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118 Cards in this Set
- Front
- Back
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Amino acids necessary for purine syn…
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Gly, aspartate, glutamine
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Uracil and cytosine differ by…
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Cyt becomes deaminated to become uracil
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MOA of adensosine deaminase activity…
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Cannot take A inosine, which is converted to hypoxanthine and then IMP. Excess ATP and dATP imbalances nucleotide pool and inhbits ribonucleotide reductase which inhibits DNA syn. Decr lymphocyte count
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DNA repair damaged in xeroderma pigmentosum and how does ths repair work…
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Nucleotide excision repair. Endonucleases release damaged bases and DNA poly fill in gap, ligase seal
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Start codon in prokaryotes codes for…
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Formy-methionine
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What binds to promoter sequence…
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RNA poly and other factors
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In prokaryotes, what makes rRNA… tRNA.. mRNA…
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Prokaryotes only have one type of RNA poly that makes all of them
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AA’s that only have one codon…
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Met and Trp
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Role of eIFs in protein syn… when do they leave…
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Help assemble 40s ribosomal subunit w/ initiator tRNA and are released when mRNA and ribsome assemble together
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A site of ribosome… P site…
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A site for incoming aminoacyl-tRNA and receives the transferred peptide bond. P site is where tRNA + peptide complex is
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Stabile cells are defined as… examples…
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Enter G1 from G0 when stimulated. Ex: lymphocytes, hepatocytes, fibroblasts
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Synthesize enzymes (ChAT) and NTs in neurons…
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Nissl substance (RER)
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Funxn of free ribosomes…
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Synthesis of cytosolic and organellar proteins
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What increases Lac operon activity and how…
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Incr lactose, by binding to repressor and inactivating it, and decr glc, by not making cAMP to activate repressor.
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Golgi adds O-oligosaccarides to what residues…
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Ser and Thr
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Proteoglycan assembly occurs where… sulfation of sugars in proteoglycans…
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Both occur in golgi apparatus
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Utilize actin and myosin…
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Microvilli, muscle contrxn, cytokinesis (splitting of cytoplasm), adherens junxns (desomosomes)
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Cytokeratin stains for what tissue…
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Epithelial cells
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MOA of ouabain…
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Inhibits binding of K to K site of Na-K atpase
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Type I collagen in …
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Bone, Skin, Tendon, dentin, fascia, cornea, late wound repair
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Type II collagen in…
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Cartilage, vitreous body, nucleus polposus
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Type III collagen in…
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Skin, blood vessels, uterus, fetal tissue, granulation tissue
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Type IV collagen in…
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Basement membrane or basal lamina
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Steps in synthesis of collagen and where do these occur…
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RER: translation of alpha chains (prepro) hydroxylation of pro and lys residues (vit C) glycosylization of pro-alpha chain making procollagen exocytosis of procollagen into extracellular spece. Outside of fibroblast: cleavage of terminal regions making insoluble tropocollagen reinforcement of staggered tropo by lysine-hydroxylysine X-links (lysl oxidase) to make collagen fibrils
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Osteogenesis imperfecta defect in collagen synthesis where…
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Forming of procollagen after glycosylization
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Deficiency in Ehlers-Danlos frequently affects what type of collagen and in what stage affected…
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Type III collagen, due to defective lysyl-hydroxylase or pro-collagen peptidase making collagen more soluble so it doesn’t X-link as well
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Type of osteogenesis imperfecta that is fatal in utero…
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Type II
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Elastin rich in what AAs… what areas of body have lots f it…
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Rich in Pro and Gly, nonglycosylated forms. In lungs, large arteries, elastic ligaments, ligamenta flava
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Scaffolding for tropoelastin (molecules that Xlink to form elastin)…
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Fibrillin
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Enzymes used in recombinant DNA cloning…
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Restriction enzymes to cleave DNA allowng for gene insertion, Reverse Transcriptase to form cDNA from mRNA isolated from plasmid
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RNAi…
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dsRNA that is complementary to mRNA of interest. When inserted into humans, degrades the mRNA of interest knocking down gene expression
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In what step of mitosis are chromosomes when stained in karyotyping…
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Metaphase
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Karyotyping can be done on what tissue…
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Blood, bone, amniotic fluid, placental tissue
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2 hit model applies to tumor suppressor genes or oncogenes…
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Tumor suppressor genes only. Can be heterozygote for oncogene for it to do its damage
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Locus heterogenetity and examples…
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Mutations at different loci produce same phenotype. Eg: Marfans, Homocyteinuria, MEN 2B all give same habitus
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Prevalence of X-linked recessive dx in males… females…
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Males: q Females: q^2
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Assumptions of Hardy-Weinberg…
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No mutation occurring at locus, no selection for any of genotypes at the locus, completely random mating, no migration
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Clue to determining if disease is X-linked dominant…
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All female children of affected father will be affected
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Leber’s hereditary optic neuropathy…
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Degeneration of retinal ganglion cells and axons. Acute loss of central vision. Passed by mitochondrial inheritance
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Inheritance of Hereditary spherocytosis…
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AD
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Inheritance of MEN syndromes…
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AD
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Findings in tuberous sclerosis…
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Facial lesions, hypopigmented spots, cortical and retinal hamartomas, seizures, retard, renal cysts and angiomyolipomas, cardiac rhabdomyomas, ASTROCyTOMAs, Shagreen patch on lumbosacral area
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Inheritance of hemochromatosis…
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AR
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Inheritance of phenylketonuria…
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AR
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Funxn of CFTR channel…
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Secretes Cl in lungs and GI tract but reabsorbs Cl from sweat.
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Infertility of CF due to…
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Bilateral absence of Vas Deferens
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Funxn of dystrophin…
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Anchors actin from muscle fibers to membrane glycoprotein
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How is fragile X gene (FMR1) inactivated…
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Methylation
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Genetic anticipation of trinucleotide repeats due to…
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Germline expansion in females
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Results of quad screen for Down Syn…
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Decr AFP and estriol; Incr hCG and inhibin A
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Dx assoc w/ Robertsonian translocation… With the most common cause, what stage of mitosis or meiosis does it most commonly occur…
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Down, Patau. Down’s usually happens in meiosis one of anaphase (nondisjunxn)
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Chromosomal inversions result in what condition…
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Infertility
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Two types of chromosomal inversion and which one proceeds thru meiosis…
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Pericentic involves centromere so it can proceed thru meiosis. Paracentric does not involve centromere and does not proceed thru meiosis
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22q11 syndromes…
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DiGeorge (thymic, PT, anc cardiac) and velocardiofacial syndrome (palate, facial, cardio)
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Funxn of vit A and excess causes… teratogenic affects…
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Antioxidant, retinal epithelium, differentiation of epithelial cells into specialized tissue (pancreatic cells, mucus-secreting cells). Excess- skin, HA, sore throat, alopecia, teratogen- cleft palate, cardiac defects)
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Enzymes that use B1…
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Pyr dehydrog, alpha-ketoglutarate dehydrogenase, transketolase (HMP shunt), BCAA dehydrogenase
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Deficiency of B2 (riboflavin) causes…
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Cheilosis, corneal vascularization
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Deficiency of niacin can be caused by…
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Hartnup dx (decr Trp), Malignant carcinoid (uses up trp to make Ser), INH (uses B6 which is necessary for trp niacin)
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Funxns of vit B5(pantothenic acid)… deficiency…
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Component of CoA and fatty acid synthase. Deficiency: dermatitis, enteritis, alopecia, adrenal insufficiency
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Original source of B12…
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Microorganisms
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Deficiency of folate caused by…
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Alcoholism, OCPs, pregnancy, phenytoin, sulfonamides, MTX
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Funxns of SAM…
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Met homo, NE Epi, adds 7-methyl cap
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Enzymes that use biotin… causes of deficiency…
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Pyr carboxylase, ACC (makes malonyl CoA), propionyl CoA carboxylase (makes malonyl CoA from odd-chain FA). Deficiency caused by avidin in raw eggs or antibiotic use
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Vit C is antioxidant, Fe absorption helper, hydroxylator and what else…
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Necessary for conversion of DA NE thru DA beta-hydroxylase
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Deficiency of Zn causes…
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Delayed wound healing, hypogonadism, decr adult hair, cannot taste, anosmia (or smell). May predispose to alcoholic cirrhosis
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MOA of fomepizole… interesting fact about the enzyme it inhibits
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Inhibits alcohol dehydrogenase which works by zero-order kinetics
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Incr NADH/NAD ratio from alcohol causes malfunxn in what enzymes and how… result..
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Diversion of pyr lactate and oxaloacetate malate. Thus get fatty acid buildup, lactic acidosis, hypoglycemia
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Why do kwashiorkor kids have fatty liver…
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Not enough protein in diet to make apolipoproteins fat accumulation
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FA syn occurs where in cell…
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Cytoplasm
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Rate-limiting enzyme of TCA cycle…
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Isocitrate dehyrogenase
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Rate-limiting enzyme of de novo pyrimidine synthesis…
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Carbamoyl phosphate syn II
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Rate-limiting enzyme of de novo purine syn…
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Glu-PRPP amidotransferase
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Rate-limiting enzyme of FA oxidation…
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Carnitine acyltransferase I
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Rate-limiting enzyme of ketogenesis…
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HMG CoA synthase
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Where does HMP shunt feed back into glycolysis…
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Fru-6-phosphatase
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Where does Fru feed into glycolysis…
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DHAP and glyceraldehyde glyceraldehyde3Phosphate
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Feedback inhibition and stimulation of hexokinase… glucokinase…
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Hexokinase is not stimulated by insulin but is inhibited by glc-6-P; glucokinase is stimulated by insulin but is NOT inhibited by glc-6-P
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Stimulate PFK… inhibit PFK…
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Stimulate: AMP, F2,6BP. Inhibit: citrate, ATP
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Stimulate Pyr kinase… inhibit PFK…
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Stimulate: F1,6BP. Inhibit: ATP, Alanine
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Fasting state regulation of PFK1 mechanism…
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Incr glucagons incr cAMP incr PKA incr FBPase2, decr PFK2 not as much stimulation of PFK1
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Fed state regulation of PFK1 mechanism…
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Incr insulin decr cAMP levels decr PKA decr FBPase, incr PFK2 incr PFK1 stimulation
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Activate pyruvate dehydrogenase complex…
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Increase in: NAD/NADH ratio, ADP, Ca2+
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Tx of pyruvate dehydrogenase deficiency…
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High intake of ketogenic nutrients such as fats, Lys, Leu
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Anaerobic glycosis is major pathway of ATP prodxn in what tissues..
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RBCs, leukocytes, kidney medulla, lens, testes, cornea
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Where is GTP produced in TCA… where is GTP used in glucose handling…
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Succinyl CoA succinate. GTP used in PEPCK in gluconeogenesis (in cytosol)
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Where is FADH2 produced in TCA…
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Succinate fumarate
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Inhibit ETC causing a decr H+ gradient…
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Rotenone, CN, CO, antimycinA
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Inhibit mitochondrial ATPase causing incr H+ gradient…
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Oligomycin
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Tissues w/ high HMP shunt activity…
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Lactating mammary glands, liver, adrenal cortex, RBCs
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MOA and Symptoms of Fructose intolerance… tx…
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Deficient aldolase B so fru1P builds up and blocks gluconeogenesis and glycogenoslysis. Symptoms: hypoglycemia, jaundice, cirrhosis, vomit. Tx: decr fru and sucrose
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Coenzyme for aldose reductase (makes sorbitol)…
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NADPH
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Urea cycle enzymes found in the mitochondria…
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For sure carbamoyl phosphate synthetase I, possibly ornithing transcarbamoylase
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Symptoms of hyperammonemia… tx…
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Tremor, slurred speech, somnolence, vomit, cerebral edema, blurry vision. Tx: limit protein, benzoate, phenylbutyrate (which bind AAs and cause them to be excreted)
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Findings in OTC deficiency…
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Orotic acid in blood and urine, decr BUN, hyperammonemia (cerebral edema, somnolence, vomiting, etc)
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Thyroxine derived from which AA…
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Tyrosine
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Histamine derived from which AA and what is coenzyme…
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Histidine, uses B6
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Derivatives of arginine…
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Creatine, urea, NO
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Coenzyme for conversion of glu GABA… what else is derived from glutamate…
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B6, glutathione other derivative
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Catecholamine synthesis pathway beginning w/ phe…
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Phe tyr dopa –(B6) -> DA –(vitC)-> NE –(SAM)->Epi
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Findings in infant of mother w/ PKU that isn’t properly tx…
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Mental retard, growth retard, microcephaly, congenital heart defects
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Inheritance of albinism due to tyrosinase deficiency… ocular albinism…
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Tyrosinase def- AR. Ocular- Xlinked
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Diagnosis of homocystinuria… tx of cystathione synthase def…
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Diagnosis- + nitroprusside test. Tx of cys syn def: decr Met and incr Cys, incr B12/folate
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Activates glycogen phosphorylase kinase… role of gly phosph kinase…
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Glucagons and epinephrine (thru incr cAMPPKA). Gly phosph kinase activates glycogen phosphorylase to break down glycogen
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Presentation of Cori’s dx… enzyme missing…
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Like Von Gierkes, get hypoglycemia and maybe hepatomeg but do NOT get lactic acidosis cuz gluconeogenesis intact. Missing 1,6 debranching enzyme
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Presentation of Gaucher’s dx, deficient enzyme, accumulated substrate…
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Hepatosplenomeg, aseptic necrosis of femur, bone crisis, crumpled tissue paper macros. Deficient beta-glucocerebrosidase. Glucocerebrocide builds up
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Besides HMP shunt, what is another source of NADPH…
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Malic enzyme, takes malate to pyruvate. Note: malate is product of OAA which is formed from citrate
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Citrate shuttle moves…
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Takes acetyl CoA from mitochondria to the cytoplasm (uses OAA and becomes citrate)
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Carnitine shuttle moves… what is it inhibited by…
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Takes Acyl-CoA from cytoplasm to the mitochondrial matrix for beta-oxidation. Inhibited by malonyl-CoA
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Symptoms and signs of carnitine deficiency…
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Inability to move LCFA into mitochondria. Get weakness, hypotonia, hypoketotic hypoglycemia
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Function of acetyl-CoA DEhydrogenase… signs and symptoms of defiency…
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Beta oxidation. Deficiency: incr dicarboxylic acids, decr glc and ketones
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Mechanism of how glc and FFAs are diverted to ketone body synthesis…
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Oxaloacetate is deplected for gluconeogenesis in starvation or in alcohol use, OAA diverted to malate. TCA cycle stalled and Ach goes to prodxn of ketone bodies
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Ketone NOT detected in urine ketone test…
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Beta-hydroxybutyrate
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Enzyme that converts IDL LDL…
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Hepatic TAG lipase
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Enzyme responsible for degradation of TGs stored in adipose tissue…
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Hormone sensitive lipase
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A-1 apoprotein action…
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Activates LCAT
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B100 apoprotein action…
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Binds LDL receptor, mediates VLDL secretion
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How are LDLs taken up…
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Receptor-mediated endocytosis
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Zonisamide
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Zonegran
adjunct for partial seizures for >16 yos |
