BCHM Diseases/Drugs

  1. Prion Disease
    • -prion infections agent
    • -scrapie (sheep.cow), madcow, kuru
    • -known as "spingiform encephalopathies"
    • -normally prions exist in brain with alpha helices and no beta sheets, but presence of beta sheets cause the disease
  2. B-thalessemia
    • adds an additional splicing site --> frame shift mutation
    • reduces synthesis of beta-hemoglobic chain and results in anemia
  3. Osteogenesis Imperfecta (Type I)
    • mild form
    • causes decreased synthesis of type I collagen
    • prone to fractures, blue sclera, & hearing loss
    • blue sclera- results from extremely thin collagen in eye so you can see membrane beneath
  4. Osteogenesis Imperfecta (Type II)
    • severe form
    • no synthesis of Type I collagen whatsoever
    • glycine replaced by bulky side chain and prevents collagen triple helix from forming
    • lots of bone fracture compared to type I
  5. Marfan's Syndrome
    • defect in fibrillin1 which changes the mechanical properties of ECM
    • excessive Growth Factor B, which is normally regulated by fibrillin
  6. Parkinson's Disease
    caused by low levels of LDOPA
  7. Scurvy
    • Vitamin C (abscorbic acid) deficiency
    • cause: hydroxylation of proline.lysine prevented so interchain H-bonding is reduced
    • symptoms: subcutaneous extravascation due to capillary fragility
  8. Ehlers Danlos Syndrome (EDS)
    Image Upload 1
    • mutation it Type V Collagen
    • hyperextensive joints
    • stretchy skin
  9. Diptheria Toxin
    • Upper respiratory tract infection
    • dangerous rxn: EF2 + ADP-ribose (added by diptheria) ---> transloaction
    • protein synthesis is inhibited
    • mebranous pharyngitis (pseudo-membrane)
    • treatment: nicotinomide
  10. Systemic Lupus Erythematosis
    • prevents mRNA splicing b/c antibodies itnerfere with U1 component of splicesome
    • rash,fever,arthritis,fatique, kidney problems
    • lU1pus
  11. DFP
    • irreversible inhbitor
    • (nerve gas)
    • binds to OH group of serine
    • nonspecific
  12. Barth Syndrome
    • acyl transferase inhibited from converting lysosomal CardioLipin to regular CL so lysosomal CL builds up causing cardiohypertrophy
    • *note- CL also known as diphosphatidylglycerol
  13. Niemann-Pick Disease
    • caused by sphignomyelin accucmulation in lysosomes due to defective sphignomyelinase
    • lipid lysosomal disease , so cant break down fats/cholesterol
  14. Cystic Fibrosis
    • thick mucus buildup in respiratory tract and pancreatic duct
    • due to absense of Cl- secretions due to ABC transporter issue and cystic fibrosis transmembrane conductase regulator (CFTR)
    • affects digestion of proteins and lipids in SI (but carbs are fine)
    • mucus dries up and blocks ducts/airways
    • high NaCl levels found in sweat
    • treated with short-medium chain FA diet and excess protein
  15. ABC diseases
    Cystic Fibrosis, Zellweger Syndrom, Tangier Disease, Adrenoleukodsytrophy, Sisterolemia (failure to pump plant sterol back into lumen)
  16. Cholera
    Due to release of cAMP and Ca2+ which activates PK-A and releases water (diarrhea)
  17. AminoglycosideInduced Deafness
    Mutation in 12s rRNA Streptomycin and gentamysinbinds to 12s rRNANo translation of ATPsynthase
  18. Mitochondria lEncephalomyopathy, Lactic Acidosis, & Stroke Like episodes (MELAS)
    • "Lactic Leucy"
    • Mutation in tRNA leucine
    • 5-15 yo age onse tStroke
    • Lactic acid - vomiting,tiredness, muscle weakness
  19. Myoclonic Epilepsy & Ragged Red Fiber Disease (MERRF)
    • "Lys(ine)e those red fibers"
    • Mutation in tRNA for lysine(encoded by mt
    • )Late childhood -->adulthood
    • Myoclonus- uncontrollablemuscle jerking
    • Seizures, lactic acidosis,dementia, cardiac problems
    • Ragged red fibers = clumbs of enlarged mito
  20. LeberHereditary Optic Neuropathy (LHON)
    • Mutation in complex I
    • Optical nerve damage - lossof bilateral vision
    • passed onto all offspring
  21. Arsenic Poisioning
    • reoxidizes reduced disulfide bonds making pyruvate and lactate so stable that they begin to build up --> acidosis and decrease in E
    • acts on enzymes containing lipoic acid (ex: PDH, glyceraldehyde 3 phosphate dehydrogenase)
    • treatment: 2,3 mercappropanol (competes with lipoic acid)
  22. Thiamine Deficiency
    • Deficiency in thiamine (Vitamin B12) results in PDH complex E1 not being able to decarboxylate pyruvate because the TPP is missing
    • Severe forms: Beri Beri and Wernicke Korsakoff Syndrome
  23. Beri Beri
    • Type of Thiamine Deficiency
    • Asia- eating polished rise with the husk removed (source of thiamine)
    • Wet & dry forms depending on presence of edema
    • neuromuscular cardiovascular disorders, delirium, memory loss, muscle weakning, increased venous return, peripheral vasodilation, opthalomogplegia
    • death by high output cardiac failure
  24. Wernicke- Korsakoff Syndrome
    • Thiamine Deficiency
    • common in chronic alcoholics and malnutrition

    Weirnike's enscephalopathy (acute) - delerium, mental ataxia, opthalmoplegia

    Korsakoff psychosis (chronic)- anterograde amnesia, distinct pattern of brain damage, IRREVERSIBLE!!

    Treatment- thiamine injections before chronic phase
  25. PDH deficiency
    • Defect of PDH E1 complex
    • inability to convert pyruvate to acetyl coA
    • X linked dominant
    • increased levels of pyruvate, lactate, alanine, alphaketo glutarate
    • causes congenital lactic acidosis
    • treatment: low carb diet
  26. Type I Glycogenoses
    • name: Von Gierke's Disease
    • enzyme defect: G6Pase

    • affects intestinal mucosa, liver, kidneys
    • most common type
    • cannot dephosphorylate
    • hypoglycemia, hepatomegaly, lactic acidemia, hyperlipidemia

    treatment: avoid fasting, eat uncooked corn starch, nasogastric tube

    type 1b- defect in G6P transporter
  27. Type II Glycogenosis
    • name: Pompe's Disease
    • defect: lysosomal alpha 1-4
    • muscle glucogenoses
    • generalized- affects heart, liver, and muscles
    • glycogen buildup in lysosomes
    • affects brain and spinal cord
    • 3 types: infantile, juvinille, adult
    • *severe
  28. Type III Glycogenosis
    • name: Cori's Disease
    • defect: amylo 1-4 glucosidase debranching enzyme
    • mild
    • glycogen molecules have short outter branches so unable to metabolize beyond branch points
  29. Type IV Glycogenosis
    • name: Ander's Disease
    • defect: glycogen branching enzyme
    • *severe and fatal
    • long chains are insoluble
    • liver cirrhosis
    • autoimmune attack on tissues
    • very rare
    • requires liver transplant
  30. Type V Glycogenosis
    • name: McArdle
    • defect: muscle phosphorylase
    • muscle glycogenosis
    • cramping upon exercise
    • CKMM levels rise because of muscle proteolysis
    • myoglobinuria (red urine)
    • treatment- high protein diet w creatine
  31. Type VI Glycogenosis
    • name: Her's Disease
    • defect: liver phosphorylase
    • hypoglycemia and hepatomegaly
  32. Type VII Glycogenosis
    • name: Tarui's Disease
    • defect: PFK-1 enzyme
    • muscle weakness
    • hemolysis due to low PFK activity in RBCs
  33. Type 0 Glycogenosis
    • defect: glycogen synthase
    • no glycogen is produced
    • fluctuates b.w hyper and hypoglycemia
  34. Hereditary Fructose Intollerance
    inhibits aldolase B; normal rxn : F1P --> [ald B] --> DHAP + glyceraldehdye

    • -causes low ATP, which stimulates AMP which activates AMP deaminase to produce NH3 + IMP
    • this reaction releases Pi to help produce energy, but does more harm than good becausethe NH3 forms uric acid leading to hyperurecemia

    • fructosuria
    • 1st seen when weaning baby
    • fructosuria
    • hypoglycemia
    • lactic acidosis
    • jaundice
    • hepatosplenomegaly
  35. Fructokinase Deficiency
    • aka Essential Fructosemia
    • normal reaction: Fructose -->[FK] ---> F1P
    • inhibits FK
    • not serious
  36. Glucose 6 Phosphate Dehydrogenase Deficiency
    G6P --> [G6PD] --> glucose6phospholactone

    -deficiecny in G6PD halts this rxn so there is no release of NADH

    decreased NADPH leads to a decreased reduced glutothione pool so increase in oxidative stress from ROS

    400 types of mutations of this gene, most commin in places where there is malaria

    • I- most severe- chronic hemolytic anemia
    • II- severe- bouts of acute hemolytic anemia
    • III- moderate - neonatal jaundice
    • IV- no symptons- majority of anemias
  37. Chronic Granulomatous Disease
    • due to a defective beta subunit of the NADPH oxidase complex so it cant produce superoxides or fight infection
    • causes recurrent life threatening bacterial and fungal infections
    • granulomas often found in skin, GI tract and UT
    • granuloma- collection of macrophages
  38. Kwashiorkor Disease
    • caused by lack of protein in the diet, and therefore lack of albumin
    • albumin is (-) and attracts Na+ drawing H20 into capillaries but w/o it, the stomachswells Image Upload 2
  39. cholelithasis
    presence of stones within the lumen of the gallbladder (mostly composed of cholesterol) due to high cholesterol, or low bile salt levels
  40. steatorreah-
    excessive lipid in feces (gray discoloration)
  41. Primary, Secondary, & Congenital Lactose Intollerance
    • Primary Lactose Intolerance: due to low expression of beta-galactosidase (lactase)
    • Secondary Lactose Intolerance: due to severe intestinal injury or loss of absorptive villi cells that secrete lactase [celiac disease, diarrhea, gastroenteritis ]
    • Congenital Lactose Deficiency (alactasia): severe, rare
  42. Gout
    • individuals with high levels of uric acid in blood
    • purines --> uric acid --> urinated
    • if not urinated, forms sodium urate crystals in tissues and then inflames
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BCHM Diseases/Drugs
diseases/drugs premid