Busy. Please wait.
or

show password
Forgot Password?

Don't have an account?  Sign up 
or

Username is available taken
show password

why


Make sure to remember your password. If you forget it there is no way for StudyStack to send you a reset link. You would need to create a new account.
We do not share your email address with others. It is only used to allow you to reset your password. For details read our Privacy Policy and Terms of Service.


Already a StudyStack user? Log In

Reset Password
Enter the associated with your account, and we'll email you a link to reset your password.
Don't know
Know
remaining cards
Save
0:01
To flip the current card, click it or press the Spacebar key.  To move the current card to one of the three colored boxes, click on the box.  You may also press the UP ARROW key to move the card to the "Know" box, the DOWN ARROW key to move the card to the "Don't know" box, or the RIGHT ARROW key to move the card to the Remaining box.  You may also click on the card displayed in any of the three boxes to bring that card back to the center.

Pass complete!

"Know" box contains:
Time elapsed:
Retries:
restart all cards
share
Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page.

  Normal Size     Small Size show me how

MCB Phys-Biochem

MCB Physiology

QuestionAnswer
Histones Nucleosome=H2A, 2B, 3, 4. H1 is solo & ties nucleosomes. Hetero: Condensed, inactive chromatin. Eu: Less condensed, active chromatin.
Purines 2 Rings. Guanine & Adenosine. Requires Gly, Glut, Asp AAs from IMP precursor. Guanine has a Ketone.
Pyrimidine 1 Ring. Cytosine, Thymidine (methyl), Uracil. Orotate+ PRPP.
Nucelotide v. Nucleoside -side: Base + ribose. –tide: Base + ribose + Pi
Transition v. Transversion Transition: purine -> purine. Transversion: purine/pyrimidine -> pyrimidine/purine
Unambiguous, Degenerate/Redundant, Commaless/Non-overlapping, Universal Know it. Exceptions to universal code: Mitochondiria, archaebacteria, mycoplasma, some yeast.
Silent Mutation Same AA due to 3rd base wobble
Missense Mutation AA change
Nonsense Mutation AA-> Stop Codon (UGA, UAA, UAG)
DNA Gyrase Prokaryote-only Topoisomerase.
DNA Pol I, DNA Pol III, Primase DNA Pol I: Replaces RNA primer w/ DNA. DNA Pol III: Starts on a primer, 5-3 Polymerization 3-5. PRIMASE: Makes RNA Primer.
Nucleotide excision repair Endonucleases rip out portion of strand containing damaged bases. DNA pol & Ligase clean it up. Mutated in Xeroderma pigmentosum
Base Excision Repair DNA Glycosylase recognizes mutant base & pulls it off the backbone, AP Endonuclease IDs the baseless site & cleaves the backbone to be replaced by a POL.
Mismatch Repair Mutated in HNPCC
DS Break Repair Non-homologous end-joining
Protein Polymerization N to C
Start & Stop Codons Start: AUG-> methionine (eukaryotes), formyl-Met (prokaryotes). STOP: UAA, UAG, UGA.
Promoter Sequence Where DNA Pol +/- some transcription factors bind in front of gene (includes TATA boxes)
Enhancer Sequence Where transcription factors bind (anywhere)
Silencer Sequence Where negative regulators/repressors bind.
RNA Pol I, II, & III In eukaryotes only. RNA Pol I: rRNA. RNA Pol II: mRNA (inhibited by alpha-amantin in shrooms) RNA Pol III: tRNA. Prokaryotes have 1 RNA Pol that does it all.
RNA Processing heterogenous nuclear RNA (hnRNA) 5’Cap: Methyl-Guanosine; 3’ Poly A Tail (mRNA)
Spliceosome snRNPs. Consider alternative splicing (beta-thalassemia mutation)
tRNA 3’ end has CCA sequence & is where AA binds. Charged by Aminoacyl-tRNA synthase (2 ATP)
Ribosome Eu [60S + 40S-> 80s]. Pro [50s + 30s -> 70s]. Activated by GTP hydrolysis, IFs. A Site(Accepts tRNA), P Site (Peptide elongation), E site (Empty tRNA). Polymerization requires 2 GTP/AA added.
Protein Trimming Cleave N or C peptides to activate zymogens/pro-enzyme
G1-> S Regulation Buided by Rb & p53.
Nissl Bodies Synthesize secretory enzymes in neurons
SER Steroid synthesis & chemical detox, lot of SER in liver & steroid-producing cells.
Golgi Protein Modification adds O-oligosaccharides to Serine & Threonine, modifies N-oligosaccharides on asparagines. Addition of M6P -> lysosome. COP I: golgi -> ER. COP II RER-> golgi. Clathrin: Golgi -> everywhere but ER.
Drugs that act on microtubules Mebendazole/Thiabendazole (helminth), Pacitaxel (BRCA), Griseofulvin (Antifungal), Vincristine/Vinblastine (Cancer), Colchicine (gout). Cheidak-Higashi: polymerization defect-> less phagocytosis.
Phosphatidylcholine RBC membrane, myelin, bile, surfactant.
Vimentin Stain Connective tissue
Desmin Stain Muscle
GFAP Stain Neuroglia
Type 1 Collagen Most abundant protein in body. bONE, tendon, Skin, dentin, fascia , cornea.
Type 2 Collagen Cartilage, nucleus pulposus
Type 3 Collagen AKA reticulin. Skin, blood vessels, uterus, fetus, granulation tissue
Type 4 Collagen Basement membrane/Basal lamina
Pre-Secretory Collagen Synthesis 1) Synthesis in RER: Preprocollagen (Glycine + Proline/Hydroxylproline/Hydroxylysine) 2) Hydroxylation of non-gly AAs in ER (vitamin C-dependent) 3) Glycosylation of lysine in ER: (Osteogenesis Imperfecta) -> pro-collagen
Post-Secretory Collagen Synthesis 4) Secretion + cleavage of terminal procollagen-> tropocollagen 5) Lysyl oxidase cross-links lysine & hydroxylysine (Ehlers-Danlos).
Ehlers Danlos Syndrome Type III Collagen. Hyperextensible skin, bleeding, hypermobile joints. Variable inheritance & forms.
Osteogenesis Imperfecta Most are AD Collagen 1 synthesis disorder. Col1A1 & A2. Type 2 is in-utero fatal. Multiple fractures, blue sclera, hearing loss (bones), dental imperfections.
Elastin Lungs, large arteries, ligaments, vocal cords. Lots o’ proline, glycine. Fibrillin is scaffolding protein. Marfan: Fibrillin defect. Alpha1 antitrypsin: inhibits elastase.
Glycolysis Result 32 ATP in heart & liver (malate-aspartate shuttle), 30 ATP via G3P shuttle in muscle.
NADPH Generated by HMP shunt. Use: steroid & FA synthesis (anabolic processes), P-450, respiratory bursts:
NAD+ Catabolic processes
Hexokinase & Glucokinase Irreversible 1st step of glycolysis. HEXOKINASE: ubiquitous. high affinity & low Vmax, feedback inhibited by G6P, insulin. GLUCOKINASE: pancreatic beta cells & liver. Induced by insulin. Low affinity & high Vmax & sequesters glucose.
Enzyme-Deficiency Hemolytic Anemia LOF Pyruvate kinase >> Phosphoglucose Isomerase. RBCs can’t do anaerobic metabolism -> no Na/K ATPase -> cell lysis.
Pyruvate DeH & Alpha Ketoglutarate DeH Complexes Co-Factors: B1,2,3,5, Lipoic Acid. Arsenic --| Lipoic Acid -> -> Vomiting, rice water stools, garlic breath. B1 Def-> ->ATP depletion -> SM relaxation -> High output cardiac failure.
Pyruvate DeH Deficiency Pyruvate & Alanine backup -> Lactic Acidosis & neuro defects. Congenital or acquired (alcoholic B1 deficiency). Tx: High ketogenic diet (Fat, and lysine & Leucine)
Regions of Anaerobic Glycolysis RBCs, Leukocytes, Kidney medulla, Lens, Testes, cornea.
Ox Phos Poisons Electron Transport Inhibitors: CN, CO, Antimycin A, Rotenone. ATPase Inhibitors: Oligomycin. Uncouplers: 2,4 DNP, Aspirin, thermogenin in brown fat.
Incomplete Penetrance v. Variable Expression Incomplete penetrance: binary phenotype of a given genotype. Variable Expression: phenotype is along a spectrum
Pleiotropy Multiple genes affect a phenotype
Dominant Negative Mutation Normal allele is disrupted by mutant allele (ie- Osteogenesis Imperfecta)
Locus heterogeneity Mutations at different loci can produce the same phenotype (ie-albinism)
Heteroplasmy Presence of normal & mutated mtDNA-> variable expression patterns in mitochondrial diseases
Uniparental disomy 2 copies of a chromosome from 1 parent, 0 from the other.
Imprinting 1 of 2 genes is permanently inactivated by methylation. Prader-Willi: Deletion of normally active paternal. Angelman: Deletion of normally active maternal allele.
APKD1 Chromosome 16. AD
Von Hippel Lindau AD. Hemangioblastomas, renal cell carcinoma. VHL gene deletion (Ch 3)
Huntington’s Disease AD. Reduced GABA & ACh. Chromosome 4.
Familial Adenomatous Polyposis AD. Adenomatous polyps in colon by puberty->-> colon cancer. Chromosome 5 Del (# in “polyp”)
Achondroplasia AD. Fibroblast GF receptor 3 LOF-> dwarfism, short limbs, normal trunk. Assoc. w/ advanced paternal age.
Things I don’t know about CF Chromosome 7. Def. of fat-soluble vitamins (ADEK), N. Acetylcysteine loosens mucous plugs. Meconium ileus in newborns
X-Recessive Diseases that I don’t know Bruton’s Agammaglobulinemia, Wiskott-Aldrich Syndrome, G6PD def, Ocular albinism, . Lesch-Nyhan Syndrome, Fabry’s Disease, Hunter’s Syndrome
Fragile X Syndrome CGG repeat -> overmethylation of the region -> inactivation of FMR1 gene -> #2 cause of MR, Macro-orchidism…
Myotonic Dystrophy Myotonic grip, balding, cataracts, testicular atrophy. Trinucleotide repeat -> sequesters splicing factors -> deficiency in other gene expression.
Edward’s Syndrome Prominent occiput, small jaw, low ears, clenched hands, rocker bottom-feet. Trisomy 18 (Election age). Severe MR, <1 yr life expectancy.
Patau’s Syndrome Micropthalmia, microcephaly, cleft lip/palate, polydactyly, rocker-bottom feet. Trisomy 13 (Puberty age). Severe MR & <1yr life expectancy.
PerIcentric v. ParAcentric Chromosomal Inversion ParIcentric: involves centromere, can go through meiosis. ParAcentric: Doesn’t involve centromere, doesn’t go through meiosis
Cri-du-chat Syndrome Chromosome 5 arm deletion-> MR & Microcephaly, high pitch crying, epicanthal folds, cardiac probs.
22q11 Syndrome DiGeorge: thymic aplasia, heart defects, hypocalcemia. Velocardiofacial Syndrome: Cleft palate, abnormal facies, heart defects
Created by: Kyle Tiemeier