Biochem Flashcards
leukotriene targeted drugs
montelukast
zileutin
Rb
tumor suppressor
osteosarcoma, retinoblastoma
Niacin side effects
flushing of the face
can be aleviating by taking aspirin
Cystinuria
AR
defect in aa transporter for
cysteine, orthithine, lysine, arginine
recurrent stones
Chediak-Higashia syndrome mechanism
microtubule polymeraization defect leading to decreased phagocytosis
vincristine
Mphase specific
prevents microtubule polymeralization
Chediak HIgashi syndrome symptoms
recurrent pyogenic infections
partial albinism
vit c
proline hydroxylation in collagen synthesis
McArdle’s disease
AR
glycogen phosphorylase
increased glycogen in muscle that can’t be broken down
painful cramps, myoglobinuria
RNA polymerase I
makes rRNA
RNA polymerase II
makes mRNA
RNA polyermase III
makes tRNA
alpha-amanitin
inhibits RNA polyermase II
Kwashiorkor
protein malnutrition (tryptophan and lysine) Malnutrition, Edema, Anemia, Liver
21-hydroxylase def
decreased mc: hypotension, hyperkalemia
pseudoherm in females
17alpha-hydroxylase def
increased mc: hypertension, hypokalemia
males: ambiguous genitalia/undescended testes
females: normal, lack 2 sex characteristics
11b-hydroxylase def
decreased aldosterone, increased c: hypertension
masculinization
rate limiting enzyme of fatty acid synthesis
acetyl-CoA carboxylase
treatment for uterine leiomyomas
GnRH agonist/leuprolide
sympathetic alpha one
increases vascular smooth muscle contraction
Gq (phospholipase c)
phospholipase C
PIP2 –> Dag and IP3
DAG
protein kinase 3
IP3
Ca –> smooth muscle contraction
sympathetic alpha two
decreased sympathetic outflow
qi (adenylyl cylase)
adenylyl cyclase
Camp –> protein kinase a
protein kinase a
increased ca in heart
myoslin light chain kinase (smooth muscle)
sympathetic beta one
increased heart rate, contractility adenylyl cyclase (gs)
sympathetic beta two
vasodilation, bronchodilation
increases HR and contractility
Gs (adenylyl cyclase)
Niacin/B3 def
diarrhea, dermatitis, dementia
fatty liver in alcoholics
increased NADH:NAD ratio
first step of urea cycle
occurs in hepatocyte mitochondria
ornithine + carbamyl phosphate –> citrulline
Hartnup disease
AR
defective neutral amino acid transporter
tryptophan excretion in urine, can lead to pellagra
I cell disease
addition of mannose-6-phosphate to lysosome proteins
mannose-6-phosphate
add to traffick to lysosomes
nitroprusside
cyanide toxicity (cherry red lips)
mechanisms of cyanide toxicity
inhibit mitochondrial cytochrome oxidase
binds ferrous ion in hemoglobin
hereditary nonpolyposis colon cancer
mismatch repair defect
alpha ketoacid dehydrogenase def
maple syrup urine disease (AR)
homogentistic acid oxidase def
alkaptonuria (AR)
decreased phenylalanine hydroxylase
PKU (AR)
decreased tetrahydrobiopterin cofactor
PKU (AR)
cystathionine synthase def
homocystinuria (AR)
homocysteine methyltransferase def
homocystinuria (AR)
requires B12!
Maple Syrup Urine Disease
blocked degradation of branched AA (Ile, Leu, Val)
decreased alpha ketoacid dehydrogenase
electron carriers
NADH
NADPH
FADH2
acyl group carriers
coenzyme A
lipoamie
1 carbon unit carriers
tetrahydrofolates
aldehyde carriers
TPP
Ch3 carriers
SAM
Co2 carriers
Biotin
NAD+/NADP+ vitamin
B3
FAD+ vitamin
B2
NAD+ used in
catabolic processes
NADPH used in
anabolic processes
respiratory bust
p450
glutathione reducase
Li-Fraumeni syndrome
p53
Lesch-Nyhan syndrome
def in purine salvage due to absence of HGPRT results in excess uric acid production and de novo purine synthesis
Lesch-Nyhan syndrome transmission
x linked recessive
Lesch-Nyhan symptoms
retardation, self mutilation
hyperuricemia/gout
B12 def
choreoathetosis
donepezil
ache inhibitor (alzheimer’s treatment)
hypertriglyceridemia treatment
fibrates (increase activity of lipoprotein lipase)
hexokinase
high affinity/low Km
low Vmax
inhibited by g6p
glucose –> glucose 6 p
hexokinase or glucokinase
glucokinase
Liver and B cells of pancreas
low affinity/high Km
high Vmax
induced by insulin
SGLT location
enterocytes, nephrons
GLUT-1
insulin independent
RBCs, brain
GLUT-2
bidirectional
B islet cells, liver, kidneys, small intestine
GLUT-4
insulin dependent
adipose and skeletal tissue
phosphorylation of mannose residues location
cis Golgi
renal gluconeogenesis
fructose-1,6,-biphosphatase is rate limiting
Southern Blot
DNA
Northern Blot
RNA
cardiolipin
phospholipid on inner mitochondrial membrane
syphilis has Abs against
rate limiting step of glycolysis
fructose 6 phosphate to fructose 1,6 bisphosphonate
PPFK
citrate inhibits PPFK
homocystinuria vitamin link
B6 as cofactor
porphobilinogen deaminase def
acute intermittent porphyria
Wernicke’s Aphasia
located in left superior and middle temporal lobe
speak but make no sense
endothelial cells normally have
NO, prostacyclin to prevent plaque formation
S phase of cell cycle
DNA is synthesized
PCOS treatment
spirolactone
accumulation of cerebroside sulfate
metachromatic leukodystrophy/def of airsulfatase A
urinary reducing substances
galactosemia
symptoms of maple syrup urine disease
hypoglycemia
CNS defects, death
V2 Receptor
Gs (adenylate cyclase)
ACEI and g proteins
decreases Gq activity
location of rxns of glycogenesis and glycogenolysis
cytoplasm
Beta blockers not given with cocaine use
unopposed alpha effects
paclitaxel
m phase, disrupts mitotic spindle
Hemoglobin left shift
decreased H, 2,3DPB, temp
Radiation
DNA ds breaks
formation of free radicals
telomerase
RNA dep DNA polymerase
TTAGGG
added by telomerase
hypoglycemia, hypoketonia
MCAD def
acyl-coa DH
Vitamin A toxicity
skin changes
hepatic injury
Essential fructosuria
asymptomatic, AR
defect in fructokinase
fructose appears in blood and urine
Biotin required for
pyruvate, acetyl coA, propionyl, and betamethylcrotonyl coa CARBOXYLASE
acid alpha glucosidase
Pompe’s disease (lysosomal)
pantothenic acid
coenzyme A
TCA cycle first step
coenzyme A + oxaloacetate –> citrate (citrate synthase)
HMP shunt
source of NADPH from glucose-6-phosphate
no ATP used
locations where HMP shunt happens
lactating mamary glands
liver
adrenal cortex
RBCs
endothelial dependent vasodilation
NO from arginine
Xeroderma pigmntous
defect in UV endonuclease
stop codons
UAA
UAG
UGA
aldolase B
fructose intolerance
decrease intake of both fructose and sucrose
rRNA synthesis location
nucleolus
galactoyl B-14 glucose
lactose
transfer tRNA
3’ CCA tail
thymidine
TNF alpha activates
serine kinases
treatment of measles
vitamin A
vit def and cardiac symptoms
beriberi/vitamin B1
PRPP
accumulates in leesch-nyhan
homeobox
transcription regulators
thyroid hormone - type of receptors
nuclear
myc
transcription factors
long fatty acid and amino acid synthesis location
peroxisomes
orotic aciduria
defect in UMP synthase/can’t convert orotic acid to UMP
megoblastic anemia
desmin stain
muscle
vimentin stain
connective tissue
cytokeratin stain
epithelial cells
GFAP stain
neuroglia
cardiac glycosides
inhibit Na/K ATPase
type I collagen
bone, skin, tendon
type II collagen
cartilage
type III collagen
reticulin
type IV collagen
basement membrane or basal lamina
prader willi syndrome
paternal allelle not expressed
hyperphagia, obesity
angelman’s syndrome
materinal allele not expressed
inappropriate laughter
mitochondrial myopathies
myopathy and CNS disease
ragged red fibers
PKD1
chromosome 16
APC gene
chromosome 5 ( 5 letters in polyp)
NF1
ch17
NF2
ch22
CFTR gene
ch7
Cri-du-chat
microdeletion of short arm of chromosome 5
VSD
fissures at corner of mouth
Vit b2/riboflavin
niacin derived from
tryptophan
biotin def
excess ingestion of raw eggs (avidin)
vitamin b9
folic acid
SAM composed of
ATP and methionine
depends on vitb12 and folate
homocysteine converted into
methionine
dopamine B hydroxylase
dopamine –> NE
need vitamin c for rxn
D3
cholecalciferol
milk, sun exposed skin
alcohol DH
cytosol
ethanol –> acetaldehdyge (requireds NAD)
acetaldehyde DH
mitochondria
acetaldehyde –> acetate (requires NAD)
fomepizole
inhibits alcohol DH
disulfiram
inhibits acetaldehyde DH
marasmus
muscle wasting
what happens in cytoplasma
glycolysis
fatty acid synthesis
HMP shunt, cholesterol synthesis
protein synthesis -RER, steroid synthesis on SER
what happens both in mitochondria and cytoplasm
HUG
heme synthesis, urea cycle, gluconeogensis
glyclosis rate limiting enzyme
PFK-1
gluconeogensis rate limiting enzyme
fructose 1,6 bisphosphatase
TCA cycle rate limiting enzyme
isocitrate DH
glycogen synthesis RLE
glycogen synthase
glyocenolysis RLE
glycogen phosphorylase
HMP shunt RLE
G6PD
de novo pyrimidine synthesis RLE
carbamoyl phosphate synthetase II
de novo purine synthesis RLE
glutamine-PRPP amidotransferase
urea cycle RLE
carbamoyl phosphate sythetase I
fatty acid synthesis RLE
acetyl coa carboxylase
fatty acid oxidation RLE
carnitine acyltransferase I
ketogensosi RLE
hmg-coa synthase
cholesterol synthesis RLE
hmg-coa reducatase