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183 Cards in this Set
- Front
- Back
- 3rd side (hint)
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Tay-Sachs: what is deficient, what accumulates?
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a) deficiency = hexosaminidase A
b) accumulation = GM2 ganglioside |
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Gaucher Disease: what is deficient, what accumulates?
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a) deficiency = glucocerebrosidase
b) accumulation = glucocerebroside |
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Niemann-Pick Disease: what is deficient, what accumulates?
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a) deficiency = sphingomyelinase
b) accumulation = sphingomyelin |
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Hurler Disease: what is deficient, what accumulates?
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a) deficiency = alpha-L-iduronidase
b) accumulation = heparan sulfate and dermatan sulfate |
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von Gierke Disease: what is deficient, what accumulates?
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a) deficiency = glucose-6-phosphatase
b) accumulation = glycogen |
Type 1 gylcogenosis
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Pompe Disease: what is deficient, what accumulates?
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a) deficiency = alpha-1,4- glucosidase
b) accumulation = glycogen |
Type 2 gylcogenosis (you've got 2 pompis)
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Cori Disease: what is deficient, what accumulates?
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a) deficiency = amylo-1,6- glucosidase
b) accumulation = glycogen |
Type 3 gylcogenosis
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McArdle Syndrome: what is deficient, what accumulates?
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a) deficiency = muscle phosphorylase
b) accumulation = glycogen |
Type 5 gylcogenosis
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Galctosemia: what is deficient, what accumulates?
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a) deficiency = galactose-1-phosphate uridyl transferase
b) accumulation = galactose-1-phosphate |
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Phenylketonuria: what is deficient, what accumulates?
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a) deficiency = phenylalanine hydroxylase
b) accumulation = phenylalanine and its degradation products |
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Alkaptonuria: what is deficient, what accumulates?
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a) deficiency = homogentisic oxidase
b) accumulation = homogentisic acid |
urine turns dark on standing
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Lesch-Nyan: what is deficient, what accumulates?
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a) deficiency = HGPRT
b) accumulation = uric acid |
This one is X-linked recessive, NOT autosomal recessive
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Where do you see Birbeck granules?
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Langerhans cells of the skin
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What type of malignancy is associated with cigarette smoking?
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lung carcinoma, larynx carcinoma, and others...
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What type of malignancy is associated with excess sun exposure?
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skin cancers
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What type of malignancy is associated with alkylating agents?
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acute leukemia
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What type of malignancy is associated with asbestos?
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lung carcinoma, mesothelioma, GI cancers
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What type of malignancy is associated with smoked foods/nitrosamines?
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adenocarcinoma of the stomach
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What type of malignancy is associated with alcohol?
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carcinoma of mouth and esophagus (esp. in association w cigarette smoking)
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What type of malignancy is associated with arsenic?
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skin cancers (squamous cell and basal cell)
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What type of malignancy is associated with a low fiber diet?
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adenocarcinoma of the colon
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What type of malignancy is associated with a high-fat diet?
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breast carcinoma
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What type of malignancy is associated with aniline dyes/beta-naphthylamine/aromatic amines?
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transitional cell carcinoma of bladder (bladder mucosal glucuronidase converts glucuronides...)
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What type of malignancy is associated with aflatoxin B1?
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hepatocellular carcinoma
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What type of malignancy is associated with benzene?
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acute leukemia
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What type of malignancy is associated with polyvinyl chloride?
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hepatic hemangiosarcoma (angiosarcoma)
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What type of malignancy is associated with thorotrast?
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hepatic hemangiosarcoma (angiosarcoma)
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What type of malignancy is associated with diethylstilbestrol (DES)?
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clear-cell adenocarcinoma of the vagina
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What type of malignancy is associated with nickel, chromium, or uranium?
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carcinoma of the lung
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Translocation 8;14
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Burkitt lymphoma
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c-myc proto-oncogene
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Translocation 14;18
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follicular lymphoma
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bcl-2
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Translocation 9;22
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CML
"Philadelphia chromosome" |
bcr-abl
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BRCA-1
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inactivation leads to familial tendency for breast and ovarian cancers
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BRCA-2
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inactivation leads to familial tendency for breast cancers (but not ovarian cancers)
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What does Rb normally do?
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inhibits G1 to S progression
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What does p53 normally do?
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inhibits G1 to S progressio
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Orotic aciduria: what is deficient, what is the problem?
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a) deficient = orotic acid phosphoribosyltransferase or orotidine 5'-phosphate decarboxylase
b) problem = orotic acid can't be converted to UMP |
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What are the symptoms and signs of orotic aciduria?
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orotic acid in the urine, megaloblastic anemia. No hyperammonemia
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What does adenosine deaminase do?
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converts adenosine to inosine
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What does HGPRT do?
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converts guanine to GMP and hypoxanthine to IMP
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What is the MOA of hydroxyurea?
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inhibits ribonucleotide reductase
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What is the MOA of 6-MP?
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inhibits PRPP synthase
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What is the MOA of trimethoprim?
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inhibits dihydrofolate reductase
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What is the MOA of 5-FU?
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inhibits thymidylate synthase
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What is the MOA of 6-MP?
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inhibits dihydrofolate reductase
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What is the MOA of micofenolate?
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inhibits IMP dehydrogenase
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What is the MOA of fluoroquinolones?
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inhibits DNA gyrase (which is a specific prokaryotic topoisomerase)
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Which prokaryotic enzyme does most of the work of leading and lagging strand synthesis?
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DNA pol III
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What kind of proofreading does DNA pol III have?
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the typewriter kind
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Which prokaryotic enzyme degrades RNA primer and fills in the gap with DNA?
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DNA pol I
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Which prokaryotic enzyme has 5' to 3' exonuclease activity?
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DNA pol I
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What DNA repair mechanism is messed up in xeroderma pigmentosum?
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nucleotide excision repair
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What DNA repair mechanism is messed up in hereditary nonpolyposis colorectal cancer?
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mismatch repair
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which direction does protein synthesis go in?
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N to C (it works nine to clock-out)
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What is the MOA of tetracyclines?
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they bind the 30S subunit, preventing the attachment of aminoacyl-t-RNA
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What is the MOA of aminoglycosides?
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inhibit formation of the protein synthesis initiation complex
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What is the MOA of chloramphenicol?
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inhibits 50S peptidyltransferase
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What is the MOA of streptogramins?
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inhibits 50S peptidyltransferase
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What is the MOA of macrolides?
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bind 50S, blocking translocation
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What is the MOA of streptogramins?
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bind 50S, blocking translocation
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What are Nissl bodies?
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the RER of neurons
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Where in a neuron is the Nissl body found
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dendrites, NOT axons
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The Golgi apparatus targets certain proteins to lysosomes by adding what?
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mannose-6-phosphate
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What is the biochemical problem in I-cell disease?
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mannose-6-phosphate is not added to lysosome proteins
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In which direction is dynein motion?
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retrograde (detras) + to -
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In which direction is kinesin motion?
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anterograde (keep moving ahead) - to +
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What is the biochemical problem in Kartagener's syndrome?
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dynein arm defect, resulting in immotile cilia
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What is the biochemical problem in Chediak-Higashi syndrome?
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microtubule polymerization defect, resulting in decreased phagocytosis
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What would a high cholesterol content do to a plasma membrane?
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decrease fluidity and raise the melting temp.
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vimentin stains for...?
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connective tissue
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desmin stains for...?
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muscle
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cytokeratin stains for...?
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epithelial cells
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GFAP stains for...?
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neuroglia
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"neurofilaments" stain for...?
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neurons
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Synthesis of which type of collagen is most often messed up in Ehler-Danlos syndrome?
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Type III
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which type of collagen is "strong"?
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1
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which type of collagen is "slippery"?
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2
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which type of collagen is "bloody"?
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3
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which type of collagen is "BM"?
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4
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What is the role of vitamin C in collagen synthesis?
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hydroxylation of specific proline and lysine residues
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Every third amino acid in an alpha collagen chain is....?
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glycine (structure is glycine-X-Y)
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which amino acid residues get glycosylated in collagen synthesis?
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lysine
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which part of collagen synthesis goes wrong in osteogenesis imperfecta?
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triple helix formation
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which part of collagen synthesis goes wrong in Ehler-Danlos?
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crosslinkage of lysine and hydroxylysine
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At what point does collagen synthesis move from the cytosol to the extracellular space?
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after formation of the procollagen chain (triple helix)
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which type of osteogenesis imperfecta is worse, type 1 or 2?
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type 2 (fatal in utero or neonatal period)
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What is the underlying defect in Alport's?
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abnormal type IV collagen
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What is this disease: "can't see, can't pee, can't hear"?
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Alport's
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Elastin is rich in which amino acids?
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proline and glycine (like collagen but minus the lysine) (I think)
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which chromosome is implicated in Prader-Willi's and Angelman's syndromes?
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15
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In Prader-Willi's is imprinting maternal or paternal?
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maternal imprinting
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In Prader-Willi's is a maternal or paternal gene deleted?
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paternal gene deletion
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In Angelman's is imprinting maternal or paternal?
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paternal imprinting
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In Angelman's is a maternal or paternal gene deleted?
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maternal gene deletion
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What is the "happy puppet" syndrome?
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Angelman's
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What type of inheritance is seen in hypophosphatemic rickets?
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X-linked dominant
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What type of inheritance is seen in Leber's hereditary optic neuropathy?
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mitochondrial
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What is the mnemonic "Try hunting for my fried eggs" about?
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diseases with trinucleotide repeat expansion:
Huntington's, myotonic dystrophy, Friederich's ataxia, fragile X syndrome |
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What type of inheritance is seen in achondroplasia?
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autosomal dominant
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What type of inheritance is seen in familial adenomatous polyposis?
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autosomal dominant
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What type of inheritance is seen in familial hypercholesterolemia?
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autosomal dominant
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What type of inheritance is seen in Osler-Weber-Rendu syndrome?
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autosomal dominant
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What type of inheritance is seen in hereditary spherocytosis?
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autosomal dominant
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What type of inheritance is seen in Huntington's?
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autosomal dominant
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What type of inheritance is seen in Marfan's?
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autosomal dominant
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What type of inheritance is seen in MEN syndromes?
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autosomal dominant
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What type of inheritance is seen in neurofibromatosis?
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autosomal dominant
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What type of inheritance is seen in tuberous sclerosis?
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autosomal dominant
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What type of inheritance is seen in von Hippel Lindau?
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autosomal dominant
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What type of inheritance is seen in Ehler Danlos?
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autosomal dominant or autosomal recessive
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What type of inheritance is seen in (general) albinism?
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autosomal recessive
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What type of inheritance is seen in hemochromatosis?
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autosomal recessive
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What type of inheritance is seen in PKU?
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autosomal recessive
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What type of inheritance is seen in sickle cell anemias?
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autosomal recessive
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What type of inheritance is seen in thalassemias?
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autosomal recessive
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What type of inheritance is seen in Bruton's agammaglobulinemia?
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X-linked recessive
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What type of inheritance is seen in Wiskott-Aldrich syndrome?
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X-linked recessive
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What type of inheritance is seen in Fabry's?
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X-linked recessive
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What type of inheritance is seen in G-6-PD deficiency?
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X-linked recessive
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What type of inheritance is seen in ocular albinism?
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X-linked recessive
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What type of inheritance is seen in Lesch-Nyhan?
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X-linked recessive
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What type of inheritance is seen in Duchenne's?
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X-linked recessive
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What type of inheritance is seen in Becker's?
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X-linked recessive
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What type of inheritance is seen in Hunter's?
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X-linked recessive
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What type of inheritance is seen in hemophilia A and B?
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X-linked recessive
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what trisomy is Edward's?
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18 (election age: 18)
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what trisomy is Patau's?
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13 (age at puberty: 13)
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micrognathia is a buzzword for which chromosomal defect?
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edward's
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clenched hands is a buzzword for which chromosomal defect?
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edwards
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holoprosencephaly is a buzzword for which chromosomal defect?
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patau's
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polydactyaly is a buzzword for which chromosomal defect?
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patau's
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cleft lip/palate is a buzzword for which chromosomal defect?
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patau's
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What is the chromosomal problem in Cri-du-chat?
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microdeletion on 5
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"elfin facies" is a buzzword for which chromosomal defect?
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Williams
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"unusually friendly and gregarious" is a buzzword for which chromosomal defect?
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Williams
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what chromosomal defect is associated with DiGeorge?
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microdeletion on 22q11
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What is the chromosomal problem in William's?
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microdeletion on 7
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What causes ethanol hypoglycemia?
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ethanol metabolism produces NADH and uses up NAD+
The excess NADH drives pyruvate to lactate and oxaloacetate to malate. This inhibits gluconeogenesis. |
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Where does fatty acid oxidation take place?
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mitochondria
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Where does acetyl CoA production take place?
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mitochondria
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Where does the TCA cycle take place?
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mitochondria
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Where does oxidative phosphorylation take place?
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mitochondria
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Where does ketone synthesis take place?
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mitochondria
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Where does glycolysis take place?
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cytoplasm
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Where does fatty acid synthesis take place?
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cytoplasm
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Where does the HMP shunt take place?
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cytoplasm
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cancer-wise, what should "collagenases and hydrolases" make you think of?
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cancer cells invade the basement membrane, becoming invasive
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Is abl an oncogene or a tumor suppressor gene and what cancer(s) is it associated with?
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a) oncogene
b) CML |
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Is c-myc an oncogene or a tumor suppressor gene and what cancer(s) is it associated with?
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a) oncogene
b) Burkitt's lymphoma |
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Is bcl-2 an oncogene or a tumor suppressor gene and what cancer(s) is it associated with?
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a) oncogene
b) follicular lymphoma and undifferentiated lymphomas |
bcl-2 inhibits apoptosis
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Is erb-B2 an oncogene or a tumor suppressor gene and what cancer(s) is it associated with?
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a) oncogene
b) breast, ovarian, gastric carcinomas |
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Is ras an oncogene or a tumor suppressor gene and what cancer(s) is it associated with?
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a) oncogene
b) colon carcinoma |
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Is L-myc an oncogene or a tumor suppressor gene and what cancer(s) is it associated with?
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a) oncogene
b) lung tumors |
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Is N-myc an oncogene or a tumor suppressor gene and what cancer(s) is it associated with?
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a) oncogene
b) neuroblastoma |
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Is ret an oncogene or a tumor suppressor gene and what cancer(s) is it associated with?
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a) oncogene
b) MEN types 2 and 3 |
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Is c-kit an oncogene or a tumor suppressor gene and what cancer(s) is it associated with?
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a) oncogene
b) gastrointestinal stromal tumor |
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Is Rb an oncogene or a tumor suppressor gene and what cancer(s) is it associated with?
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a) tumor suppressor gene
b) retinoblastoma, osteosarcoma |
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Is BRCA 1 an oncogene or a tumor suppressor gene and what cancer(s) is it associated with?
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a) tumor suppressor gene
b) breast AND ovarian cancer |
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Is BRCA-2 an oncogene or a tumor suppressor gene and what cancer(s) is it associated with?
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a) tumor suppressor gene
b) just breast cancer |
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Is p53 an oncogene or a tumor suppressor gene and what cancer(s) is it associated with?
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a) tumor suppressor gene
b) most human cancers, Li-Fraumeni syndrome |
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Is p-16 an oncogene or a tumor suppressor gene and what cancer(s) is it associated with?
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a) tumor suppressor gene
b) melanoma |
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Is APC an oncogene or a tumor suppressor gene and what cancer(s) is it associated with?
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a) tumor suppressor gene
b) colorectal cancer (assoc with familial adenomatous polyposis) |
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Is WT1 an oncogene or a tumor suppressor gene and what cancer(s) is it associated with?
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a) tumor suppressor gene
b) Wilms' tumor |
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Is NF1 an oncogene or a tumor suppressor gene and what cancer(s) is it associated with?
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a) tumor suppressor gene
b) neurofibromatosis type 1 |
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Is NF2 an oncogene or a tumor suppressor gene and what cancer(s) is it associated with?
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a) tumor suppressor gene
b) neurofibromatosis type 2 |
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Is DPC an oncogene or a tumor suppressor gene and what cancer(s) is it associated with?
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a) tumor suppressor gene
b) pancreatic cancer (Deleted in Pancreatic Cancer) |
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Is DCC an oncogene or a tumor suppressor gene and what cancer(s) is it associated with?
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a) tumor suppressor gene
b) colon cancer (Deleted in Colon Cancer) |
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Is VHL an oncogene or a tumor suppressor gene and what cancer(s) is it associated with?
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a) tumor suppressor gene
b) von Hippel Lindau |
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What cancer(s) would result in elevated PSA?
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prostate carcinoma
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What cancer(s) would result in elevated prostatic acid phosphatase?
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prostate carcinoma
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What cancer(s) would result in elevated CEA?
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colorectal, pancreatic, gastric, breast
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it's very non-specific, obviously
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What cancer(s) would result in elevated alpha-fetoprotein?
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hepatocellular, yolk sac tumor
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What cancer(s) would result in elevated beta-hCG?
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choriocarcinoma
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What cancer(s) would result in elevated CA-125?
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ovarian (epithelial type)
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What cancer(s) would result in elevated S-100?
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melanoma, astrocytoma
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What cancer(s) would result in elevated bombesin?
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neuroblastoma
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What cancer(s) would result in elevated TRAP?
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hairy cell leukemia
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What cancer(s) would result in elevated CA 19-9?
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pancreatic adenocarcinoma
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raised ACTH or ACTH-like peptide is a paraneoplastic syndrome assoc w/ which kind of cancer?
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small cell lung carcinoma
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SIADH is a paraneoplastic syndrome assoc w/ which kind of cancer?
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small cell lung carcinoma (also intracranial neoplasms)
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Lambert-Eaton syndrome is a paraneoplastic syndrome assoc w/ which kind of cancer?
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small cell lung carcinoma (also thymoma)
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PTH-related-peptide is a paraneoplastic syndrome assoc w/ which kind of cancer?
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squamous cell lung carcinoma, (also renal cell carcinoma and breast carcinoma)
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What conditions might lower ESR?
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polycythemia (too many), sickle cell anemia, CHF
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