Where does the phosphorylated mannose get trasnported to from the Golgi?
Describe Glycogenolysis in the muscle and liver with Glucagon epinephrine and what they act on
In the muscle it starts with muscle contraction. this works via Ca+2 via phosphorylase kinase
muscle contraction -->Ca--> phosphorylase kinase
Muscle also has Epi receptors that work through cAMP --> Protien Kinase A --> glycogen phosphorylase kinase
What all is Collagen made of? most abundant amino acid?
Collagen is made up of alpha chains that form triple helix via hydrogen bonds
Glycine most abundant
followed by luecine and proline
which enzyme has exonuclease and whats the function of that enzyme?
DNA polymerase III and it synthesizes DNA along with proofreading for mismatches in the gena
If a person is acidotic, due to increased NADH which enzyme is increased / decreased
Lactate dehydrog is increased (lactic acidosis)
Pyruvate to Acetyl coa is decreased (nadh means you dont have many dehydrogenase reactions going on)
Whats wrong in HbS?
Sickle cell anemia
allows hydrophobic reaction among the Hb which leads to sickling
Which enzyme turns NE to Epi? what is this stimulated by?
Cortisol stimulates this
What is heme first metabolized to? whats the enzyme? and why does it turn Green?
Heme ----Heme oxygenase--->Billeverdine (green)
what causes Right shifts in the O2 dissociation curve?
incr. H+/ 2,3 BPG / Temp(excercise)
What amino acid is important for maximizing acid secretion in the urine?
How long does it take for B12 stores to deplete?
how do you geet b12 deficiency
Vegan for a long time / Gastrectomy for a long time (pernicious anemia) / Diphthoryloborium (tapeworm)
Insulin activates _____ to stimulate glycologen synthesis
what are the stop codons?
(you go away)
Whats the function of phospholipase C, IP3
PLC cleaves PIP2 into Dag & IG3
IP3 opens sarcoplasmic reticulum to release Ca+ which activates Phosphokinase C
in regards to maintainng glucose, what helps pyruvate fit into gluconeogenesis. whats a necesary cofactor?
Pyruvate has to be turned into Oxoaloacetate first
the cofactor is Acetyl Co A
when heme binds oxygen, it must first release ____ and _____ which then get converted to ______
H+ and CO2
gets converted to bicarb
whenever you get high oxygen affinity (left shift) hemeglobin what is the sequela that follows?
reduced ability to deliver O2---> hypoxia ---> EPO synthesis ---> Erythrocytosis
Which amino acid is responsible for transfering nitrogenous waste to the liver?
in the liver what amino acid is responsible for disposal of nitrogenous waste?
what enzyme is responsible for turning alanine into glucose vice versa
baby cant sit up w/o support, cant hold head up, neuronal regression (loss of social smile), cherry red macula, hepatosplenomegaly
Nieman pick dz
(not to be confused with Tay sachs = no hepatosplenomegaly)
smells like burnt sugar
diet restriction and treatment?
Maple syrup dz
I Love Vermont maple syrup from tree B1anches
Isoleucine, Luecine, Valine
supplement with B1 (Thiamine)
what is sucrose made of?
Fructose and glucose
whats the substitution for sickle cell?
Glu -> Val
Where does the amino acid bind to on tRNA
the CCA tail
tRNA looks like a clover leaf
Pee turns black after being left out for a while.
whats the dz, whats the deficiency, enzyme, accumulation
Tyrosine -->Homogentisate---HAD--> Fumarate
homogentisic acid dehydrogenase
accumulation of homogentisate
function of SER
synthesis of Steroids and cholesterol
G coupled protein receptor, what part makes up the anchoring system
non polar, hydrophobic amino acids
does cortisol work in the cytoplasm or surface membrane?
What are the functions of NADPH
Reduce (good) Glutathione
Fatty acid, steroid, cholesterol Synthesis
Whats Acute intermitent Porphyria
how do you treat it?
Its a fuck up of Heme synthesis
associated with PBG deaminase /
ALA synthase *rate limiting*
tx by inhibiting ALA synthase via heme or glucose
5 ps: Painful abdomen, Port wine pee, psych probs, polyneuropathy, precipated by drugs, alc, starvation
What are zinc fingers? where are they and what do they bind to?
These are in the ctyoplasm that bind to the DNA for transcription
Steroids (estrogen, aldosterone, cortisol), thyroid hormone, fat soluble vitamins
Where does insulin act on? what receptor and what tissue?
Skeletal Muscle and adipocytes
what enzyme is fucked up in lead poisoning
whats a cofactor of the reaction that turns Phenylalanine into Tyrosine
Phenylalaine ---Phenylalanine hydroxylase-->tyrosine
it uses BH4 / Dihydrobiopterin
defect in B- oxidation (fat degredation)
where does it occur/ whats the enzyme/ lab findings
Fat degredation (B-oxidation) occurs in the mitochondria
the enzyme is Acy-CoA dehydrogenase
what kind of anemia is stained prussian blue? which drug can cause this anemia?
Isoniazid due to B6 (pyridoxine) deficiency
What are the types of hemoglobin
What does sorbitol get broken down to in healthy individuals?
whats the reaction and enzymes
glucose--Aldose reductase-> Sorbitol --sorbitol dehydrogenase--> Fructose
what does galactosemia predispose to?
E. coli infections
where does microRNA/Small interfereingRNA act on? and what do they do?
These are used to induce Posttranscriptional Silencing of genes
What causes lactic acidosis
whats the primary site of lactate clearance?
it can be a sequela of septic shock due to hypoxia which impairs OX-phos causing a shunting of pyruvate to lactate
whats the enzyme after g6pd?
turns Ribose-5-p to Fructose-6-p
Which vitamin gets deficient when you eat a bunch of raw eggs?
what reactions does this fuck up
Fructose 2,6 bisphosphonate
Insuline increases F26B which inihibits glycolysis
Glucagon decreases F26B which stimulates gluconeogensis
What do RAS proteins bind to?
What is the process where a single gene is recombined in different ways that produce different proteins?
Alternate RNA Splicing
Whats the deficiency in Pompe dz
what findings will you see
its a Glycogen storage dz
Pompe trashes the pump (Cardiomegaly)
Glycogen in lysosomes
What are the reactions that occur in the cytoplasm
HMP (pentose phosphate)
Fatty acid Synthesis
Whats special about Primase
its a DNA dependent RNA Polymerase
capable of making Uracil
Where is ketone metabolism and which tissue cant use them
how do erythrocytes get their energy since they dont have mitochondria
Via glycolysis but they have to make 2,3BPG
which enzyme neutralizes free radicals in cells
Whats the Wobble hypothesis
This says how tRNA can bind to two different codons due to the 3rd letter haveing wiggle room.
ie. 2 separate codons can code for the same protien
CUC / CUU
because the first two letters are the same. the last has wobble room
Which enzyme is responsible for moving short fragments of RNA primer? how does it read?
DNA polymerase I
Whats ristocetin and how do you use it to differentiate between vWF dz and Bernard souiller
Ristocetin measure vWF because it activates the Glycoproten Ib (GP Ib) making it available to bind to vWF
two part test (in a patien with vWF deficiency)
1)so if you add ristocetin and it doesnt aggregate
2) add in normal plasma to sample and it does aggregate
in a patient with Bernard soullier
1) add ristocetin and doesnt aggregate
2) addition of normal plasma doesnt aggregate
which substance inhibits B-oxidation in a well fed state
Which ezyme helps breakdown fructose when you have a fructokinase deficieny
whats the difference between Germline mosacism and somatic?
Germline mosaicims means 2 normal parents give birth to affected kids
Somatic mosaicism means an affected parent has normal kids
What is a luecine zipper?
2 alpha helical
Luecine in every 7th position
its a TRANSCRIPTION FACTOR
What are the dz associated with VHL
RCC, hemangioblastoma, Pheo