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Biochemistry

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1. What is the amino acid precursor for porphyrin and heme
Glycine
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Lariat shape in order and remove intron precisely and join 2 exons
Microtubules

2. What substances inhibit phosphofructokinase -1
ATP - citrate
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
Y shaped region along the DNA template where leading nad lagging strands are synthesized

3. What does a pyruvate dehydrogenase deficiency lead to and What are the findings
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Inc CPK and muscle biopsy
Antibiotic use or excessive ingestion of raw eggs
LCAT (lecithin cholesterol acyltransferase)

4. What does vit E def cause
Wobble
RER
Citrate - acetyl coa from mito to cyto
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination

5. what gene is implicated in fragile X syndrome - and What is the mutation
Hepatic glycogenolysis - adipose tissue release of FFA - muslce and liver FFA - hepatic gluconeogenesis from peripheral tissue lactate and alanine and from adipose tissue glycerol and proprionyl - coA (odd chain FFA)
Cartilage - hyaline - vitreous body - nucleus pulposus
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
FMR1 gene - methylation - associated with chromosomal breakage

6. What is incomplete penetrence and give an example
Not all individuals with a mutant genotype show the mutant phenotype
Degradation of TG remaining in IDL
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Evident in first few days of life - can present last onest - excess carbamoyl phosphate converted to orotic acid - orotic acid in blood and urine - dec BUN and symptoms of hyerpammonemia

7. What metabolic rxns occur in the mitochondria
5' to 3'
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
Alcohol version of glucose - can trap glucose in cell - aldose reductase
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it

8. What is the exception to genetic redundancy
Inhibits 50S peptidyltransferase
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Methionine encode by only 1 codon (AUG)
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1

9. What are the symptoms of vit A def
II - VII - IX - X (1972) protein C and S
Inc glucagon - inc cAMP - inc PKA
Night blindness - dry skin
If pt inherits or develops a mutation in a tumor suppresor gene - the complementary allele must be deleted/mutated before cancer develops - not true of oncogenes - retinoblastoma

10. What happens with wet beriberi
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Degredation of TG circulating in chylomicrons and VLDLs
High output cardiac failure - dilated cardiomyopathy - edema
IDL

11. What is the RDE of fatty acid oxidation
Kwashiorkor - small child with swollen belly
Consesus sequenec of base pairs
Carnitine acyltransferase I
Neuralgia

12. What does beta oxidation do and Where does it occur
Glycogen synthase
Tropoelastin with fibrillin scafolding
Breaks down acyl - coa to acetyl coa groups in mito
Type II

13. What substance accumulates in galactokinase def and What is the clinical picture
Abnormal protein folding - degradation before reaching cell surface
Von hippel lindau - 3
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
Biotin

14. What is the breakdown product of dopamine
SNP
Kidney - ears - eyes
HVA
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol

15. Leysh - Nyhan syndrome is a defect in which enzyme and What are the biochemical results
Facial flushing
Mcardle's - skeletal muscle glycogen posphorylase
HGPRT - defective purine salvage - excess uric acid production
Phenylketones in urine

16. What does fomepizole do
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
Fed
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning

17. Outside the fibroblast What part of procollagen is cleaved and What is it transformed into
Cleft palate - cardiac abnl - pregs test
Terminal regions - tropocollagen
LCAT (lecithin cholesterol acyltransferase)
B100

18. What is codominance and give an example
HDL
Covalent cross - linking by lysyl oxidase to make collagen fibrils
TRNA
Neither of 2 alleles is dominant - blood groups

19. What two enzymes are involved in EtOH metabolism
B6
EtOH dehydrogenase and acetaldehyde dehydrogenase
Achondroplasia
Wrinkles and acne

20. What are the 4 assumption of the Hardy Weinberg law
Early in life - AR - inability to synthesize lipoproteins due to def in apoB100 and B48 - intestinal biopsy shows accumulation within enterocytes due to inability to export absorbed lipid as chylomicrons - failure to thrive - steatorrhea - acanthocyt
Degredation of TG circulating in chylomicrons and VLDLs
B-100 - CII and E
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration

21. What is the trinucleotide repeat in fragile X
Nature and severity of phenotype vary from 1 individual to another - NF type 1
CGG
Polycystic liver disease - berry aneurysm - mitral valve prolapse
NAD+

22. What do albinism - ARPKD - CF - glycogen storage diseases - hemochromatosis - mucopolysaccharidoses (except Hunters) PKU - sickle cell - sphingolipodoses (except Fabrys) thalassemias have in common
III - joint dislocation - anuerysms - organ rupture
Autosomal recessive diseases
Adipse tissue stores - keton bodies become the main source of energy fo the brain and heart - after these are depleted - vital protein degradation accelerates - leading to organ failure and death
Antioxidant - protects RBCs and membrances from free radical damage

23. What is loss of heterozygosity and give an example
If pt inherits or develops a mutation in a tumor suppresor gene - the complementary allele must be deleted/mutated before cancer develops - not true of oncogenes - retinoblastoma
Williams syndrome
Leu - lys
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive

24. What is the activated carrier for 1 carbon units
THFs
Foliage - small reserve in liver - eat green leaves
Neg to pos
O- oligosaccharaides

25. What ribosomes do eukaryotes have
40 - 60 - 80
Hepatic glycogenolysis - adipose tissue release of FFA - muslce and liver FFA - hepatic gluconeogenesis from peripheral tissue lactate and alanine and from adipose tissue glycerol and proprionyl - coA (odd chain FFA)
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
DNA

26. What is dominant negative mutation and give an example
Achondroplasia
HMG- CoA synthase
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
Polyneuritis - symmetrical muscle wasting

27. What does osteogenesis imperfecta causes and why
Grows slowly - collapses quickly
Alcohol version of glucose - can trap glucose in cell - aldose reductase
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
Oxidized hemoglobin precipiated within RBCs

28. How do microtubules grow and collapse
HMG- CoA reductase
Grows slowly - collapses quickly
Phosphofructokinase 1
Q -

29. bilateral acoustic schwannomas - juvenile cataracts
Microtubules
Arginine
Tryosine hydroxylase
NF2 on chromosome 22

30. What is made fir rNucleotides or deoxyrNucleotides and what enzyme is necessary to convert one to the next
Ribos first then deoxyribos with ribonucleotide reductase
25OHD3
Night blindness - dry skin
Fructose 1 -6 bisphosphate

31. What chromosome is the NF gene on...
Hypoxanthine to xanthing and xanthine to uric acid
Adipse tissue stores - keton bodies become the main source of energy fo the brain and heart - after these are depleted - vital protein degradation accelerates - leading to organ failure and death
Abnormal protein folding - degradation before reaching cell surface
17 - 17 letters in von Recklinghausen

32. What is the breakdown product of NE
Seals.
VMA
Blood - bone marrown - amniotic fluid - placental tissue
HVA

33. What does the ELISA test for
Niacin - constituent of NAD and NADP - derived from tryptophan
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
ATP hyrdolysis couple to energetically unfavorable rxns
Glycogenolysis to form glucose

34. What causes biotin def
Antibiotic use or excessive ingestion of raw eggs
RER
ATP and alanine
Glycine

35. What form of amino acids are found in proteins
L form
Wernicke - korsakoff - dry and wet beriberi
Exercise: inc NAD/NADH - inc ADP - inc Ca
TRNA

36. What does NADPH oxidase deficiency result in and why
Heterochromatin = HighlyCondensed
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
Alpha - ketoglutarate dehydrogenase complex
Cleft palate - cardiac abnl - pregs test

37. How do cardia glycosides work
Polycystic liver disease - berry aneurysm - mitral valve prolapse
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Blood - bone marrown - amniotic fluid - placental tissue
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation

38. What bone disorder has x linked dominant inheritance
Metanephrine
Read from a fixed starting point as a continuous sequence of bases
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
B-100 - CII and E

39. What does a dehydrogenase do
Oxidizes substrate
Glycogen and FFA oxidation; glucose conserved for final sprinting
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
Ribose 5- P to PRPP

40. What does primase do
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Makes RNA primer on which DNA poly III can initiate replication
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels

41. What is the defect in fructose intolerance and What does it cause
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Antibiotic use or excessive ingestion of raw eggs
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
Hypoglycemia

42. What are the symptoms of vit A excess
Arg - lys - his - arg is most basic - has has no charge at body pH
Neuralgia
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin

43. What does pancreatic lipase do
Rotenone - CN- - antimycin A - CO
Degredation of dietary TG in small intestine
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA

44. Which bond is stronger AT or CG and why? What is the laboratory consequence of this?
CG- 3 > AT-2 - More CG content - melting point goes up
Facial flushing
LDL
40 - 60 - 80

45. facial lesions - hypopigmented 'ash leaf spots -' cortical and retinal hamartomas - seizures - mental retardation - renal cysts - renal angiomyolipomas - cardiac rhabdomyomas - inc risk of astrocytomas
Glycogen synthase
Tuberous sclerosis
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
Catabolic processes to carry reducing equivalents away as NADH

46. What is trimming
CGG
Four
Removal of N or C termal propeptides from zymogens to generate mature proteins
Mediates extra remnant take up

47. What collagen type is most frequently affected in ehlers danlos and What are common complications
Specific glycosylases - AP endonuclease
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
5' of the incoming nucleotide
III - joint dislocation - anuerysms - organ rupture

48. inc glycogen in muscle but can't break it down - painful muscle cramps - myglobinuria with strenuous exercise - dz and enzyme

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49. What is the name is fxn of vit B3
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
Ribose 5- P to PRPP
ATP and methionine
Niacin - constituent of NAD and NADP - derived from tryptophan

50. elevated LDL due to defective or absent LDL receptor - heterozygotes have cholesterol ~300 - homozygotes ~700
Comlex II
Modifies N- oligosaccharides
Familial hypercholesterolemia - hyperlipidemia type IIA
GTP

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Biochemistry

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