Term
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Definition
| Prion proteins are located on the surface of neurons and are high in a-helixes and low in B-sheets. When a-helixes are converted to B-sheets prions are converted to an infectious, neurotoxin form. |
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Term
| Flurescein-labeled annex V |
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Definition
| Binds with phosphatidylserine (normally on inner leaflet), indicating an apoptotic cell |
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Definition
| Blocks Na channels; cell is not able to depolarize; no APs |
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Definition
| Block voltage gated Ca channels; help correct cardiac arrhythmias and BP |
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Definition
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Term
| Glycosides (digoxin or ouabain) |
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Definition
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Term
| GLUT 1 deficiency syndrome |
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Definition
Cause: mutation in GLUT 1
Sx: early onset encephalopathy; seizures; development delay; hypotonia; complex movement disorder; hypoglycorrhachia - low BS in cerebrospinal fluid
Tx: High ketogenic diet |
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Term
| sulfonylureas (glyburide) |
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Definition
| blocks sulfonylurea receptors which block K channels; beta cell remains depolarized so exocytosis of insulin increases |
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Term
| Familial Persistent Hyperinsulinemic Hypoglycemia of Infancy |
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Definition
| Mutation of sulfonylurea receptor; beta cell remains depolarized so exocytosis of insulin increases |
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Term
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Definition
Cause: defect in intestinal and renal absorption of neutral AA
Sx: increased excretion of neutral AA; niacin deficiency (industrialized and non industrialized); neuro problems (nonindustrialized) |
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Term
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Definition
Cause: defect in intestinal and renal absorption of cationic AA and cystine
Sx: increased excretion of cationic AA; cystine stones and kidney damage
Tx: Alkalinization of urine; increase urine production; penicillamine increases the solubility of cystine |
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Term
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Definition
Cause: defect in efflux of cystine from lysosomes due to mutation in cystine transporter (in all tissues)
Sx: Damage to tissues due to cystine crystallization which ruptures lysosomes which release lysosome enzymes; kidney damage leads to polyuria, severe dehydration, glucosuria, and generalized AA aciduria; neuro damage
Tx: penicillamine |
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Term
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Definition
"before old age" - premature aging
Cause: Defect in Lamin A |
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Term
| Lesch-Nyhan syndrome and Kelley-Seegmiller syndrome |
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Definition
Cause: HPRT deficiency
Sx: hyperuricemia; gout; nephrolithiasis; renal damage; severe mental retardation; and self mutilation (not in KSS)
Tx: Allopurinol to reduce uric acid |
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Term
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Definition
| kidney stones due to adenine converted to 2,8 - dihydroxyadenine (similar to uric acid) by XO |
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Term
| ADA deficiency and SCID (Severe combined immonodeficiency) |
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Definition
ADA also acts on dATP, so levels of dATP go up; dATP is an inhibitor of ribonucleotide reductase, inhibiting synthesis of DNA, interfering with proliferation of immunity cells
50% of pts with SCID have ADA deficiency; SCID is associated with impairment of immunity - low levels of antibodies = nonpalpable lymph nodes; bubble boys |
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Term
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Definition
| Used in tx of leukemia; HPRT and PRPP (salvage pathway) convert it to 6-mercaptopurine ribonucleoside monophosphate which inhibits amido PRT, and it inhibits conversion of IMP to AMP and GMP. Allopurinol enhances half-life |
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Term
| Hereditary orotic aciduria |
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Definition
Cause: defective de novo synthesis of pyrimidines - mutations in UMP synthase
Sx: severe anemia, growth retardation, and high urinary orotic acid
Tx: Exogenous uridine is converted to UMP which is converted to UDP and UTP, inhibiting CPS II |
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Term
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Definition
| used in tx of colon CA and other CAs; is converted ot FUTP and FdUMP; FUTP interferes with pre-mRNA processing; FdUMP inhibits thymidylate synthetase |
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Definition
| Used in CA tx; Inhibits DHF reductase which is necessary for thymidylate synthetase |
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Term
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Definition
| Tx for TB; binds to RNA Polymerase beta subunit -> transcriptional paralysis after 2 nt |
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Term
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Definition
| Tx for CA; intercalates DNA, distorting template for RNA synthesis -> stops transcription |
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Term
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Definition
| hepatotoxin; liver mRNAs are degraded and not replaced; inhibits largest subunit of RNAP II |
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Definition
| neuronal toxin; affects 28S subunit; A is depurinated by ricin which is susceptible to hydrolysis. Cleaved subunit loses ribozyme activity and translation stops |
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Term
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Definition
| Degrades a protein in eIF-4, so that eIF-4 can no longer bind to mRNA cap, but eIF-4 can still bind to polio internal ribosome entry site, so viral mRNA is favored |
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Term
| Corynebacterium diptheria |
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Definition
Sx: tonsil infx with bluish white membrane on tonsils
Cause: exotoxin inactivates eEF-2 |
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Term
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Definition
| Structural analogue of aminoacyl-tRNAtyr, which leads to chain termination during translation; broad spectrum abx |
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Definition
| Structural analogue of UDP-GlcNAc which blocks formation of GlcNAcPP with dolicol; mainly used for research |
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Definition
| Genetic dz's where lysosomal enzymes are absent from the lysosome. Instead, lyposomal enzymes in blood and urine. Mis-targeting due to absence of mannose-6-phosphate tag, not defect in the genes coding for enzymes. Lysosomal storage dz, due to garbage accumulating in the lysosomes. |
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