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99 Cards in this Set
- Front
- Back
Parkinson’s Disease |
Destruction of dopaminergic neurons. |
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Schizophrenia |
Excessive activity of dopamine |
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Serotonin |
Insufficient serotonin synthesis may be one cause of clinical depression |
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Amyloidosis |
Accumulation of malformed protein that aggregate intracellularly and extracellularly |
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Sickle Cell Disease |
structural abnormality in β-globin |
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Thalassemias |
reduced output of one or more globin chains |
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Alzheimer’s |
Overstimulation of PKs that phosphoryllate the MT-associated tau protein |
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Type 2 Diabetes |
Breakdown in the insulin-controlled protein kinase signaling pathway, leading to insulin resistance |
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Arthritis & Asthma |
inflammatory diseases can be induced by overactivation of PKs |
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DFPDiisopropylfluorophosphate |
Irreversibly binds to hydroxyl group of serine |
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Iodoacetate |
Irreversibly binds to thiol groups of sulfhydryl |
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Disulfiram |
Irreversibly binds to cysteine active site on aldehyde dehydrogenase |
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Aspirin |
inhibits COX-1, COX-2 activity via acetylation of Ser530 |
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Azidothymidine (AZT) |
nucleotide analog of thymidine |
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Captropril |
competitively inhibits ACE |
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Allopurinol |
irreversible suicide inhibitor of xanthine oxidase |
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Marfan’s Sydrome |
Fibrillin 1 mutation |
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α-amanitin |
“Mushroom Toxin” |
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Systemic Lupus |
Patients make antibodies to RNA in their “Snurps” |
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β-thalassemia |
>200 mutations. |
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Limb Girdle Muscular Dystrophy (LGMD) |
Weakness and wasting away of limb musculature |
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Exogenous insertion of multiple uracil bases (RNA editing) |
Trypanosomes (Chagas Disease) and Leishmania (Leishmaniasis) |
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Corynebacterium (Modified Histadine) Diphtherae |
ADP-Ribosylation of Diphthamide Inhibits EF-2 of Translation in Eukaryotes |
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Acyclovir |
Anti-Viral Drug |
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Tenofovir |
Cause chain termination due to lack of 3’OH group |
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Adenosine/Cytosine Arabinoside |
Ribose is Replaced by Arabinose |
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Cytidine analogs |
once incorporated into DNA they cause hypomethylation as a methyl group cannot be added to N at position 5 |
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5-Fluorouracil |
5-fluorouridine triphosphate is incorporated into growing RNA and inhibits maturation of rRNA; causes abnormal splicing of pre-mRNA |
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Quinolones & Fluoroquinolones |
Traps ternary drug-topoisomerase DNA complex |
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Etoposide |
Epipodophyllotoxin |
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Topotecan, Camptothecin |
Cause of some cancers and myelodysplastic syndromes |
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Rifampin |
Conformation change of RNA pol blocks formation of 1st phosphodiester bond of RNA |
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Actinomycin-D |
Used for Cancers |
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Puromycin |
Binds to the A site of ribosomes and causes premature chain termination |
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Tetracyclines, |
Used Clinically because they Concentrated by PROKARYOTES |
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Streptomycin |
Prevents binding of f-met-tRNA to P Site |
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Chloramphenicol |
50 Subunit Only |
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Cycloheximide |
Chloramphenicol except EUKARYOTES |
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Erythromycin/Clindamycin |
Blocks Translocation on PROKARYOTES, 50 S only |
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Peptic Ulcer |
damage to mucosal layer in stomach or first part of duodenum allows acid to attack the underlying lining |
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Indigestible Carbohydrates |
Indigestible polysaccharides can be digested by bacteria in the lower part of the gut, which can lead to gas and the runs (e.g. Raffinose) |
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α-Amylase Inhibitors |
Originally sold as slimming aids. The starch is broken down by bacteria in gut instead and leads to same problem as above |
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Lactose Intolerance |
Caused by a deficiency of β-Galactosidase (lactase). The lactose can be broken down by bacteria, resulting in accumulation of hydrogen gas, organic acids and carbon dioxide in gut and leads to same problem as above. |
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Lactose Intolerance In babies |
Can occur in premature infants, because lactase enzyme not produced yet. Usually disappears. |
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Cholelithiasis |
Occur in 20% of the Population |
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Refsum’s Disease |
a.k.a. phytanic acid storage syndrome |
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Zellweger’s Synd. |
Bad peroxins Bad Peroxisomal Biogenesis Bad Peroxisomes |
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Pathological Ketosis |
Cannot use blood glucose so hydrolyzes fat and makes ketones |
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Barth Syndrome |
Taz acyltransferase gene mutation that is involved in remodeling cardiolipin |
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Cardiolipin |
colds complexes 3 and 4 in ETC |
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Niemann Pick |
absence of myelinogenase results in accumulation of sphingomyelin in lysosomes |
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Refsum’s Disease |
a.k.a. phytanic acid storage syndrome |
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Multiple sclerosis |
Cause may include viral infection that precipitates autoimmue response |
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Zellweger’s Synd. |
Bad peroxins Bad Peroxisomal Biogenesis Bad Peroxisomes |
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Respiratory Distress Syndrome |
dipalmitoylphosphotidyl choline is main component for lowering lung surface tension (surfactant) |
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Pathological Ketosis |
Cannot use blood glucose so hydrolyzes fat and makes ketones |
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Kwashiorkor |
Edema, lack of sufficient proteins to maintain oncotic pressure |
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Barth Syndrome |
Taz acyltransferase gene mutation that is involved in remodeling cardiolipin |
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Gout |
Excessive absorption of purines in diet |
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Cardiolipin |
colds complexes 3 and 4 in ETC |
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Niemann Pick |
absence of myelinogenase results in accumulation of sphingomyelin in lysosomes |
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Multiple sclerosis |
Cause may include viral infection that precipitates autoimmue response |
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Respiratory Distress Syndrome |
dipalmitoylphosphotidyl choline is main component for lowering lung surface tension (surfactant) |
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Kwashiorkor |
Edema, lack of sufficient proteins to maintain oncotic pressure |
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Gout |
Excessive absorption of purines in diet |
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Other ABC transporter genetic disorders |
Zellweger, Tangier, Adrenoleukodystrophy, Sitosterolaemia |
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Vitamin C |
required to keep prolyl/lysyl hydroxylase in active form (in Fe2+ form) |
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Osteogenesis Imperfecta |
Complete dominance mutation (LOF) in a single copy of collagen type 1A1 (Type I) or 1A2 (Type 2—fatal) |
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Ehlers-Danlos Syndrome (EDS) |
hypermobile joints which frequently dislocate extensible skin, but bone is normal |
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EDS Classical |
Col V gene mutation |
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EDS Vascular |
Col3A1 mutation results in arterial, uterine fragility |
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Alpha1 Antitrypsin deficiency |
Mutation in SERPINA 1, chr 14 |
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Lipidoses |
Lipid Lysosomal Storage Diseases |
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Tay Sachs |
hexoamindase A deficiency leads to accumulation of GM2-ganglioside |
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amino acids |
polar non polar |
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polar AA |
acidic-glutamic acid, aspartic acid |
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basic, neutral |
basic-hys lys arg |
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nonpolar |
glycine |
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Tense state hemoglobin |
high CO2, high H+, low pH...all charactersitcs of metabolically active tissue. |
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collagen triple helix |
maintained by hydroxylation of prolyl and glycosulation of lysine, necesary for H bonding. need iron and vitamin C to make this happpen, vit c must reduce fe3+ |
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respiratory acidosis |
caused by decreased in respiration. person has lots of H+ and lots of CO2 that they are taking in and converting...mechanism to treat this would be to hyperventilate. also for the kindey to excrete H+ |
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respiratory alkalosis |
cuased becuase person excited and hyperventilating...getting rid of their H+!!!! CO2 is low, so is H+. to treat this person would need to slow down respiration. kindeys would decrease secretion of H+ |
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LDH |
serum, MI |
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creatine kinase, CK |
serum, MI |
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Phosphohexose isomerase |
serum, MI |
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Aspartate aminotranserase |
serum, CSF |
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Alanine aminotransferase |
serum, hepatitis |
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alkaline phosphatase |
serum, liver and bone disease |
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Acid Phosphatase |
serum, metastatis carcinoma of prostate gland |
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a amylase |
serum and urine, panreatitis and pumps |
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liver function tests |
bilirubin |
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MI |
myobglobin raised |
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GGT |
free radical production |
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time course of MI |
myoglobin, CK, LDH, troponin |
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PSA |
prostate cancer |
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bHCG |
choriocinmoas, germ cell, liver cancer |
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AFP |
liver cancer |
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ALP |
liver disfunction |
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padgets disease |
high ALP |