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219 Cards in this Set
- Front
- Back
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MOA of hydroxyurea
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inhibits ribonucleotide reductase
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MOA of 6-mercaptopurine (6MP)
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blocks de novo purine synthesis
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MOA of 5-fluorouracil (5FU)
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inhibits thymidylate synthase
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MOA of methotrexate
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inhibits dihydrofolate reductase
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difference between euchromatin and heterochromatin
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euchromatin is LESS condensed and transcriptionally ACTIVE; heterochromatin is MORE condensed and transcriptionally INACTIVE
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difference between uracil and thymine
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uracil is found in RNA and thymine is found in DNA
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type of bind that links nucleotides
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3'-5' phosphodiesterase bonds
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Characterized by retardation, self-mutilation, aggression, hyperuricemia, gout, choreoathetosis
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Lesch Nyhan syndrome
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enzyme deficiency in Lesch-Nyhan syndrome
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HGPRT
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amino acid encoded for by only 1 codon (AUG)
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methionine
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difference between a missense and nonsense mutation
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missense mutations create a new amino acid; nonsense mutations create a stop codon
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function of helicase
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unwinds DNA
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function of topoisomerase
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relieves supercoils
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function of ligase
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seals the DNA
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nucleotide excision repair is dysfunctional in this disease thus preventing the repair of thymidine dimers
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xeroderma pigmentosum
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mismatch repair is dysfunctional in this disease
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hereditary nonpolyposis colorectal cancer
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direction of synthesis of DNA and RNA
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5' to 3'
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location in the cell where RNA processing occurs
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nucleus
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this class of antibiotics binds to the 30S ribosomal subunit preventing the attachment of aminoacyl tRNA
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tetracyclines (i.e. doxycycline)
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this class of antibiotics inhibits the formation of the initiation complex and causes misreading of the mRNA
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aminoglycosides (i.e. neomycin, spectomycin, gentamycin)
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this class of drugs binds to the 50S ribosomal subunit and blocks translocation
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macrolides (i.e. erythromycin, clarithromycin, azithromycin)
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part of the cell where steroids are synthesized and where drugs/poisons are detoxified
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smooth endoplasmic reticulum
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molecular motor protein that is organized retrograde to the microtubule
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dynein
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molecular motor protein that is organized anterograde to the microtubule
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kinesin
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organizational structure of ciliary microtubules
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9+2
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anti-helminth drug that acts on microtubules
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mebendazole
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anticancer drug that acts on microtubules
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vincristine/paclitaxel
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anti-breast cancer drug that acts on microtubules
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paclitaxel (taxol)
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anti-gout drug that acts on microtubules
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colchicine
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Drug that directly inhibits the Na+/K+ ATPase leading to indirect inhibition of the Na/Ca exchange; thus increasing calcium concentration
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digoxin (digitalis)
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most abudant protein in the body
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collagen
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type of cartilage found in bone, skin, and tendons
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type 1
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type of collagen found in cartilage
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type 2
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vitamin required for collagen synthesis
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vitamin C
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disease characterized by hyperextensible skin, increasing bleeding, hypermobile joints, and increased risk for berry aneurysm
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ehlers danlos syndrome
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type of collagen most affected in ehlers danlos syndrome
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type III
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disease caused by type IV collagen mutation leading to nephritis, deafness, blindness, and death if undiscovered
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alport syndrome
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protein that is mutated in marfan's syndrome
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fibrillin
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major difference between southern, northern, and western blots
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southern (DNA), northern (RNA), western (protein)
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disease characterized by male infertility, bronchiectasis, recurrent sinusitis, and increased risk for situs inversus
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Kartagener's syndrome
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defect in fibroblast growth factor receptor 3 (FGFR3) leading to dwarfism
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achondroplasia
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disease characterized by an absent or defective LDL receptor
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familial hypercholesterolemia
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disorder of blood vessels leading to telangiectasia, epistaxis, skin discolorations, arteriovenous malformations
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osler-weber-rendu syndrome (hereditary telangiectasia)
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disease caused by spectrin or ankyrin mutations
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hereditary spherocytosis
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characterized by cafe-au-lait spots, lisch nodules, scoliosis, and optic gliomas
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NF type 1
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characterized by bilateral acoustic schwannomas and juvenile cataracts
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NF type 2
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characterized by defective Cl- channels, chronic bronchitis, pancreatic insufficiency, meconium ileus, and infertility in males
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cystic fibrosis
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defective gene in cystic fibrosis
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CFTR
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defective protein in Duchenne's
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dystrophin (DMD gene)
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characterized by enlarged testes, long face with a long jaw, everted ears, autism, and MVP
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fragile x
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most common cause of mental retardation in males
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fragile x (FMR1 gene)
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most common cause of mental retardation overall
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Down syndrome
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trinucleotide repeat in huntingtons
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CAG
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trinucleotide repeat in fragile x
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CGG
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trinucleotide repeat in Friedreich's ataxia
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GAA
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characterized by mental retardation, flat facies, epicanthal folds, simian creases, congenital heart disorder, increased risk for ALL, and early-onset alzheimer's disease
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Down syndrome
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trisomy 21
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Down syndrome
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results of pregnancy screens in Down syndrome fetus
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decreased AFP, decreased estriol, increased B-hCG, increased inhibin A
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trisomy 18
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Edwards syndrome
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trisomy 13
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Patau's syndrome
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most common genetic mutation causing Down syndrome
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meiotic nondisjunction
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2nd most common genetic mutation causing Down syndrome
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translocation (Robertsonian)
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genetic disease characterized by severe mental retardation and very high pitched crying
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cri-du-chat ("cry of the cat")
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22q11 deletion
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DiGeorge syndrome (and velocardiofacial syndrome)
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caused by defective development of the 3rd and 4th branchial pouches
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DiGeorge syndrome
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fat soluble vitamins
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A,D,E,K
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water soluble vitamins
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B,C
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B vitamin stored in liver
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B12
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symptoms of vitamin A deficiency
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night blindness and dry skin
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disease characterized by confusion, ophthalmoplegia, ataxia, confabulation, and permanent memory loss
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Wernicke Korsakoff syndrome
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specific regions of the brain affected by wernicke korsakoff syndrome
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medial dorsal nucleus and mamillary bodies
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thiamine deficiency in non-alcoholics
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beri beri
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vitamin deficiency characterized by cheilosis and corneal vascularization
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riboflavin (B2)
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the 3 D's of pellagra
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diarrhea, dermatitis, and dementia
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vitamin deficiency characterized by glossitis, and an increased risk for pellagra and carcinoid syndrome
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niacin (B3)
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main SE of niacin overdose
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cutaneous flushing (pretreat with aspirin 30 minutes prior)
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deficiency of this vitamin can be precipitated by oral contraceptives and cause peripheral neuropathies
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pyridoxine (B6)
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vitamin requiring intrinsic factor for its absorption
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B12
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time period in which folic acid must be supplemented in large quantities in pregnancy
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first 4 weeks
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storage form of vitamin D
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25-OH D3
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form of vitamin D formed from sun exposure
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cholecalciferol (D3)
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active form of vitamin D
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1,25-(OH)2D3 (calcitriol)
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vitamin D deficiency in children
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Rickets
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vitamin D deficiency in adults
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osteomalacia
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drug that is a vitamin K antagonist
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warfarin
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vitamin deficiency likely after prolonged antibiotic use
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vitamin K
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inhibits alcohol dehydrogenase and is an antidote for methanol or ethylene glycol toxicity
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fomepizole
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inhibits acetaldehyde dehydrogenase thus contributing to hangover symtpoms
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disulfiram
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main method of metabolism during binge drinking
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MEOS system (normally should be only 5% of alcohol metabolism)
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main cytochrome P450 enzyme activated by alcohol metabolism
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CYP2E1
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toxic metabolite formed from CYP2E1 metabolism of acetaminophen
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NAPQI
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ratio increased in liver by ethanol metabolism
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NADH/NAD ratio
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group of enzymes that use ATP to add highenergy phosphate groups onto a substrate
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kinases
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rate limiting enzyme of glycolysis
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PFK-1
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rate limiting enzyme of gluconeogenesis
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F-1,6-BP
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rate limiting enzyme of HMP shunt
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G6PD
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rate limiting enzyme of cholesterol synthesis
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HMG-CoA reductase
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rate limiting enzyme of the urea cycle
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carbamoyl phosphate synthetase I
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this metabolite can either enter the TCA cycle by forming acetyl-CoA, enter the TCA cycle in the form of oxaloacetate, is interchangeable with lactate, or is interchangeable with alanine
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pyruvate
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anaerobic glycolysis produces how many ATP per glucose
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2
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aerbobic glycolysis produces how many ATP per glucose
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30-32
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location of glucokinase vs. hexokinase
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glucokinase is only in the liver and beta cells of the pancreas; hexokinase is everywhere else
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net equation for glycolysis
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glucose + 2Pi + 2ADP + 2NAD -> 2pyruvate + 2ATP + 2NADH + 2H + 2H2O
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3 main irreversible regulatory enzymes of glycolysis
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gluco/hexokinase, PFK-1, pyruvate kinase
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4 main irreversible enzymes of gluconeogenesis
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Glucose-6-phosphatase, F-1,6-bisphosphatase, PEP carboxykinase, and pyruvate carboxylase
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effect on F-2,6-P on glycolysis and gluconeogensis
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F-2,6-P increases glycolysis and inhibits gluconeogenesis
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enzyme required to convert pyruvate into acetyl CoA
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pyruvate dehydrogenase complex (requires B1,B2,B3,B5)
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where in the cell does the TCA cycle occur
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mitochondria
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link between the TCA cycle and urea cycle
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fumarate
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link between glycolysis and glycogenesis
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G-6-P
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X linked disoder, more prevelant among blacks, increased malarial resistance, MOST common enzyme deficiency in humans
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G6PD deficiency
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deficient enzyme in fructosuria
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fructokinase
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deficient enzyme in fructose intolerance
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aldolase B
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characterized by failure to thrive, jaundice, hepatomegaly, infantile cataracts, and mental retardation
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classic galactosemia
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deficient enzyme in classic galactosemia
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galactose-1-phosphate uridyltransferase
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Enzyme deficiency characterized by hypoglycemia, jaundice, cirrhosis, and vomiting
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fructose intolerance
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enzyme required to convert glucose into sorbitol
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aldolase reductase
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enzyme required to convert sorbitol into fructose
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sorbitol dehydrogenase
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characterized by bloating, cramps, and osmotic diarrhea after consuming dairy products
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lactase deficiency
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location of lactase enzyme in the body
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brush border of the gut
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3 compounds that come together to form urea
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ammonium, carbon dioxide, aspartate
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intoxication characterized by tremor, slurring of speech, somnolence, vomiting, cerebral edema, and blurring of vision
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ammonia intoxication
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MOST common urea cycle disorder, usually evident first few days of life, orotic acid in the blood and urine
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ornithine transcarbamoylase deficiency
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precursor for serotonin and niacin
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tryptophan
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precursor of dopamine
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tyrosine
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precursor for heme
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glycine
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precursor for GABA
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glutamate
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2 possible deficient enzymes causing PKU
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phenylalanine hydroxylase or tetrahydrobiopterin
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characterized by mental retardation, growth retardation, seizures, fair skin, eczema, musty body odor
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PKU
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characterized by black urine when standing and brown sclera
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alkaptonuria
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deficient enzyme in alkaptonuria
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homogentistic acid oxidase
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deficient enzyme in albinism
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tyrosinase
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characterized by lack of melanin and increased risk of skin cancer
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albinism
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2 possible enzyme deficiencies causing homocystinuria
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cystathionine synthase and homocysteine methyltransferase
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characterized by mental retardation, osteoporosis, tall stature, kyphosis, lens subluxations, and atherosclerosis
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homocystinuria
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deficiency of alpha ketoacid dehydrogenase
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MSUD
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3 branched amino acids found in the urine in MSUD
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isoleucine, leucine, valine (branched)
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characterized by increased tryptophan in the urine and decreased absorption in the gut; increases risk for pellagra
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hartnup disease
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2 types of bonds found in glycogen
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alpha (1,6) and alpha (1,4)
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glucose-6-phosphatase deficiency
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Von Gierke's disease
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alpha (1,4) glucosidase deficiency
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Pompe's disease
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alpha (1,6) glucosidase deficiency
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Cori's disease
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glycogen phosphorylase deficiency (in the muscle)
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McArdle's disease
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only major difference between Von Gierke's disease and Cori's disease
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increase lactate in Von Gierke's and normal lactate in Cori's disease
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characterized by extremely painful muscle cramps and myoglobinuria during exercise
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McArdle's disease
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characterized by severe fasting hypoglycemia, massive increases in glycogen storage levels, increased blood lactate, and hepatosplenomegaly
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Von Gierke's disease
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alpha-galactosidase A deficiency
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Fabry's disease
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beta-glucocerebrosidase deficiency
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Gaucher's disease
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sphingomyelinase deficiency
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Niemann Pick disease
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hexosaminidase A deficiency
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Tay Sachs disease
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galactocerebrosidase deficiency
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Krabbe's disease
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arylsulfatase A deficiency
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metachromatic leukodystrophy
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alpha-L-iduronidase deficiency
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Hurler's syndrome
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Iduronate sulfatase deficiency
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Hunter's syndrome
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accumulation of ceramide trihexoside indicates what disease
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Fabry's disease
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accumulation of heparan sulfate and dermatan sulfate indicate what 2 possible diseases
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Hurler's syndrome and Hunter's syndrome
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macrophages that look like crumpled tissue paper
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Gaucher cells
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cherry red spot on macula
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Niemann Pick AND Tay Sachs
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angiokeratomas along with peripheral neuropathies and cardiac/renal disease suggest what disease
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Fabry's disease
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lysosomes with onion skin suggest what storage disorder
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Tay Sach's disease
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optic atrophy and globoid cells suggest what storage disease
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Krabbe's disease
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characterized by gargoylism, airway obstructions, and corneal clouding
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Hurler's syndrome
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the ONLY 2 lysosomal storage disease that are NOT autosomal recessive but rather X-linked recessive
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Hunter's syndrome and Fabry's disease
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increased incidence of Tay Sachs, Niemann Pick, and Gaucher's in what group of people
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Ashkenazi Jews
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key enzyme needed for the breakdown of fatty acids
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carnitine
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key enzyme needed for the synthesis of fatty acids
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citrate
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initial building block of fatty acids
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acetyl-CoA
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2 main ketones
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acetoacetate and beta-hydroxybutyrate
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child presents with fruity odor on his breath and wanes in and out of consciousness; what state is he likely in
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diabetic ketoacidosis
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1g of protein or carbs equals how many kcal?
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4 kcal
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1g of fat equals how many kcal?
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9 kcal
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glycogen reserves are depleted after how long during starvation
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about 24 hours
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enzyme that degrades triglycerides within the chylomicrons
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LPL
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enzyme that converts nascent HDL into mature HDL
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LCAT
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major apolipoprotein that binds to the LDL receptor
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apoB100
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major apolipoprotein that regulates chylomicrons
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apoB48
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what form of cholesterol transports fats from the periphery to the liver
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HDL
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major apolipoprotein that regulates HDL
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apoC and apoE
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most common location of xanthomas in people with familial hypercholesterolemia
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achilles tendon
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abetalipoproteinemia is caused by a deficiency in what 2 major apolipoproteins
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apoB100 and apoB48
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characterized by failure to thrive, steatorrhea, acanthocytosis, ataxia, night blindness
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abetalipoproteinemia
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child presents with jerky, dance-like movement of the extremities and an acute case of gout; PMH is positive for mental retardation, aggression, and self-mutilation
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Lesch-Nyhan syndrome
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what is a transversion mutation
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replacing a purine with a pyrimidine (or vice a versa)
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what is a transition mutation
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replacing a purine with another purine (or pyrimidine for another pyrimidine)
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what is a substitution mutation
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general term meaning either a transversion or transition mutation
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young child presents with persistent stiffness in joints and progressive difficulty seeing; it's noted during the PE that he has coarse facial features; lab values reveal high levels of lysosomal enzymes
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I-cell disease
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inherited lysosomal storage disorder characterized by failure of the addition of mannose-6-phosphate to lysosomal proteins
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I-cell disease
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a couple seeks medical advice from a fertility specialist; they have been trying for almost 2 years with no success; all tests on the female and her PMH are unremarkable; the PMH of the male is positive for recurrent pulmonary and sinus infection; what's the most likely problem
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Kartagener's syndrome
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microvilli are made from what cytoskeletal elements
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actin and myosin
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during collagen synthesis, vitamin C is required to hydroxylate what amino acids
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proline and lysine
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a mother brings her child in complaining that he is not growing much and she is worried that he may be retarded; during PE, it's noted that his hair very pale; enzyme tests for tyrosinase conclusively rule out albinism; a deficiency in lysyl oxidase is noted
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Menkes disease
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a mother brings her child in for a 4th bone fracture in the last 6 months; during the PE, it's noted that the child has blue sclera, hearing loss, and dental imperfections
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osteogenesis imperfecta
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a mother brings her child in saying that it appears he has been having trouble seeing; PE notes a general decrease in visual acuity but no specific losses in his fields on vision; his hearing is noted to be decreased, and RBCs are found in his urine
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Alport syndrome
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rapid immunological technique testing for antigen-antibody reactivity
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ELISA
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test which amplifies a desired fragment of DNA
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PCR
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patient presents with recent seizures and ataxia; PMH is remarkable for mental retardation and bouts an uncontrollable laughter
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angelman syndrome
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a child with mental retardation presents for a routine physical; PE is remarkable for obesity, hypotonia, and hypogonadism; PMH is positive for hyperphagia
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prader-willi syndrome
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mode of inheritance usually seen in males only, but a male can never directly transmit it to another male
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X-linked recessive
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mode of inheritance in which ALL female offspring of an affected father have the disease
|
X-linked dominant
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mode of inheritance in which only an infected mother can pass the disease to her offspring
|
mitchondrial inheritance
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mode of inheritance in which the disease is usually only seen once every few generations
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autosomal recessive
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mode of inheritance in which usually all generations are affected equally between males and females
|
autosomal dominant
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why are patients with cystic fibrosis normally infertile
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bilateral agenesis of the vas deferens
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DOC for cystic fibrosis
|
N-acetylcysteine
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where does the weakness of Duchenne's usually begin
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hip/pelvic girdle
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why is the clinical progression of Duchenne's more severe than Becker's when both disease involve the same gene
|
Duchenne's is characterized by a frame-shift mutation (worst kind of mutation)
Becker's is characterized by a single gene deletion (not as serious as frame-shift) |
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gene mutation in Fragile X syndrome
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FMR1 gene
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when a male child is born, he is noted to have a large jaw and large everted ears; in his early childhood, he is diagnosed with autism and it's noted that he is mentally retarded; a PE reveals macro-orchidism; as the child ages, his retardation worsens and he develops mitral valve prolapse; what's the underlying condition
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Fragile X syndrome
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an 8 month old child dies; autopsy reveals cleft lip and palate and holoprosencephaly; PMH was remarkable for polydactyly, rocker-bottom feet, and severe mental retardation
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Patau's syndrome (trisomy 13)
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an 8 month old child dies; his PMH was remarkable for severe mental retardation, rocker-bottom feet, micrognathia (small jaw), and his hands were usually clenched
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Edward's syndrome (trisomy 18)
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fat-soluble vitamins are absorbed in what part of the intestines
|
ileum
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biochemical mechanism for how vitamin K affects clotting
|
Vit K catalyzes y-carboxylation of glutamic acid residues of clotting proteins
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2 morphologic features of G6PD deficiency
|
Heinz bodies (denatured hemoglobin) and Bite cells
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what are the essential amino acids
|
("PVT TIM HALL")
Phenylalanine Valine Tryptophan Threonine Isoleucine Methionine Histidine Arginine Lysine Leucine |
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apolipoprotein that helps activate LPL
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C-II
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apolipoprotein that helps activate LCAT
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A-IV
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which apolipoprotein helps secrete the chylomicron
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B-48
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which apolipoprotein mediates reuptake of chylomicrons
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ApoE
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where are chylomicrons formed
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intestinal epithelial cells
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