biochem II last minute Flashcards
function of acetyl CoA
activate pyruate carboxylase
inhibit pyruvate dehydrogenase
function of AMP
activate glycosgen phosporate and PFK1
function o fcitrate
activate acetyla CoA carboxylase
inhibit PFK1 and PFK2
function of F26bp
activaet PFK1
inhibit F16BP
function of F16BP
activat pyruvate
function o fmalonyl CoA
inhibit CPT I
limiations of fatty acids
require O2
can’t cross bbb
bulky
is the conversation of glucose to lactate in RBCs aerobic or anarobic
anarobic
what does liver do in the well fed state
convert exuss glucose into triglycerides for export
in the starvatino state what does the liver do
convert amino acids and fatty acids into glucose and ketone bodies
what can oral refeeding lead to diarrhea
supprots growth of insteinal microorganisms
how does insulin affect ketone body production
represses it by inhibition lipolysis and transport of FFA into mitochondria
how does insulin affect the synthesis of PEP carbosyln
decrease
how does the p450 enzyme affect heme
consumes it and increases heme synthesis
what causes AIP
deficency in porphobilinogen deaminase
symptoms of AIP
dark red urine
confusion
sharp abdominal pain
what is PCT caused by
defiency of UROD
symptom of PCT
urine is pink fluroence under UV light
what does lead inhibit
porphobilinogen synthase and ferrocheltase
what does bilirubin formation require
NADPH
what type of bilirubuin can cross the bbb
unconjugates
lab value for hepatocellular juandice
elecated levels of indirect bilirubin
what is hepatocellular jaundice caused by
hepatitis and acetominophin positiong
symptoms of cholesttatic juandice
pale feces and intense urine
what is the committed step in de novo purine synthesis
PrPP to PRA via amindophosphoribsyltransfase
what type of bilirubin is present in cholestatic juandice
conjuaged in urine
what are teh control points in de novo purine nucleotide synthessis
IMP dehydrogenase
adenylosuccinate synthase
PRPP synthase
amindophoribosyltransferase
what inhibits PRPP synthase
ADP and GDP
what inhibits amidophosphoribosyltransfase
AMP and GMP
increases in PRPP has what affect on purine synthesis
increases
what is the end product of purine metabolism
uric acid
what do you use allopurinal for
treat hyperuricemia by compeptively inhibiting xanthine oxidase
what causes orotic acidura
defect inUMP synthease
what does CTP synthase use as an amino group donor
glutamine
what does the converstion of NDP to dNDP require
NADPH to reduce thioredoin
what is the precurosre of dTMP
dUMP
what catalyzes the reaction between dUMP and dTMP
thymoylate synthase
function of 5-fluorouracil
inhibit thymidylate synthase
what does degration of pyruide nucletodie yield
beta-amino acids
beta aminoisobutyrate production is uiqure to waht
thymine degration
what do you need for the syntehsis of IMP and GMP
HGPRTase
what do you need for the syntehsis of AMP
APRTase
what is the only purine that can be directly phosphorylated to regen a nucleotidue
adosine
what casues lesch-nyan syndrome
HGPRT defiency
what case is not salvaged in humans
cytosine
what are the lab values for kidney disease
urea/creatine levels increases in serum
function o falbumin
binding of hydrophobic molecules
binding o fcalum
maintaince of onocotic pressure
what is c reactive protein a marker of
acute metablic response to injury
what is increass alkaline phosphatase indicative of
bone or liver disease
during fasting what does adipose tissue export
fatty acids ang glycerol
during fasting what does liver export
glucose, ketone bodies
during well fed state waht does liver export
VLDL
chronic EtOH consuption stresses the lvier how
by oxidative stress from hydrogen peroxide
DNA damage from hydroxyethyl production produces mutations and predisposes to cancer
what casues hereditaty hemochromatosis
muations in HFE gene
how is glutathione peroxidase involved in radicals
uses electrons from GSH to reduce hydrogen peroxide
vitamin A
lipid solube compound that acts as an electron donor for reduction of radicals such as lipid peroxides
polyphernols
water soluble antioxidants that are in plants
methemoglobin reducase
works in RBCs by replacing electrons to iron in heme, does not bind oxygen
what is a good marker for oxidative stress
plasma malondaldehyde conc
how does hydroxyl radical affect DNA
makes double stranded breaks
peroxynitritate
convalently modifies lipids, DNA, proteins
chromatin
DNA + Protein
nucleosome
histone with DNA wrapped around it
heterochromatine
intenly stained
highly condesne
transcriptionally inactive
conentrated at peripheral of nucleus
euchromatin
translucent
transcriptionally acitve DNA
how are the majoirty of mRNA molecules exported from nucleus
via ran-independt mechanism
how do polymerases synthesize DNAi
n the 5’ —> 3’
direction
how do doxorubin, nalidixic acid and ciprofloxan work
affect topisomerase II
topiosomerase I
cut phosphodiester back 1 strand of DNA
topismase II
manipulate 2 helices
what helps keep DNA mistakes low
3’ —> 5’ exonuclase activity o fDNA polymerase delta
what casues HNPCC
defect in mismatch repari
DNA glycosylases
recognize altered bases and catalyze ther removal
nucleotide excision repair
fixes damage caused by agents that result in large changes of structure of DNA
xeroderma pigmentosum
caused by mutation in nucletoide exicision
how does cytarabien work
compete with deoxyribonucleotides for binding to DNA polyermase
how does cyclophophamide work
alkylating agent
what do you use cyclophosphamide for
treat hodkin’s lymphoma
what does TBP do
bind to TATA box and act like sign post for other transcriipin element
what do GC-rich regions bind to
SP-1
what does CAAT bind to
NF1
what is prerequist to transcription
extensive chromatin remodeling
how does rigampicinc work
RNA polymerase
what causes beta thalessmia
incoorrect splicing
how do you get PKU
single base change in 5’ splice donor site of a interon, leading to truncating proted
HAT
acetylate lysine rediue in histone
decrease charge and stregth of interaction w/DNA
HDACs work how
catalyze removal of acetyl groups from histine
function of HDACs
inhbiti transcription
symptoms of rubinstein taybi
intellectual disability other abnormali
what causes rubinstein taybi
mutation in genes encoding CP and EP300
how does tamozifen work
competitive inbitor of estrogen in breast caner treatment
what can ionine pair with
A c and U
where do you fine inonie
tRNA
how does streptomycin work
bind to small subinit and inhibit initation
neomycin and gentamicin work how
bind to ribosomes and cause mistranslation of protesin
wha tdoes phosphoraultion of elf-2 do
render intiation factor inactive and shut down traslation
what do congenital disorders of glycosylation do
impair N linked glycosylation o fproteins
what causes charcot marie tooth diease
mutation is HSP
HSP
chaperaons that repair proteins damaged by heat
O - linked glyosylation
glycosylatransferase tranfer N-acetyl galactosamine to hydroxyl group of serine or theronin
what causes MSD
failure to convert cytein to formylglyine
what is the first amino acid to be incorproated into aprotein
methionine
what causes I cell diseeaes
tranfer of phosphate to mannose is impaired
function of E3
indenfiy protein for ubination
M phase cycline
cylcine A/CDK1
clyin B. CDK1
mid G1 cycline
cyclin D/CDK4
cyclin D/CDK6
late G1 cycline
cyclin E/CDK2
s cycline
cyclin A/CDH2
what degrates cycline
ubiquitin dependent protelysis
what is the key targe tfor cycline D/CDK4/6
rb
function of RB
binds to E2F protens, making them act as transcriptional repressors
INK4
act as specific inhibitors of CDK4/6
p21KIP1
forms a complex with cyclin A/CDK2
what is the most important driver of events leading to mitosis
CDK1
what activates ATM
double stranded DNA breaks
waht acitvates ATR
DNA damage caused by UV light, and certian drugs
what does ATM/AtR do
acitvate clycin/cdk2 and cycline 1 compelxes
wha tdoe p21cip1 do
inhibit both cyclin cdk1 and cyclin cdk2 compelxes
what casues ataxia telagiensus
muation in gene encoding for ATM
what are gain of function muations usually
dominatn
what is function of c-fos and c-myc
protooncogens
what casues burkitts lymphma
transloaction on chromsone 8 and 14
normal fucntio of Rb
inhibit cell cycle progession
how does oncotoic p53 mutrate
dominate neg mutation
what does NF 1 foloow
2hit model
function of BRCA1 and BRCA2
caretaker geners that repair double stranded DNA breaks
chromosomes that lack telmoerse seuqences do waht
breakage/fusionbride cycle that leads to chromsomal instability
what does FAP result in
continued expression of WNT pathway
what muation is found in 80% of sporadic colon cancers
APC
what muation casues HNPCC
defect in MSH2 or MLH1
philadephia chromone caused by transolation between what chromosomes
9 and 22
what do imatinib, niltibnic, dasatinb do
inhbiit BCR/abl
what does rituximab treat
non hodkins lymphoma
what does benacizumbab treat
colon and lung cancer
what does p53 do
stop progession into the S phase when DAN has been damged
acontiase
reulate transcription by recognizion of start codon on mRNA
durin gthe initaiton of translation what does the ternary compelx byind to
small ribosome
what does telmerase do
add short stretch of DNA
cytochorme c
component of apoptosis cascade
what casues trinucleotide repeats
incorrect recomination
funciton of pol A tail
stabilize mRNA
what does ubiqutin depend protlysis inhbiit
cyclin A CDK1/2 and cycline B CDK1
when is poly ubiquiation of protein required
targeting of protein to protseome
when is recessibe inherience mostly observed
defect of enzymes and proteins invovled in transport ans storage
loss of functio of RET gene
hierschpung
game of function f FET gene
MEN
what causes LHON
muation on ND1 gene
chimeric BRC/ARB can cause waht
chronic myelgous leukima
pattern of DNA methylation is mainted through mitosis but what
DNA methl transferase DNMT
what casues rett disease
muation in MBPs (XD)
what do methlated histones bind to
HPi protein
what do HPI protein bind to
histpone methylase
when do you use HDAC idnhbiotrs
treat chornic lymphocytic leukemia
when do you use DNMT inhbitors
acute myeloums leukmima
deformation
extrsincic influence on development
disruptive
distreuction of tissue
symptom of patuae
cleft palate
polydayl
heart diesae
edwands is caused by waht
nondisjunction
what is the most common cause o fpatuea
13/14 unbalanced transloation
symptom of turner
nuchal webbing
puffy hands and feet
short