Biochem Drugs/diseases

Front 1

Parkinson’s Disease

Back 1

Destruction of dopaminergic neurons.
Results in low levels of L-DOPA in epinephrine synthesis
Can be improved if treated with β-MAO inhibitors in early stage

Front 2

Schizophrenia

Back 2

Excessive activity of dopamine
Treat with blockers of dopamine synthesis

Front 3

Serotonin

Back 3

Insufficient serotonin synthesis may be one cause of clinical depression
Prozac (fluoxetine) is an antidepressant that blocks serotonin elimination from synaptic cleft
Manic depression results from very high levels of serotonin
Lysergic acid diethylamide blocks serotonin receptors

Front 4

Amyloidosis

Back 4

Accumulation of malformed protein that aggregate intracellularly and extracellularly
Protein deposits are known as amyloids
Alpha helices are replaced with beta pleated sheets and the resultant protein aggregates are proteolytic resistan

Front 5

Sickle Cell Disease

Back 5

structural abnormality in β-globin
Hemolytic and painful vaso-occlusive crises => pain in bones, chest and abdomen
Mechanism cannot tolerate high protein concentrations when deoxy
Forms long filamentous polymers that readily precipitate
Mutation is Glu6β to Val (charged to hydrophobic)
Valine interacts with Phe85 & Leu88 (“sticky patch”)
Increased resistance to malaria

Front 6

Thalassemias

Back 6

reduced output of one or more globin chains

Front 7

Alzheimer’s

Back 7

Overstimulation of PKs that phosphoryllate the MT-associated tau protein
Causes aggregates and tangles

Front 8

Type 2 Diabetes

Back 8

Breakdown in the insulin-controlled protein kinase signaling pathway, leading to insulin resistance

Front 9

Arthritis & Asthma

Back 9

inflammatory diseases can be induced by overactivation of PKs

Front 10

DFPDiisopropylfluorophosphate

Back 10

Irreversibly binds to hydroxyl group of serine
DFP Nerve gas

Front 11

Iodoacetate

Back 11

Irreversibly binds to thiol groups of sulfhydryl

Front 12

Disulfiram

Back 12

Irreversibly binds to cysteine active site on aldehyde dehydrogenase
Acetaldehyde accumulates in tissues, resulting in vomiting, headaches, palpitations, tachycardia
Aversion therapy for alcoholism

Front 13

Aspirin

Back 13

inhibits COX-1, COX-2 activity via acetylation of Ser530
Prevents arachidonic acid from migrating to active site

Front 14

Azidothymidine (AZT)

Back 14

nucleotide analog of thymidine
Competes for active site of viral reverse transcriptase
Cause chain termination N-N-N, lacks 3’ OH, used for HIV

Front 15

Captropril

Back 15

competitively inhibits ACE
Lowers blood pressure

Front 16

Allopurinol

Back 16

irreversible suicide inhibitor of xanthine oxidase

Front 17

Marfan’s Sydrome

Back 17

Fibrillin 1 mutation
Causes elongation of bones/digits/etc.
changes in mechanical properties of ECM, loss of control of growth factors TGF Beta

Front 18

α-amanitin

Back 18

“Mushroom Toxin”
Cyclic Octapeptide
Inhibits RNA Pol Type II strongly and Type III slightly
Effects seen in intestine and later in liver and kidney
Asymptomatic-> gastrointestinal->apparent recovery->hepatic
change conformational shape of RNA Polymerase

Front 19

Systemic Lupus
Erythmatosis

Back 19

Patients make antibodies to RNA in their “Snurps”
Fatigue, arthritis, rash, kidney problems
Interferes with U1 component of splicesome and prevents normal pre-mRNA splicing

Front 20

β-thalassemia

Back 20

>200 mutations.
Reduced synthesis of β haemoglobin chain that results in microcytic hypochromic anaemia.
Many of these mutations generate additional splice sites within the mRNA.
As a result, frame shifts or premature stop codons are introduced into the mature mRNA.
This results in the production of an abnormal β-globin protein.

Front 21

Limb Girdle Muscular Dystrophy (LGMD)

Back 21

Weakness and wasting away of limb musculature
Mutation in calpain 3 gene that generates new splice site within codon 16

Front 22

Exogenous insertion of multiple uracil bases (RNA editing)

Back 22

Trypanosomes (Chagas Disease) and Leishmania (Leishmaniasis)
Inserts erroneous uridine into mRNA

Front 23

Corynebacterium (Modified Histadine) Diphtherae

Back 23

ADP-Ribosylation of Diphthamide Inhibits EF-2 of Translation in Eukaryotes

Front 24

Acyclovir

Back 24

Anti-Viral Drug
Herpes Simplex I & II
Varicella Roster (Chicken Pox and Shingles)
Epstein-Barr Virus (Mononucleosis, Burkitt’s lymphoma)
NOT Cytomegalovirus
Analogue of (deoxy) guanosine
Ribose is missing bottom half  inability to elongate DNA chain
Only infected cells possess the viral kinase for the 1st phosphorylation event—sugar ring replaced by 3’ OH
Does not affect normal cells because of normal thymidine kinase activity

Front 25

Tenofovir

Back 25

Cause chain termination due to lack of 3’OH group
Only infected cells possess the viral kinase for the 1st phosphorylation event
Targets HIV

Front 26

Adenosine/Cytosine Arabinoside

Back 26

Ribose is Replaced by Arabinose
Prevents DNA elongation
Anti-Cancer Drug
Toxic to Normal Cells, but MORE toxic to Cancer cells
Drug of Choice for Myoblastic Leukemia
has 3'OH but terminated elongation bc of planar aragement

Front 27

Cytidine analogs
decitibine

Back 27

once incorporated into DNA they cause hypomethylation as a methyl group cannot be added to N at position 5

Front 28

5-Fluorouracil

Back 28

5-fluorouridine triphosphate is incorporated into growing RNA and inhibits maturation of rRNA; causes abnormal splicing of pre-mRNA
5-fluorodeoxyuridine monophosphate inhibits thymidylate synthase and results in thymineless death

Front 29

Quinolones & Fluoroquinolones

Back 29

Traps ternary drug-topoisomerase DNA complex
Ds DNA strand breaks-> apoptosis
Ciprofloxacin
Specifically targets prokaryotic DNA gyrase

Front 30

Etoposide

Back 30

Epipodophyllotoxin
Targets eukaryotic topoisomerase II
Prevents cleavage of DNA strand
Treatment for cancer

Front 31

Topotecan, Camptothecin

Back 31

Cause of some cancers and myelodysplastic syndromes

Front 32

Rifampin

Back 32

Conformation change of RNA pol blocks formation of 1st phosphodiester bond of RNA
Inhibits initiation of prokaryote transcription
Particularly active against gram+ and TB

Front 33

Actinomycin-D

Back 33

Used for Cancers
Inhibits separation of DNA strands  Inhibits Transcription (Proks, Euks)
 Inhibits DNA Replication
Top II

Front 34

Puromycin

Back 34

Binds to the A site of ribosomes and causes premature chain termination
Affects BOTH PROKS and EUKS
Imitates aminacul-tRNA

Front 35

Tetracyclines,

Back 35

Used Clinically because they Concentrated by PROKARYOTES
prevents tRNA from access to A site and formation of bond, elongation is prevented

Front 36

Streptomycin

Back 36

Prevents binding of f-met-tRNA to P Site
Also Caused Misreading of mRNA  proteins with mistakes
Bacteria can develop resistance
PREVENTS INITIATION

Front 37

Chloramphenicol

Back 37

50 Subunit Only
Prevents Peptide Bond Formation in PROKARYOTES
(prevents peptidyl transferase acitivty)

Front 38

Cycloheximide

Back 38

Chloramphenicol except EUKARYOTES

Front 39

Erythromycin/Clindamycin

Back 39

Blocks Translocation on PROKARYOTES, 50 S only

Front 40

Peptic Ulcer

Back 40

damage to mucosal layer in stomach or first part of duodenum allows acid to attack the underlying lining
Causes include H. pylori, NSAIDS, smoking, excess gastrin secretion (gastrinoma)

Front 41

Indigestible Carbohydrates

Back 41

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)

Front 42

α-Amylase Inhibitors

Back 42

Originally sold as slimming aids. The starch is broken down by bacteria in gut instead and leads to same problem as above

Front 43

Lactose Intolerance

Back 43

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.
Bloating, diarrhea
Primary-rare, autosomal recessive
Secondary-physiological decrease in lactase activity

Front 44

Lactose Intolerance In babies

Back 44

Can occur in premature infants, because lactase enzyme not produced yet. Usually disappears.

Front 45

Cholelithiasis

Back 45

Occur in 20% of the Population
Cholesterol Rich Stones form in Gall Bladder
Bile solubilizes cholesterol, but
Cholesterol > Bile salts
-> Gall Stones (Crystallizing of Cholesterol)
Causes include malabsorption of bile salts from intestine, obstruction of biliary tract, severe hepatic dysfunction, increase biliary cholesterol secretion
Treat with cholecystectomy, chendeoxycholic acid

Front 46

Refsum’s Disease

Back 46

a.k.a. phytanic acid storage syndrome
Lack alpha hydroxylase
Inability to do α-oxidation, so Phytanic CANNOT go to Pristanic
Demyelination because of proliferation/enlargement of Schwann Cells
Only lipid storage disease that can be controlled by diet

Front 47

Zellweger’s Synd.

Back 47

Bad peroxins  Bad Peroxisomal Biogenesis  Bad Peroxisomes
Death within 12 months of birth
Accumulation of VLCFAs and Pristanic Acids

Front 48

Pathological Ketosis

Back 48

Cannot use blood glucose so hydrolyzes fat and makes ketones

Front 49

Barth Syndrome

Back 49

Taz acyltransferase gene mutation that is involved in remodeling cardiolipin
Lysocardiolipin accumulates, resulting in cardiomyopathy, neutropena, , 3-methylglutaconic aciduria, and infantile death

Front 50

Cardiolipin

Back 50

colds complexes 3 and 4 in ETC

Front 51

Niemann Pick

Back 51

absence of myelinogenase results in accumulation of sphingomyelin in lysosomes
Also known as lipidosis

Front 52

Refsum’s Disease

Back 52

a.k.a. phytanic acid storage syndrome
Lack alpha hydroxylase
Inability to do α-oxidation, so Phytanic CANNOT go to Pristanic
Demyelination because of proliferation/enlargement of Schwann Cells
Only lipid storage disease that can be controlled by diet

Front 53

Multiple sclerosis

Back 53

Cause may include viral infection that precipitates autoimmue response

Front 54

Zellweger’s Synd.

Back 54

Bad peroxins  Bad Peroxisomal Biogenesis  Bad Peroxisomes
Death within 12 months of birth
Accumulation of VLCFAs and Pristanic Acids

Front 55

Respiratory Distress Syndrome

Back 55

dipalmitoylphosphotidyl choline is main component for lowering lung surface tension (surfactant)
Results in hypoxaemia

Front 56

Pathological Ketosis

Back 56

Cannot use blood glucose so hydrolyzes fat and makes ketones

Front 57

Kwashiorkor

Back 57

Edema, lack of sufficient proteins to maintain oncotic pressure
Inadequate growth, thinning of hair

Front 58

Barth Syndrome

Back 58

Taz acyltransferase gene mutation that is involved in remodeling cardiolipin
Lysocardiolipin accumulates, resulting in cardiomyopathy, neutropena, , 3-methylglutaconic aciduria, and infantile death

Front 59

Gout

Back 59

Excessive absorption of purines in diet
Hyperuricemia & recurrent acute arthritis
Impaired excretion of uric acid
Urate crystals precipitate (esp. in joints of extremities)
Macrophages eat crystals -> damages lysosomes -> lysing of lysosome
Lysing ->Inflammatory response

Front 60

Cardiolipin

Back 60

colds complexes 3 and 4 in ETC

Front 61

Niemann Pick

Back 61

absence of myelinogenase results in accumulation of sphingomyelin in lysosomes
Also known as lipidosis

Front 62

Multiple sclerosis

Back 62

Cause may include viral infection that precipitates autoimmue response

Front 63

Respiratory Distress Syndrome

Back 63

dipalmitoylphosphotidyl choline is main component for lowering lung surface tension (surfactant)
Results in hypoxaemia

Front 64

Kwashiorkor

Back 64

Edema, lack of sufficient proteins to maintain oncotic pressure
Inadequate growth, thinning of hair

Front 65

Gout

Back 65

Excessive absorption of purines in diet
Hyperuricemia & recurrent acute arthritis
Impaired excretion of uric acid
Urate crystals precipitate (esp. in joints of extremities)
Macrophages eat crystals -> damages lysosomes -> lysing of lysosome
Lysing ->Inflammatory response

Front 66

Other ABC transporter genetic disorders

Back 66

Zellweger, Tangier, Adrenoleukodystrophy, Sitosterolaemia

Front 67

Vitamin C

Back 67

required to keep prolyl/lysyl hydroxylase in active form (in Fe2+ form)
Leads to Scurvy

Front 68

Osteogenesis Imperfecta

Back 68

Complete dominance mutation (LOF) in a single copy of collagen type 1A1 (Type I) or 1A2 (Type 2—fatal)
Skeletal deformities b/o brittle bones
Defect in synthesis of Type I Collagen
(1 glycine to cysteine)
Type 1- decreased production of NORMAL
type 2- NOT PRODUCED

Front 69

Ehlers-Danlos Syndrome (EDS)

Back 69

hypermobile joints which frequently dislocate extensible skin, but bone is normal

Front 70

EDS Classical

Back 70

Col V gene mutation

Front 71

EDS Vascular

Back 71

Col3A1 mutation results in arterial, uterine fragility

Front 72

Alpha1 Antitrypsin deficiency

Back 72

Mutation in SERPINA 1, chr 14
Glutamate to lysine alteration at position 342 prevents secretion from liver
Elastase activity unregulated, resulting in destruction of lung tissue

Front 73

Lipidoses

Back 73

Lipid Lysosomal Storage Diseases
Normal biosynthesis, deficient lysosomal enzymes
Usually fatal

Front 74

Tay Sachs

Back 74

hexoamindase A deficiency leads to accumulation of GM2-ganglioside
Autosomal recessive
Complex lipids containing ceramide accumulate

Front 75

amino acids

Back 75

polar non polar

Front 76

polar AA

Back 76

acidic-glutamic acid, aspartic acid

Front 77

basic, neutral

Back 77

basic-hys lys arg
neutral- serine asparginine threnonine tyrosine glutamine cysts

Front 78

nonpolar

Back 78

glycine
alanine
valine
leucine
isoleucine
phenylalaine
tryptophan
methionine
proline

Front 79

Tense state hemoglobin

Back 79

high CO2, high H+, low pH...all charactersitcs of metabolically active tissue.
CO2 needs to come out of tissues, can bind to T state. CO2 thus converted to HCO3 and H+, high H+ = Hb loses affinity for oxygen
also production f 23 BPG.

Front 80

collagen triple helix

Back 80

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+

Front 81

respiratory acidosis

Back 81

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+

Front 82

respiratory alkalosis

Back 82

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+
use of diuretics to promote secretion of HCO3

Front 83

LDH

Back 83

serum, MI

Front 84

creatine kinase, CK

Back 84

serum, MI

Front 85

Phosphohexose isomerase

Back 85

serum, MI

Front 86

Aspartate aminotranserase

Back 86

serum, CSF
MI & Hepatitis

Front 87

Alanine aminotransferase

Back 87

serum, hepatitis

Front 88

alkaline phosphatase

Back 88

serum, liver and bone disease

Front 89

Acid Phosphatase

Back 89

serum, metastatis carcinoma of prostate gland

Front 90

a amylase

Back 90

serum and urine, panreatitis and pumps

Front 91

liver function tests

Back 91

bilirubin
albumin
AST/ALT (rule out liver for MI)
gamma GT

Front 92

MI

Back 92

myobglobin raised
CKMB
CKMB2:1 >1.5
LDH1>2
troponin

Front 93

GGT

Back 93

free radical production

Front 94

time course of MI

Back 94

myoglobin, CK, LDH, troponin

Front 95

PSA

Back 95

prostate cancer

Front 96

bHCG

Back 96

choriocinmoas, germ cell, liver cancer

Front 97

AFP

Back 97

liver cancer

Front 98

ALP

Back 98

liver disfunction

Front 99

padgets disease

Back 99

high ALP