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| 8976256876 | histone: charge | + from lysine arginine | 0 | |
| 8976256877 | C -> U | deamination | 1 | |
| 8976256878 | orotic acidurea: inheritance, gene, labs, Tx | AR UMP synthase increased orotic acid normal ammonia megaloblastic anemia - not responsive to B12 B9 uridine | 2 | |
| 8976256879 | Purine salvage: diseases | Lesch-Nyahan XR HGPRT Gout MR Aggressive self mutilation allopurinol SCID - Adenosine deaminase deficiency infections diarrhea failure to thrive no thymic shadow |  | 3 |
| 8976256880 | Rate limiter for: purine, pyrimidine, sources of nitrogen/carbon | PRPP aminotransferase glycine, THF, CO2 - Carbon glutamine, aspartate - Nitrogen CPS 2 aspartate, CO2 - carbon glutamine - nitrogen | 4 | |
| 8976256881 | DNA Replication: prokaryotes | Helicase - unwind DNA Topoisomerase - relieve supercoils Primase - RNA primer DNA Polymerase 1 - replace RNA primer with DNA DNA Polymerase 3 - leading, lagging DNA ligase - link okazaki fragments |  | 5 |
| 8976256882 | DNA Replication: eukaryotes | DNA Poly gamma - mitochondrial DNA DNA poly delta - leading strand DNA Poly beta - repair DNA Poly alpha - make primer, build okazaki of lagging strand DNA polymerase 3 - leading, lagging |  | 6 |
| 8976256883 | Types of DNA repair: process, Dx | Mismatch - wrong base HNPCC Nucleotide excision - pyrimidine dimer, bulk damage endonucleases -> DNA polymerase -> DNA ligase Xeroderma pigmentosum bloom syndrome - no helicase Base excision repair - single nucleotide damage glycosolases(remove base) -> endonucleases(remove sugar) -> DNA polymerase -> DNA ligase Non-homologous end joining - broken ataxia-telangiectasia BRCA |  | 7 |
| 8976256884 | RNA: creator, type, location | RNA Poly 1 - rRNA - nucleolus RNA Poly 2 - mRNA - nucleoplasm (alpha amanatin) RNA Poly 3 - tRNA - nucleoplasm hnRNA - remove introns (splicasome), 5' cap, poly A | 8 | |
| 8976256885 | Termination of transcription: prokaryote | Rho factor - energy to knock off hairpin - CG bonds tightly and pulls off uracil rich portion |  | 9 |
| 8976256886 | lac operon: CAP, lac repressor | CAP - present when no glucose Repressor (on operon) - present when no lactose | 10 | |
| 8976256887 | tRNA: enzyme + location | aminoacyl tRNA synthetase - binds CCA(3')-AA | 11 | |
| 8976256888 | rRNA | initiation factor (IF) - 30S/40S bind (P site) tRNA-Met and use ATP to bind 50S/60S aminoglycosides - prevent 30S binding to 50S tetracyclines - prevent tRNA to A site Elongation factor (EF) - tRNA bind to A site peptidyltransferase - chloramphenicol translocation inhibited for clidamycin, macrolides, lincomycin, linezolid EF-2 in eukaryotes EF-G in prokaryotes release factor (RF) - UGA UAA UAG - use energy | 12 | |
| 8976256889 | AD diseases: | ADPKD Achondroplasia FAP Familial hypercholesterolemia OWR hereditary spherocytosis huntington marfan MEN NF1/2 Tuberous Sclerosis VHL | 13 | |
| 8976256890 | AR diseases: | albinism ARPKD cystic fibrosis glycogen storage diseases hemochromatosis mucopolysaccharidoses PKU sickle cell disease sphingolipidoses thalassemia | 14 | |
| 8976256891 | XR diseases: | ocular albinism fabry wisckott-aldrich G6PD hunter bruton hemephilia AB lesch-nyhan duchenne |  | 15 |
| 8976256892 | pleiotropy: | single gene with multiple effects | 16 | |
| 8976256893 | locus heterogeneity: | different mutations cause similar phenotype | 17 | |
| 8976256894 | Prader-Willi Angelman | paternal deleted 15 maternal inactivated obesity, MR, hypogonadotrophic hypogonadism, osteoporosis limit food, GH if short ---------------- maternal deleted paternal inactivated seizures, ataxia, laughter | 18 | |
| 8976256895 | Tumors to brain: | Lung Breast Skin Kidney GI "lots of bad stuff kills glia" | 19 | |
| 8976256896 | Blots: | southern - DNA (DNA probe) northern - RNA (DNA probe) western - protein (Ab probe) southwestern - DNA binding protein (oligonucleotide probe) ELISA - known Ab to identify antigen (direct) known antigen to identify Ab (indirect) - HIV to check for Ab FISH - DNA/RNA probe to look for gene | 20 | |
| 8976256897 | glucokinase/hexokinase | glucokinase - high Km Vmax (liver beta cells) - induced by insulin hexokinase - low Km Vmax | 21 | |
| 8976256898 | pyruvate kinase deficiency | AR nomocytic hemolytic anemia | 22 | |
| 8976256899 | glycolysis: enzymes gluconeogenesis: enzymes | glucokinase/hexokinase PFK1 - (F6P - PFK2 -> F26BP) pyruvate kinase pyruvate carboxylase (biotin B7) PEP carboxykinase F16Pase G6Pase |  | 23 |
| 8976256900 | Glycogenesis | glycogen synthase |  | 24 |
| 8976256901 | Glycogenolysis: | McArdle - glycogen phosphorylase rhabdomyolysis - renal failure muscle cramping VonGierke - G6Pase liver, enterocytes, kidney hypoglycemia - hepatosplenomegaly feed frequently - cornstarch at night Cori - alpha 1,6 glucosidase mild hypoglycemia Pompe - alpha 1,4 glucosidase in lysosome infant - cardiomegaly - HF adult - diaphram weakness |  | 25 |
| 8976256902 | pyruvate: fates | oxaloacetate - pyruvate carboxylase acetyl-CoA - pyruvate dehydrogenase lactate alanine |  | 26 |
| 8976256903 | pyruvate dehydrogenase deficiency | XR or (garlic breath) arsenic -| lipoic acid or B1235 deficiency tx: diet high in ketones and fat | 27 | |
| 8976256904 | TCA cycle: | pyruvate dehydrogenase isocitrate dehydrogenase alpha - ketoglutarate dehydrogenase succinate->fumarate = FADH2 (complex 2/succinate dehydrogenase) |  | 28 |
| 8976256905 | Electron transport chain: complex inhibitors, uncoupling agents | 1(NADH dehydrogenase) - MPP, rotenone (fish poison) 4 (cytochrome c) - CN sodium azide CO H2S thermogenin asprin 2,4-DNP | 29 | |
| 8976256906 | Alanine cycle | alanine + glutamine are nitrogen carriers alpha-ketoglutarate (+amino) -> glutamate (+NH3) -> glutamine ALT + B6 alanine (+ alpha-ketoglutarate) -> pyruvate (+glutamate) AST glutamate (+oxaloacetate) -> alpha-ketoglutarate (+aspartate) |  | 30 |
| 8976256907 | HMP shunt | G6p -G6PD-> R6P + NADPH -> PRPP | 31 | |
| 8976256908 | Oxidative burst: | NADPH oxidase - CGD catalase + organism superoxide dismutase myeloperoxidase |  | 32 |
| 8976256909 | antioxidation: pathway, insults | glutathione peroxidase antimalarial nitrofurantoin dapsone sulfonamides isoniazid naphthalene fava beans ibuprofen asprin |  | 33 |
| 8976256910 | Fructose: diseases | Essential fructosuria - fructokinase Don't make F1P so hexokinase makes F6P which gets extreted in urine Fructose intolerance - aldolase B build up F1P - hypoglycemia after fruit, sucrose |  | 34 |
| 8976256911 | Galactose: disease | Galactokinase deficiency increased galactitol infantile cataracts Classic glactasemia - Gal-1-P uridyltransferase hepatomegaly, MR, FtT, cataracts no galactose, lactose |  | 35 |
| 8976256912 | Starvation | gluconeogenesis - 5-18 hours glucose, FA, ketones - 2 day glucose (RBC), FA (muscle), ketones (brain) - 5 days | 36 | |
| 8976256913 | Ketogenesis | FA -> Acetoacetate -> B hydroxybuterate (urine) acetoacetate -> acetone (fruity as in DKA) HMG-CoA Synthase | 37 | |
| 8976256914 | Ethanol metabolism | pyruvate -> lactate + NAD oxaloacetate -> malate + NAD liver can't perform gluconeogenesis |  | 38 |
| 8976256915 | Kwashiorkor: | kwashiorkor protein malnutrition no ApoB100 so fatty liver Fatty Liver Anemia Malnutrition Edema Marasmus total energy malnutrition | 39 | |
| 8976256916 | Refeeding syndrome | decreased Mg, Phosphate, K depletion of ATP as cells trap things inside | 40 | |
| 8976256917 | LDL, HDL, Chylomicrons, VLDL, IDL: purpose | LDL - cholesterol to tissue hepatic TG lipase (HTGL) - liver takes FF (IDL->LDL) can be oxidized to athroma clatherin endocytosis to cell (LDLr-ApoB100) HDL - cholesterol to liver Lecithin-cholesterol acyltransferase (LCAT) - takes cholesterol from cell cholesterol ester transfer protein (CETP) - give cholesterol to LDL, VLDL Scavenger receptor B1 - liver takes cholesterol Chylomicrons - TG transport ApoB48 - thoracic duct lipoprotein receptor protein (LRP) - absorbed in liver VLDL - TG to tissue ApoB100 - leave liver IDL - byproduct of VLDL cholesterol/TG to liver Lipoprotein lipase (LPL) - cells take FA |  | 41 |
| 8976256918 | Apolipoproteins: list, function | ApoB48 - chylomicron ApoB100 - VLDL IDL LDL to leave liver ApoE - extra remnant uptake ApoA1 - on HDL to activate LCAT ApoC2 - cofactor for LPL | 42 | |
| 8976256919 | Lipid diseases | A beta lipoproteinemia AR decreased ApoB48 ApoB100 decreased chylomicrons, VLDL steatorrhea, ADEK (night blindness), swollen enterocytes, acanthocytosis Tx: vitamin E type 1 hyperchylomicronemia AR decreased LPL OR ApoC2 pancreatitis from TG Xanthomas, hepatosplenomegaly NO risk of heart attacks! type 2a hypercholesterolemia AD decreased LDLr xanthomas atherosclerosis - MI! type 4 hypertriglyceridemia AD increased VLDL pancreatitis | 43 | |
| 8976256920 | Cholesterol synthesis | use Acetyl-CoA with HMG-CoA reductase | 44 | |
| 8976256921 | Fatty Acid Metabolism | generation in cytosol Acetyl-CoA -Acetyl-CoA carboxylase-> FA breakdown in mitochondria FA -carnitine acyltransferase/carnitine palmitoyl transferase-1-> if deficient than can't get FA to mitochondria | 45 | |
| 8976256922 | Essential Amino acids, Basic AA, Acidic AA | Phenylalanine Valine Threonine Tryptophan Isoleucine Methionine Histidine Leucine Lysine lysine arginine histidine aspartate glutamate | 46 | |
| 8976256923 | Derivatives of AA | Phenylalanine tyrosine dopa ----- melanin dopamine ----- HVA NE ----- VMA EPI ----- metanephrine ----- VMA arginine -> creatine, urea, NO |  | 47 |
| 8976256924 | synthesized with: B6 | Tryptophan -*-> niacin, serotonin->melatonin Histidine -*-> histamine Glycine -*-> porphyrin -> heme glutamate -*-> GABA, glutathione |  | 48 |
| 8976256925 | Urea cycle | CPS1 Ornithine transcarbamylase increased orotic acid increased ammonia -> decreased BUN present like hepatic encephalopathy Tx: low protein diet |  | 49 |
| 8976256926 | Phenylketonuria: enzyme, Sx, | phenylalanine hydroxylase, BH4 tyrosine becomes essential MR, seizures, fare skin, eczema, musty body odor Toxic to fetus |  | 50 |
| 8976256927 | Alkaptonuria | tyrosine -> homogentisic acid -homogentisic acid oxidase-> fumarate black joints, urine arthritis |  | 51 |
| 8976256928 | Albinism | tyrosinase melanocytes - neural crest melanoma - thymine dimers |  | 52 |
| 8976256929 | Homocystinuria | cystathionine synthase B6 homocysteine methyltransferase B12 MR, tall, osteoporosis, downward subluxation Tx: B6 B12 cysteine |  | 53 |
| 8976256930 | S-adenosyl-methionine (SAM) | NE -> EPI ATP + methionine B12, folate needed to regenerate methionine |  | 54 |
| 8976256931 | Cystinuria | defect in renal AA transporter Cysteine Ornithine Lysine Arginine Tx: acetazolamine to Alk urine to protect from cysteine kidney stones | 55 | |
| 8976256932 | MSUD | branched chain alpha-ketoacid dehydrogenase complex isoleucine leucine valine MR | 56 | |
| 8976256933 | Hartnup | AR neutral AA transporter in Renal/intestine no tryptophan transport -> niacin deficiency | 57 | |
| 8976256934 | Iron poisoning: location, Sx | stored in liver, spleen, bone marrow GI bleeding - abdominal pain - free radical damage Met Acidosis | 58 | |
| 8976256935 | Zinc | zinc fingers - healing state suppliment carbonic anhydrase lactate dehydrogenase deficiency: impaired night vision | 59 | |
| 8976256936 | Lead poisoning | decreased IQ wrist/foot drop lead lines - bones, gums Anemia - basophilic stippling, ringed sideroblasts succimer EDTA dimercaprol - child |  | 60 |
| 8976256937 | Mercury poisoning | kidney and brain! peeling of fingertips - acrodynia abdominal pain big fish consumption | 61 | |
| 8976256938 | Vitamin A | retinol retinal beta- carotene - orange retinoic acid tretinoin, isotretinoin - acne, teratogenic measles, AML M3 too little: night blindness, corneal ulcerations too much: increased ICP, joint pain, alopecia, polar bear | 62 | |
| 8976256939 | Vitamin D | cholecalciferol converted to 25 OH in liver by 25-hydroxylase Ca needed in infants exclusively breast fed (+K) sarcoidosis - macrophages express too 1-alpha hydroxylase activity |  | 63 |
| 8976256940 | Vitamin E | alpha tocopherol antioxidant - protect RBC from free radical too little: hemolytic anemia, ataxia, peripheral neuropathy | 64 | |
| 8976256941 | Vitamin K | synthesized by gut bacteria - infants at risk of deficiency so suppliment with injection (+D) 2 7 9 10 deficiency causes: phenytoin, antibiotics, warfarin | 65 | |
| 8976256942 | Vitamin C | ascorbic acid hydroxylation of proline, lysine in collagen dopamine -> NE antioxidant helps absorb iron so take iron with OJ | 66 | |
| 8976256943 | Eosinophilia: DDx | Drugs Neoplasm Atopic Addison's AIN Collagen vascular diseases Parasites | 67 | |
| 8976256944 | B1 | thiamin pyruvate dehydrogenase alpha-ketoglutarate dehydrogenase HMP shunt too little: alcoholism damage mammillary bodies wernicke - acute, encephalopathy, ataxia korsakoff - chronic, memory loss, confabulation, apathy dry beriberi - wrist/foot drop wet beriberi - VD, cardiomegaly give glucose with thiamine | 68 | |
| 8976256945 | B2 | riboflavin FAD - dehydrogenase angular cheilosis | 69 | |
| 8976256946 | B3 | niacin NAD from tryptophan hartnup disease pellagra - dermatitis, diarrhea, dementia Isoniazid increase HDL, decrease LDL - take asprin for flushing | 70 | |
| 8976256947 | B5 | pantothenate dermatitis adrenal insufficiency | 71 | |
| 8976256948 | B6 | pyridoxine heme niacin histamine GABA dopamine NE EPI angular cheilosis convulsions - GABA peripheral neuropathy isoniazid | 72 | |
| 8976256949 | B7 | biotin carboxylation to add CO2 avidin in egg whites prevent absorption of biotin | 73 | |
| 8976256950 | B9 | folate DNA repair and synthesis megaloblastic anemia - hypersegmented neutrophils |  | 74 |
| 8976256951 | B12 | cobalamin homocysteine MT to make THF, methionine megaloblastic anemia + hypersegmented neutrophils increased MMA - myelin, homocysteine neurological - ataxia vegans can be deficient IF from parietal, absorbed in terminal ilium pernicious anemia, gastric bypass, crohn's Schilling test - radiolabeled B12 and see how much shows up in urine | 75 | |
| 8976256952 | Nuclear localization signal | lysine arginine proline | 76 | |
| 8976256953 | Cell phases | G0 - no divide G1 - ---(cyclin D->CDK4 -> phos- Rb releasing E2F -> cyclin E+CDK2) Rb, p53 S - DNA G2 - cyclin A - CDK2 - prophase cyclin B - CDK1 - breakdown nuclear envelope M - |  | 77 |
| 8976256954 | Cell regions | RER (nissl in dendrites) - exported proteins free ribosomes - cytosolic proteins smooth ER - steroid, detox trafficking proteins - coat protein 2 (ER -> cis-golgi) coat protein 1 (golgi -> ER) clatherin - trans-golgi to lysosomes Golgi - transport, modify protein mannose 6 phosphate - lysosome tag Chaperones - folding peroxisome - B oxydation of VLC-FA plasmalogens - myelin oxidase, catalase sarcoplasmic reticulum - store Ca | 78 | |
| 8976256955 | I cell disease | no mannose 6 phosphate tagged proteins get trafficked out of cell instead of to the lysosome corneal clouding, MR, dead by 8 | 79 | |
| 8976256956 | homeobox (HOX) genes | make sure skeleton arranged properly altered by vitamin A | 80 | |
| 8976256957 | homeobox (HOX) genes make sure skeleton arranged properly altered by vitamin A SHH - holoprosencephaly FGF - mutation-short limbs | 81 | ||
| 8976256958 | Cytoskeleton | microfilaments - actin, cell motility intermediate filaments - -vimentin -connective tissue, sarcoma -desmin - muscle, myosarcoma -cytokeratin - epithelial cells -GFAP - astrocytes, glioblastoma -peripherin - neurons neurofilaments - axons, neuroblastoma nuclear lamins - nuclear envelope ----progeria - rapid aging myosin microtubules - flagella kinesin - anterograde dynein - retrograde gap junctions - coordinated movement -vincristine -vinblastine -paclitaxel -griseofulvin -colchicine | 82 | |
| 8976256959 | kartagener syndrome | infertility bronchiectasis sinus inversus | 83 | |
| 8976256960 | clatherin | adaptin bind something the cells wants clathrin bind adaptin dynamin helps vesicles pinch off mutant LDL receptor can't interact with clathrin! |  | 84 |
| 8976256961 | arachidonic acid | leukotrienes endoperoxides -PGI2 (prostacyclin) VD no platelet aggre -prostaglandin - VD, increase uterine tone, gastric mucus -TXA - VC platelet aggre |  | 85 |
| 8976256962 | Apoptosis |  | 86 | |
| 8976256963 | Necrosis | coagulative necrosis - low oxygen liquefactive - brain, pleural effusions caseous - TB Fatty - pancreas fibrinoid - immune vascular damage gangrenous - bacterial | 87 | |
| 8976256964 | Neural Crest structures in: Ear Eye adrenal mouth heart digestive thyroid skin | ear- middle ear bone eye - anterior structures adrenal - chromaffin mouth - odontoblasts heart - AP septum digestive - enteric NS thyroid - parafollicular C cells skin - melanocytes | 88 | |
| 8976256965 | Inflammation | IL1 IL6 TNF-alpha VD - histamine serotonin bradykinin fibrosis - collagen (Vit C) - remodeled with metalloproteinase (zinc) | 89 |
