyl phosphate synthetase I
Ornithine transcarbamoylase (OTC)
urea cycle disorders:
treatment: supplemental arginine (except arginase deficiency) >>>ornithine>>>ornithine+aspartate+NH4+>>>argininosuccinate (less toxic and more excreted than Ammonia)
*** Ammonia: excess NH4+ depletes a-ketoglutarate>>>inhibit TCA cycles (treatment: low protein in diet and benzoate and phenylbutyrate, bind to AA and excretion)
fatty acidacyle CoA dehydrogenase: fatty acid oxidation
acyle CoA carboxylase: fatty acid synthesis
KA35-14
KA37-21
Ketogenesis HMG CoA synthetase/lyasewhen too much ATP, in liver mitochondria, FA>Acetyl-CoA>HMG CoA>Acetoacetate>3-hydroxybutyrate
gluconeogenesisPyruvate carboxylase(Biotin)
Phosphoenolpyruvate carboxykinase (GTP: succinyl CoA synthetase)
Frucose 1,6 BP
Glucose 6 P
precursors of gluconeogenesisalanine, glycerol and Fatty acid
G0 negativefavorable reaction
alcoholics1) HIGH NADH/NAD+ ratio in liver>>>inhibit glucogeogenesis and FA synthesis>>>hypoglycemia and hepatic fatty change
2) B1 deficiency: pyruvate dehydrogenase deficiency (treatment: increase lysine and leucine)
3)KA34-7,KA33-48
H2O2>>>H2OGlutathione peroxidase (catalase) KA31-9
Oxygen>>> superoxide anionNADPH oxidase
superoxide anion>>>H2O2Superoxide dismutase
H2O2>>> hypochlorous acidMyeloperoxidase
G6PD deficiencyx linked
Heinz body in RBC: aggregates of denatured hemoglobin KA31-26
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Question Answer
DNA Poly Idegrades RNA primer
DNA Poly IIIelongagtes DNA Strand
acetylationeuchromatin, high transcriptional activity
methylated DNAHeterochromatin, low transcriptional activity
16s rRNAa nucleotide sequence complemetary to an mRNA sequence
23s rRNApeptidyltransferase
purinesG/A
glycine/glutamine/aspartate
PyrimidinesU/T/C
aspartate/glutamine
nucleotide excision repairxeroderma pigmentosum
mismatch repairHNPCC
RNA polymerase IImRNA
mRNACapped, tailed and splicing out of introns, all in nucleus
*** patients with lupus make antibody to spliceosomal snRNPs
KA34-3
tRNA WobblemRNA coden 3rd (tRNA anticoden 1st)
5'-CCA-3' (Amino acid binding), Aminoacyl-tRNA synthetase (uses ATP)
*tRNA translocation uses GTP
*Peptidyltransferase: transfers growtng polypeptide to aa in A site
X linked dominantDad>>>Daughters
X linked recessivecarrier M>>>SON, affected Dad can not affected any offspring
mitochondrial inheritanceMom affects any offspring *** AD
pericentric inversionKA23/6
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Question Answer
essentialgluco: Met, Val, Arg, His
ketoge: Leu,lys >>>acetyl-CoA>>>ketone bodies.
both: Ile, Phe, Thr, Trp
Fphenylalanine
YTyrosine
W Tryptophan
D aspartic acid
E glutamic acid
Nasparagine
Q glutamine
K lysine
R arginine
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Question Answer
PhenylketonuriaPhenylalanine hydroxylase deficiency
low THB
musty body odor
AlkaptonuriaHomogentisic acid oxidase deficiency
black urine and dark ear, joint pain and stiffness
Albinismtyrosinase deficiency
HomocystinuriaCystathionine sythetase deficiency or vitamin B12 deficiencyhistone
Low IQ
downward lens dislocation
mega anemia
arterial and venous thrombosis
acute myocardial infarction
chest pain
Cystinuriadefective renal tubular amino acid transporter for Cysteine, Ornithine, Lysine, Arginine
Hexagonal crystals & renal staghorn calculi
tx: Acetazolamide
Maple Syrup Urine Diseasealpha ketoacid dehydrogenase deficiency
Ile, leu, Val
urine smells like maple syrup
Hartnup diseasedefective neutral AA transporter on renal & intestinal epithelial cells (esp Tryptophan) >>>Niacin deficiency
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Question Answer
CT images of SER and RERSER: Steroid synthesis
RER: Secretory protein
pleiotropyOne gene>>>multiple phenotypes KA35-35
*locus heterogeneity: one phenotype>>>different loci
Genomic imprintingA parent-of-origin-specific manner
DNA Molecule methyation
Active transport (ATP)Na/K ATPase, H/K ATPase(synthesis of HCl) and Ca ATPase
A marker for the extracellular spaceinulin
inulin space-plasma volume=interstitial fluid volume
Mutation of PRPP Synthetase geneJoint pain
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Question Answer
What prevent repressor from binding operator?lactose
Repressor binds the operator preventing binding of RNA polymeraseThe mutation of the operator may causes elevated beta-galactosidase
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Question Answer
Which of the processes occurs outside of the osteoblast during collagen synthesis?C/N terminal propeptide removal
Which of the processes occurs in ER during collage synthesis?Glycosylation, Hydroxylation and Assembly into triple helix
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Glycogen Storage diseases

Question Answer
Von Gierke's Dz (type I)deficient Glucose-6-Phosphatase in Liver & Kidney
Pompe's Dz (type II)deficient Lysosomal alpha-1,4-glucosidase
Cori's Dz (type III)deficient debranching enzyme (alpha-1,6-glucosidase)
McArdle's Dz (type IV)Glycogen phosphorylase in Skeletal Muscle
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Glycogen Storage diseases

Question Answer
Von Gierke's Dz (type I)severe fasting hypoglycemia
G6Pase def prevents both glycogenlysis and gluconeogenesis from happening, no source for glucose during fasting
high glycogen in liver
high blood lactate
gout
Pompe's Dz (type II)Cardiomegaly, early death
Cori's Dz (type III)fasting hypoglycemia with normal levels of blood lactate (milder type I)
McArdle's Dz (type IV)increased glycogen in muscle; severe muscle cramps, myoglobinuria with strenuous exercise, normal life span
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Lysosomal Storage Diseases, Sphingolipidoses/Mucopolysaccharidoses presentation

Question Answer
Gaucher's DzKA 34-44
young adult patients
Acid beta-D-glucosidase (Glucocerebrosidase)
easy bruising, bleeding, hepatosplenomegaly, pancytopenia
bone marrow biopsy: enlarged cells resembles tissue paper
Gaucher's cells (crumpled up tissue macrophages)
Niemann-Pick DzCherry-red spot on macula
hepatosplenomegaly
Sphingomyelinase
Sphingomyelins
Tay-Sachs DzCherry-red spot on macula
NO hepatosplenomegalyHexosaminidase A
GM2 Gangliosides
Krabbe's Dzoptic atrophy
globoid cells (multinucleated macrophages)
Galactocerebrosidase
Galactocerebrosides
Metachromatic Leukodystrophycentral & peripheral demyelination w/ ataxia, dementia
Arylsulfatase A
Cerebroside sulfate
Fabry's Dzangiokeratomas X linked
alpha-galactosidase A
Ceramide Trihexosides
Hurler's syndromecorneal clouding
alpha-L-iduronidase
Heparan/Dermatan sulfate
Hunter's syndromeaggressive behavior (NO clouding)
X-linked
Iduronate sulfatase
Heparan/Dermatan sulfate
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