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Biochemistry

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1. cell signaling defect of fibroblast growth factor (FGF) receptor 3 - results in dwarfism - short limbs - head/trunk nl size - associated with advanced paternal age
ATP hyrdolysis couple to energetically unfavorable rxns
F16BP
Colchicine
Achondroplasia

2. When does aspartate enter the urea cycle
Carnitine acyltransferase I
Procollagen - triple helix of 3 alpha collagen chains
After citruline
PMNs

3. What is Retin A used topically for
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Wrinkles and acne
Aminoacyl - tRNA binds A site - ribosomal rRNA catalyzes peptide bond formation - transfers growing peptide to AA in A site - ribosome advances 3 nucTIDE toward 3' end of RNA - moving peptidyl RNA to P side
RRNA

4. What does hartnups disease cause
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
Neuralgia

5. What ribosomes do prokaryotes have
IMP precursor
Intermediate filaments
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
30 - 50 - 70

6. phosphorylation of glucose to yield glucose 6 phosphate serves as the 1st step of what rxns and what enzymes catalyze it
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
Dec DNA - dec lymphos leads to SCID
Schwann cells - lens - retina - kidneys

7. What are uncoupling agents
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Inc permeability of membrane causing a dec in proton gradient and inc in O2 consumption - ATP synthesis stops - but electron transport continues to produce heat

8. hepatosplenomegaly - aseptic necrosis of femur - bone crisis - MACS that look like crumpled tissue paper

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9. What happens in hyperammonemia
Vincritsine/vinblastine
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Schilling test

10. Which direction does kinesin go
Targets the proteins for lysosome
Neg to pos
Fasting
Transmitted through both parents - affected mother may have affected children - affected father will have affected children

11. What is the order of severity for the different types of mutations
Nonsense > missense > silent
Chylomicrons
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
Malabsorption and steatorrhea (ADEK)

12. What does primase do
Makes RNA primer on which DNA poly III can initiate replication
5' of the incoming nucleotide
Silencers
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration

13. What are the physical findings of fragile x syndrome
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Transfers methyl units
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
THFs

14. What do albinism - ARPKD - CF - glycogen storage diseases - hemochromatosis - mucopolysaccharidoses (except Hunters) PKU - sickle cell - sphingolipodoses (except Fabrys) thalassemias have in common
Wrinkles and acne
LDL
Mediates chylomicron secretion
Autosomal recessive diseases

15. What step of uric acid synthesis does xanthine oxidase catalyze
Hypoxanthine to xanthing and xanthine to uric acid
Deamination
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus

16. bilateral - massive enlargement of of kidneys due to multiple large cysts
Medial dorsal nucleus of thalamus - mamillary bodies
PMNs
B48 - AIV - CII - E
ADPKD

17. What is the fxn of vit D
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Keep glutathione reduced so it can detoxify free radicals and peroxides
Transfers methyl units

18. What are purines made from
Binds to LDL receptor - mediates VLDL secretion
P+q = 1
FAP
IMP precursor

19. Of the four possible fates for pyruvate - which ends anaerobic glycolysis as in RBCs - leukocytes - kidney medulla - lens - testes and cornea
Lactate
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
RNA
FISH

20. What is the function of folic acid
Alanine
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele

21. What happens in vit D def
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
Nature and severity of phenotype vary from 1 individual to another - NF type 1
Catabolic processes to carry reducing equivalents away as NADH

22. Severe fasting hypoglycemia - inc glycogen storage in liver - inc blood lactate - hepatomegaly - dz and def enzyme
Trisomy 18 - severe mental retardation - rocker bottom feet - micrognathia - low set ears - clenched hands - prominent occiput - congenital heart disease - death usually within the first year
Niacin - constituent of NAD and NADP - derived from tryptophan
Wobble
Von gierkes - glucose 6 phosphatase

23. What does a defective Cl channel do
Glycine
Glycogen and FFA oxidation; glucose conserved for final sprinting
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)

24. What is the active form of vit D
Isocitrate dehydrogenase
1 -25 OH2 D3 = calcitriol
Williams syndrome
Passed to glutamate - then to alanine enters blood - enters liver - coverted to pyruvate and transfers ammonium back to glutamate which gives it to the urea cycle

25. In which direction is protein synthesized
Aminoacyl - tRNA binds A site - ribosomal rRNA catalyzes peptide bond formation - transfers growing peptide to AA in A site - ribosome advances 3 nucTIDE toward 3' end of RNA - moving peptidyl RNA to P side
Unwinds DNA template at replcation fork
N to C
ATP

26. elevated LDL due to defective or absent LDL receptor - heterozygotes have cholesterol ~300 - homozygotes ~700
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
Familial hypercholesterolemia - hyperlipidemia type IIA
Skin

27. Inhibition of thymidilate synthase and and DHFR lead to decrease In what substance
DTMP
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Oral uridine administration

28. Type IV BM
Blood - bone marrown - amniotic fluid - placental tissue
Oxidative is irreversible
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
4 under the floor

29. What is imprinting and give an example

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30. What does osteogenesis imperfecta causes and why
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Brittle bone disease - most commonly lead AD with abnl type I collagen causing multiple fractures with minimal trauma - blue sclerae due to translucency of connective tissue over the choroid - hearing loss - dental imperfections due to lack of dentin
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Essential fructosuria - fructokinase AR

31. How is vit D stored
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
25OHD3
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
Biotin

32. What happens in elongation of protein synthesis

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33. What co - factors are required for the pyruvated dehydrogenase complex
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
3' end (with CCA)
Creat a nick in the helix to relieave supercoils created during replication
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid

34. Wgat substances directly inhibit mitochondrial ATPase - causing an inc in proton gradient - no ATP because pump is stopped
Oligomycin
Adds 2 carbon with the help of biotin
Autosomal recessive diseases
Phenylethamolamine N methyl transferase

35. What apolipoproteins are on IDL
Colchicine
Nonsense > missense > silent
Proline and lysine - vit C
B100 and E

36. How do labile celss grow and regenerate and What are examples
HMP shunt
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast

37. What are the water soluble vitamins - which ones are stored
Carbomoyl phosphate synthetase II
Glycogen phosphorylase
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
GAA

38. What substances inhibit phosphofructokinase -1
Acetyl - CoA to malonyl - CoA (2C to 3C)
ATP - citrate
CAG
Fibroblast

39. In mismatch repair - which strand is recognized and In what hereditary syndrome is this defective
Unmethylated - newly synthesized - HNPCC
No
Intermediate filaments
30 - glycerol -3- phosphate shuttle

40. What does a western blot use for its sample
Hypoxanthine to xanthing and xanthine to uric acid
Protein
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
IMP precursor

41. In which single strand DNA repair mechanism do specific endonucleases release the oligonucTIDE containing bases and DNA poly and ligase fill and reseal - and what disease occures when this is mutated
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Polycystic liver disease - berry aneurysm - mitral valve prolapse
Particular sequence of DNA where replicatino begins - may be single of multiple
3' end (with CCA)

42. For eukaryotes - Where does replication begin?
P2 +2pq+ = 1
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
Debranching enzyme
Consesus sequenec of base pairs

43. What is dominant negative mutation and give an example
Specific glycosylases - AP endonuclease
Exerts a dominant effect - a heterozygote produces a nonfxnal altered protein that also prevents the normal gene from functioning - mutation of Tx factor its allosteric site - nonfxning mutant can still bind DNA - preventing wild type Tx from binding
Active secretion in lungs and GI - reabsorbs in skin
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates

44. spheroid RBCs due to spectrin or ankyrin defect - hemolytic anemia - inc MHCH - splenectomy is curative
Hyperlipidemia
Degredation of dietary TG in small intestine
Hereditary spherocytosis
1 -25 OH2 D3 = calcitriol

45. What regulates whether FBPase -2 or PFK-2 is active
Arg - lys - his - arg is most basic - has has no charge at body pH
Exercise: inc NAD/NADH - inc ADP - inc Ca
Seals.
Protein kinase A

46. How do odd chain fatty acids participate in gluconeogenesis
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
Phenytoin - MTX - and sulfonamides
BOne

47. Where is vit B12 found
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
Acetoacetate and beta hydroxybutyrate
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA

48. congenital microdeletion of long arm of chromosoe 7 with findings of elfin facies - mental retardation - hypercalcemia - well developed verbal skills - extreme friendliness with strangers - cardiovascular problems
DsRNA promotes degradation of target mRNA knocking down gene expression
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Williams syndrome
Supply sufficient glucose to brain and RBCs and to preserve protein

49. What is the RDE of glycogen synthesis
40 - 60 - 80
Inhibits RNA polymerase II - found in death cap mushrooms
Glycogen synthase
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis

50. What does the start codon code for in eukaryotes and prokaryotes
One
Phenylketones in urine
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Eu - methionine - pro - formyl - methionine

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Biochemistry

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