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68 Cards in this Set
- Front
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Fat Soluble Vitamins
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Vit A = vision
Vit D = Bone calc, Ca2+ homeostasis Vit E = Antioxidant Vit K = Clotting factor |
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Water Soluble Vitamins
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B1 (thiamine: Tpp)
B2 (riboflavine: FAD, FMN) B3 (niacin: NAD+) B5 (pantothenic acid:CoA) B6 (pyridoxine: PLP) B12 (cobalamin) C (ascorbic acid) Biotin Folate |
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Vit A (retinol)
*Found in liver and leafy veggies |
Function: Antioxidant; constituent of visual pigments (retinal); essential for normal diff of epithelial cells into specialized tissue (pancreatic cells, mucus-secreting)
Deficiency: Night blindness, dry skin Excess: Arthralgias, fatigue, headache, skin change, sore throat alopecia. TERATOGENIC (cleft palate, cardiac)--> preggers test done before isotretinoin prescribed for severe acne |
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Vit B1 (thiamine)
*Seen in malnutrition and alcoholism |
Fnxn: In thiamine pyrophosphate (TPP), cofactor for several enzymes:
(1) pyruvate dehydrogenase (glycolysis) (2) alpha-ketoglutarate dehydrog (TCA cycle) (3) Transketolase (HMP shunt) (4) Branched-chain AA dehydro Deficiency: impaired glucose breakdown --> ATP depletion; highly aerobic tissues affected 1st. WERNICKE-KORSAKOFF SYN and BERIBERI (dry: polyneuritis, sym muscle wasting, wet: cardiac failure, edema) |
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Vit B2 (riboflavin)
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Function: Cofactor in oxidation/reduction (eg FADH2)
Deficiency: **Cheilosis (inflamm of lips, scaling, fissures at mouth corners) **Corneal vascularization |
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Vit B3 (niacin)
**Synthesis requires Vit B6 |
Fnxn: Constituent of NAD+, NADP+ (used in redox, B3 = 3 ATP); derived from tryptophan.
Deficiency: Glossitis. Severe deficiency leads to PELLAGRA, which can be caused by HARTNUP DZ (decreased tryptophan asbsorp), malignant carcinoid syndrome (increas. tryptophan metabolism), and INH (decreased vit B6) Pellagra: 3D's = diarrhea, dermatitis, dementia. excess untx'd corn in diet --> pellagra (vit b3 in corn not absorable, unless tx'd) Excess: Facial flushing (from pharm doses for tx of hyperlipidemia) |
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Vit B5 (pantothenate)
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Function:
Essential component of CoA (a cofactor for acyl transfers) and fatty acid synthase Deficiency: dermatitis, enteritis, alopecia, adrenal insufficiency Pantothen-A is in Co-A |
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Vit B6 (pyridoxine)
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Fnxn:
(1) converted to pyridoxal phosphate, cofactor used in transamination (eg ALT and AST) (2) decarboxylation rxns (3) glycogen phosphorylase (4) cystathionine synthesis (5) heme synthesis (6) required to synth NIACIN (vit B3) from tryptophan Deficiency: convulsions, hyperirritability, peripheral neuropathy (deficiency inducible by INH and OCP, sideroblastic anemia |
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Vit B12 (cobalamin)
**Found in animal products. **Synthesized only by microorganisms **Very large reserve pool stored in liver |
Fnxn: Cofactor for homocysteine methyltransferase (transfers CH3 groups as methylcobalamin) & methylmalonyl-CoA mutase
Deficiency: macrocytic, megaloblastic anemia, hypersegmented PMNs, neurologic sxs (paresthesias, subacute combined degeneration) due to ABNORMAL MYELIN Prolonged deficiency --> irreversible nervous system damage *Deficiency usually due to malabsorption (sprue, enteritis, Diphyll), lack of intrinsic factor (pernicious anemia, gastric bypass surgery) or absence of terminal ileum (Crohns dz) *Use of Schilling test to detect etiology of deficiency |
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Folic Acid
**Most common vitamin deficiency in USA **Deficiency seen in pregnancy (take supp to avoid neural tube defect) & alcoholism |
Fnxn: Converted to tetrahydrofolate (THF), a coenzyme for 1-carbon transfer/methylation rxns
Impt for synthesis of nitrogenous bases in DNA and RNA. Deficiency: macrocytic, megaloblstic anemia; NO neurologic sxs (unlike B12) Deficiency can be caused by several drugs (phenytoin, sulfanomides, MTX) *Folate from FoLiage *Small reserve pool in liver |
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S-Adenosyl-methionine
*Required for the conversion of NE --> epinephrine |
ATP + methionine --> SAM
SAM transfers methyl units (SAM is the methyl donor man) Regeneration of methionine (and SAM) is dependent on Vit B12 & folate |
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Biotin (B7)
"AVID in egg whites" |
Fnxn:
Cofactor for carboxylation enzymes (which add 1-carbon group): (1) pyruvate carboxylase: Pyruvate (3C) --> oxaloacetate (4C) (2) acetyl-CoA carboxylaseL Acetyl-CoA (3C) --> malonyl-CoA (4C) (3) Propionyl-CoA carboxylase: Propionyl-CoA (3C) --> methylmalonyl-CoA (4C) Deficiency: relatively rare. Dermatitis, alopecia, enteritis. Caused by antibiotic use or excessive ingestion of raw eggs. |
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Vit C (ascorbic acid)
**Found in fruits/veggies **British sailors carried limes to prevent scurvy |
Fnxn: ANTIOXIDANT
(1) Facilitates iron absorption by keeping iron in Fe2+ reduced state (more absorbable) (2) Necessary for hydroxylation of proline & lysine in collagen synthesis (3) necessary for dopamine beta-hydroxylase, which converts dopamine --> NE Deficiency: SCURVY=swollen gums, bruising, anemia, poor wound healing |
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Vit D
**drinking milk (fortified w/vitD) is good for the bones **Calcitrol is active form |
D2= ergocalciferol -- ingested from plants, used as pharmacologic agent
D3=cholecalciferol --consumed in milk, formed in sun-exposed skin 25-OH D3 = storage form 1, 25-(OH)2D3 (calcitrol) = ACTIVE Fnxn: INCREASE intestinal absorption of Ca2+ and phosphate, INCREASE bon resorption Deficiency: RICKETS in children (bending bones), OSTEOMALACIA in adults, hypocalcemic tetany Excess: Hypercalcemia, hypercalciuria, loss of appetite, stupor. Seen in sarcoidosis (INCR activation of vit D by epithelioid macrophages) |
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Vit E
**E is for erythrocyte! |
Fnxn: Antioxidant (protects erythrocytes and membranes from free-radical damage)
Deficiency: INCR fragility of erythrocytes (hemolytic anemia), muscle weakness, neurodysfnxn |
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Vit K
**K for Koagulation *Synthesized by intestinal flora |
Fnxn: Catalyzes GAMMA-carboxylation of glutamic acid residues on various proteins concerned with blood clotting.
- necessary for synthesis of clotting factors 2, 7, 9, 10, and protein C and S **Warfarin = Vit K antagonist Deficiency: Neonatal hemorrhage w/INCR PT and aPTT, but normal bleeding time (neonates have sterile intestines and unable to synth vit K) Def can also occur after prolonged use of broad-spectrum antibiotics *neonates given vit K injection at birth to prevent hemorrhage |
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Zinc
**deficiency may predispose to alcoholic cirrhosis |
Fnxn: Essential for the activity of 100+ enzymes. Impt in formation of zinc fingers (transcription factor motif).
Deficiency: Delayed wound healin, hypogonadism, DECRS adult hair (axillary, facial, pubic), dysgeusia (distortion of taste), anosmia (inability to perceive odors). |
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Drugs that act on MICROTUBULES
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1) Mebendazole/thiabendazole (antihelminthic)
2) Griseofulvin (antifungal) 3) Vincristine/vinblastine (anti-cancer) 4) Paclitaxel (anti-breast cancer) 5) Colchicin (anti-gout) |
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Immunohistochemical Stains:
1) Connective Tissue 2) Muscle 3) Epithelial Cells 4) Neuroglia 5) Neurons |
1) Vimentin
2) Desmin 3) Cytokeratin 4) GFAP 5) Neurofilaments |
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Cardiac glycosides
Digoxin and Digitoxin |
Uses: Atrial fib, atrial flutter, sometimes CHF
How works: Directly inhibit Na+/K+ ATPase, which leads to INDIRECT inhibition of Na+/Ca2+ exchange. INCR [Ca2+]i --> INCR cardiac contractility |
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Collagen
Be (So Totally) Cool, Read Books. |
**Most abundant protein in human body.
**Organizes and strengthens extracellular matrix 4 types Collagen: Type 1: Bones, Skin, Tendons Type 2: Cartilage Type 3: Reticulin Type 4: Basement membrane |
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Collagen Type I
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90% of collagen types:
1) BONE 2) Skin 3) tedon 4) dentin 5) fascia 6) cornea 7) late wound repair |
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Collagen Type II
"carTWOlage" |
1) Cartilage (including hyaline)
2) Vitreous body 3) Nucleus pulposus |
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Collagen Type III
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RETICULIN
1) skin 2) blood vessels 3) uterus 4) fetal tissue 5) granulation tissue |
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Collagen Type IV
Type IV: under the FLOOR |
Basement membrane or basal lamina
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Blotting Procedures
1) Southern blot 2) Northern blot 3) Western blot |
SNoW = DRoP
Southern = DNA Northern = RNA Western = protein Southern = DNA electro w radioactive DNA probe Northern = RNA electro w radioactive DNA probe Western = Protein w antibody probe |
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ELISA
(Enzyme-linked immunosorbent assay |
Rapid immunologic technique testing for ANTIGEN-ANTIBODY reactivity
* Test antigen = see if immune system recognizes it * Test antibody = see if antigen recognizes it |
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Fluorescence in situ hybridization (FISH)
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Fluorescent DNA or RNA probe binds to specific gene site of interest
USE: Specific localization of genes and direct visualization of anomalies (microdeletions) at molecular level Fluorescence = gene is present No Fluorescence = gene has been deleted |
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Cloning
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Production of recombinant DNA molecule that is self-perpetuating
1) DNA fragment inserted into bacterial plasmid containing antibiotic resistance genes 2) Restriction enzymes cleave DNA at 4-to- 6-pb sequences, allowing insertion of fragment into plasmid 3) Tissue mRNA isolated and exposed to reverse transcriptase, forming cDNA library (lacks intron) |
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Sanger DNA sequencing
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Dideoxynucleotides halt DNA polymerization at each base, generating sequence of various lengths that encompass entire original sequence.
Terminated fragments electrophoresed and original sequence deduced |
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Karyotyping
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Metaphase chromosomes stained, ordered, numbered according to morphology, size, arm-length ratio and banding pattern.
Tissues used: blood, bone marrow, amniotic fluid, placental tissue Used to dx chromosomal imbalance |
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Model systems
Knock out = remove gene Knock in = insert gene |
Transgenic strategies in mice:
1) Constitutive: RANDOM insertion of gene into mouse genome 2) Conditional: TARGETED insertion/deletion of gene thru homologous recomb w/mouse gene RNAi--dsRNA synthesized that is complementary to mRNA sequence of interest. When transfected into human cells, dsRNA separates/promotes degradation of target mRNA, knocking down gene expression |
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Hardy-Wineberg Population Genetics
1) no mutation at locus 2) no selection for any genotypes at locus 3) completely random mating 4) no migration |
Disease prevalence
p^2 + 2pq + q^2 = 1 Allele prevalence p+q= 1 Heterozygote prevalence: 2pq Prevalence of X-linked recessive dz in males = q, in females = q^2 |
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Imprinting
ex. Prader-Willi - deletion of normally active Paternal allele AngelMan's - deletion of normally active Maternal allele |
At a single locus, only 1allele is active, the other is inactive (imprinted/inactivated by methylation).
Deletion of active allele --> disease Difference in phenotype depends on whether mutation is of maternal or paternal origin. |
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Kinase
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Uses ATP to add HIGH-ENERGY phosphate group onto substrate
(ex phosphofructokinase) |
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Phosphorylase
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Adds INORGANIC phosphate onto substrate without using ATP
(ex glycogen phosphorylase) |
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Phosphatase
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REMOVES phosphate group from substrate
(eg fructose-1,6-biphosphatase) |
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Dehydrogenase
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OXIDIZES substrate
(eg pyruvate dehydrogenase) |
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Carboxylase
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ADDS 1 carbon with the help of biotin
(eg pyruvate carboxylase) |
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Metabolism sites in Mitochondria
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1) Fatty acid oxidation (beta-oxidation)
2) acetyl-CoA production 3) TCA cycle 4) oxidative phosphorylation |
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Metabolism sites in Cytoplasm
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1) Fatty acid synthesis
2) Glycolysis 3) HMP shunt 4) protein synthesis (RER) 5) Steroid synthesis (SER) |
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Metabolism sites in cytoplasm & mitochondria
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1) Heme synthesis
2) Urea cycle 3) Gluconeogenesis |
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Rate determining enzyme of metabolic process:
Glycolysis |
phosphofructokinase-1 (PFK-1)
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Rate determining enzyme of metabolic process:
Gluconeogenesis |
Fructose-1,6-bisphosphatase
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Rate determining enzyme of metabolic process:
TCA cycle |
Isocitrate dehydrogenase (oxidizes substrate)
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Rate determining enzyme of metabolic process:
Glycogen synthesis |
Glycogen synthase
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Rate determining enzyme of metabolic process:
Glycogenolysis |
Glycogen phosphorylase
(adds inorganic phosphate w/o ATP) |
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Rate determining enzyme of metabolic process:
HMP shunt |
glucose-6-phosphate dehydrogenase (G6PD)
(oxidizes substrate) |
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Rate determining enzyme of metabolic process:
De novo pyrimidine synthesis |
Carbomyl phosphate synthetase II
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Rate determining enzyme of metabolic process:
De novo purine synthesis |
Glutamine-PRPP amidotransferase
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Rate determining enzyme of metabolic process:
Urea cycle |
Carbamoyl phosphate synthetase I
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Rate determining enzyme of metabolic process:
Fatty acid synthesis |
actetyl-CoA carboxylase (ACC)
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Rate determining enzyme of metabolic process:
Fatty acid oxidation |
Carnitine acyltransferase I
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Rate determining enzyme of metabolic process:
Ketogenesis |
HMG-CoA synthase
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Rate determining enzyme of metabolic process:
Cholesterol synthesis |
HMG-CoA reductase
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Signaling pathways of endocrine hormones
cAMP |
"FLAT CHAMP"
FSH LH ACTH TSH CRH hCG ADH (V2 receptor) MSH PTH Calcitonin Glucagon |
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Signaling pathways of endocrine hormones
cGMP |
ANP
NO (EDRF) think vasodilators |
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Signaling pathways of endocrine hormones
IP3 |
"GGOAT"
GRH GnRH Oxytocin ADH (V1 receptor) TRH |
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Signaling pathways of endocrine hormones
steroid receptor |
Glucocorticoid
Estrogen Progesterone Testosterone Aldosterone Vit D T3/T4 |
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Signaling pathways of endocrine hormones
Tyrosine Kinase |
F-PPIIG
FGF PDGF Prolactin Insulin IGF-1 GH |
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Signaling pathways of endocrine hormones
cAMP |
"FLAT CHAMP"
FSH LH ACTH TSH CRH hCG ADH (V2 receptor) MSH PTH Calcitonin Glucagon |
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Signaling pathways of endocrine hormones
cGMP |
ANP
NO (EDRF) think vasodilators |
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Signaling pathways of endocrine hormones
IP3 |
"GGOAT"
GRH GnRH Oxytocin ADH (V1 receptor) TRH |
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Signaling pathways of endocrine hormones
steroid receptor |
Glucocorticoid
Estrogen Progesterone Testosterone Aldosterone Vit D T3/T4 |
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Signaling pathways of endocrine hormones
Tyrosine Kinase |
F-PPIIG
FGF PDGF Prolactin Insulin IGF-1 GH |
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Essential Amino Acids
(need to be supplied by diet) The Ten Acid Pornstars Liked Very Hot Ladies In Mini-skirts |
Glucogenic: Met, Val, Arg, His
Ketogenic: Leu, Lycine Both: Ile, Phe, Thr, Trp |
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Acidic Amino Acids
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Asp and Glu
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Basic Amino Acids
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Arg, Lys, and His
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