BC disease 1

  1. Prion Disease
    • Protein misfolding
    • Inherited, sporadic, and acquired forms
    • Accumulation of protease resistant isoforms invade CNS 
    • abormal prion can trigger refolding of normal prion
    • no cure
  2. Prion Disease symptoms
    • ataxia, dementia, paralysis, spongiform brain, plaques
    • -amyloid plaques
  3. Prion Disease types
    • CJD, vCJD, Kuru, BSE
    • creuzfeldt-jakob disease, mad cow, variable CJD
  4. Prion Disease proteins
    • PrPc- Nomal 40% Image Upload 2
    • PrSc- Abnormal Scrapie 45%\Image Upload 4 30%Image Upload 6
  5. CJD
    Creutzfeldt-Jakob Disease
  6. Cruetzfeldt-Jakob Disease
    • most common prion disease
    • sporadic and inherited
  7. vCJD
    • linked to mad cow BSE
    • most recent cases of prion diseases
  8. Kuru
    • first prion disease
    • people of New Guinea
    • eating brain of the dead
  9. BSE
    Bovine Spongiform Encephalopathy
  10. Bovine Spongiform Encephalopathy
    • Mad cow disease
    • cattle fed sheep protein feed with infected scrapie sheep
  11. Carbon Monoxide Poisoning
    • CO binds to the heme iron of Hb tigher than O2
    • stabalized Hb in the R form
    • inhibites the delivery of O2 to tissues
    • treated with O2 administration
  12. Hemoglobinopathy
    • unstable Hb structure
    • increase affinity for O2
    •  decrease affinity for O2
    • or increasing rate of oxidation of the hem Fe2+ to Fe3+ (methemoglobin)
  13. Alpha or Beta thalessemia
    • reduced synthesis of the alpha or beta chain
    • profound anemia
  14. Sickle cell anemia cause
    substitution of Glu by Val at aa #6 in the Image Upload 8globin subunit
  15. sickle cell anemia effect
    • creates hydrophobic patch
    • patch is shielded in the R form
    • conversion to the T form exposes patch
    • causes deoxygenated Hb to polymerize into long fibers
    • distors the RBC
    • carriers may have protection from malaria
  16. Ethlers Danlos Syndrome
    • connective tissue disorder
    • can be benign or more serious
    • possible bowel or arterial rupture
  17. Ethlers Danlos Syndrome symptoms
    skin fagility, hyperextensibility, and hypermobility
  18. Ethlers Danlos Syndrome Cause
    mutations in the genes that code for collagen proteins and genes encoding enzymes responsible for generation of mature collagen fiber
  19. Osteogenesis imperfecta
    • brittle bone disease
    • teeth and hearing abnormalities
    • mutations in collagen genes
  20. Scurvy cause
    • vitamin C (ascorbate) deficiency
    • unable to form hydropolines
    • unable to form interchain H+ bonds that form collagen triple helix
  21. scurvy effects
    defective, weak collagen
  22. Requirements for correct hydroprolines
    Fe2+ , ascorbate (vit C), and alpha ketoglutarate
  23. Scurvy also
    lack of hydroxylysines prevent proper formation of extracellular covalent cross links and glycosylation
  24. stereospecific rxs
    • 50% of drugs are chiral
    • cant assume R and S enantiomers react the same in the body
    • single enantiomer drugs more effective
  25. "late onset" hyperammonmenia
    • elevated blood ammonia levels
    • after 1st month of life
  26. late onset hyperammonmenia cause
    • mutation in gene coding for ornithine transcarbamylase for formation of urea
    • mutant exyme has reduced substrate affinity
    • only 10% effective
  27. NSAID
    • non steroidal anti inflamitory drug
    • vioxx, celebrex,
  28. Vioxx
    • NSAID which inhibits cyclooxygenase activity
    • COX1-good- protexts gastrointest mucus Ile
    • COX2-bad- inflammation Val
    • vioxx only affects COX 2
  29. Zellweger Syndrome cause
    • inability to form functional peroxisomes,
    • prevents synthesis of plasalogens
    • prevents mylenation
  30. zellweger syndrome symptoms
    • infants typically mentally retarded
    • lack muscle tone
    • characteristic facial features,
    • usually fatal
  31. Myasthenia Gravis symptoms
    • muscle weakness after periods of activity
    • usually improve during rest
    • facial muscles
  32. myasthenia gravis cause
    • autoimmune disease
    • produce antibodies to nicotinic acetylcholine receptor
    • antibodies interfere with the funtion or destroy the receptor at the neuromuscular junction
    • prevents muscle contraction
  33. myasthenia gravis treatment
    • anticholineresterase agents- increase acetylcholine and improve neuromuscular transmission
    • immunosupressive drugs
  34. Toxin examples
    Image Upload 10cobratoxin, Image Upload 12bungaroo toxin, Image Upload 14conotoxin and tubocurarine arrows
  35. toxins how they work
    • inhibit or stimulate membrane transport proteins
    • paralysis by blocking nicotinic acetylcholine receptors
  36. digitalis how it works
    • inhibits the Na+/K+ ATPase
    • puple foxglove
  37. Digitalis uses
    • cardiotonic steroid
    • increase the contractile force of the heart
    • slows the rate of heart beat
    • narrow theraputic index must be strictly controlled
  38. Nitroglycerin uses
    treat angina -(chest pain due to restricted blood to heart)
  39. nitroglycerin how it works
    • converted to NO in the body
    • relaxes blood vessels
    • reduces workload of the hear and decreases heart oxygen requirement
  40. Viagra how it works
    • relatively specific cGMP phosphodiasterase inibitor
    • cGMP levels elevated for longer following NO release
    • blood vessels remain relaxed
    • blood flow increases
  41. Viagra Uses
    • reduces bp
    • treats ED
  42. Diabetes Mellitus Type I other names
    • "insulin dependent" diabetes
    • juvinile onset
  43. Diabetes Mellitus Type I effects
    • autoimmune
    • destruction of Image Upload 16 cells in pancreas that produce insulin
  44. Dibetes Mellitus Type II other names
    • adult onset
    • non-insulin dependent
  45. Diabetes Mellitus Type II effects
    • deficiency or alteration in insulin receptor
    • insulin insensitivity
    • sometimes defective insulin- reuires insulin
  46. cholera cause
    • bacterium Vibrio Cholerae
    • produce cholera toxin with enzymatic activity
    • catalyzes the transfer of ADP-ribose moiety of an NAD+ molecule to an Arg of a Gs protein located in intestinal epithelial cells
    • blocks GTPase activity
    • G protein remains active
    • adenylate cyclase remains active
    • cAMP remain elevated
    • activates PKA
    • phosphorylates CFTR chloride channel
    • Cl- ions flood into lumen
  47. Cholera symptoms
    • diarrhea, dehydration
    • fatal without rehydration
    • CF carriers may be resistant
  48. Whooping cough cause
    • bacterium Bordatella pertussis
    • produces pertussis toxin
    • catalyzes ADP riboslation of G proteins
    • inhibition of Gi
    • Cys is ribosylated
    • increase cAMP
    • not sure link to coughing
  49. Bubonic plague cause
    • bacterium Yersina pestis
    • encodes a protein YoPH
    • protein Tyr phosphatase
    • dephosphorylates key proteins of the immune system
    • disrupts cell signaling and prevents immune response
Card Set
BC disease 1
Test 1