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347 Cards in this Set
- Front
- Back
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What drug block DNA Topoisomerase II? Prok? Eukar?
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Prok: nalidixic acid/quinolones
Eukaryotes: etoposide and teniposide |
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Which cells contain telomerase? What are they linked with?
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embryonic, germ cells, stem cells except somatic cells
- cancer/malignant cells have a high level of telomerase They are linked with apoptosis |
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What is another name for topoisomerase II in PROK?
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DNA gyrase
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What nucleic acid has the most methyl groups?
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Cytosine
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What happens when you take a methyl out of Cytosine?
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It becomes demethylated to Uracil
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During what cell cycle does DNA repair occur?
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G1 Phase
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When does mismatch repair occur? (phase)
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G2 phase
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What does p53 gene encode for?
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Protein that prevents a cell w/ damaged DNA from entering the S phase
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What disease is associated with p53 gene?
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Li Fraumeni Syndrome and many solid tumors
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What is ATM gene?
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ATM encodes for a kinase needed for p53 to work
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What is ATM gene associated with?
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ataxia telangiectasia
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What is ataxia telangiectasia?
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hypersensitivity to X-rays
predisposition to lymphomas |
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What is BRCA1 associated with?
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Breast, Prostate and Ovarian Cancer
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What is BRCA 2 associated with?
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Breast cancer
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What are BRCA1 and 2 associated with?
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required for p53 activity
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What happens when UV light damages DNA? What disease is prone to this damage? Why?
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it crease thyamine dimers
- patients with Xeroderma Pigementosa - they lack excision endonuclease |
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What does Xeroderma Pig. consists of?
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- Extreme UV sensitivity
- excessive freckling - multiple skin cancers - corneal ulcerations |
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What are two diseases that are associated with DNA repair?
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Xeroderma and Hereditary Nonpolyposis Colorectal Cancer (HNCC)
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What drug inhibits DNA dependent RNA polymerase?
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Rifampin
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What drug binds to DNA preventing its transcription?
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Actinomycin D
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What drug inhibits RNA polymerase II?
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amanitin (from mushrooms)
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Which RNA do RNA Pol 1,2 and 3 code for?
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1 2 and 3 rhyme with R M T
respectively 1 rRNA 2 mRNA 3 tRNA |
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What is similar to sigma factor in Eukaryotes?
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TFIID, transcription factors II
they bind before RNA Pol, just like Sigma factors |
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How does RNA pol know where to start?
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- sigma factor needs to find promoter region
- two consensus sequences are recognized as TATA BOX |
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How long does sigma stay bound to DNA?
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As soon as transcription begins, sigma is released
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How does mRNA know when to stop trasncription?
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Rho-independent termination occurs when newly formed RNA folds on itself to form GC-rich hairpin loop
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How does Rho-dependet termination work?
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Rho displaces RNA pol from the 3' end of the RNA once it has paused at the termination site
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What binds to Shine-Dalgarno sequence?
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Ribosomes
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Where are Shine-Dalgarno sequences located?
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5' end
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What is unique about prokaryotic transcription and translation?
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They can both start at the same time with the help of Shine-Dalgarno sequences which allow ribosomes to hook on and start the translation before transcription is done
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What is Shine-Dalgarno?
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Shine-Dalgarno sequences lets prokaryotes shine! They can do 2 things at the same time! Transcribe and TRANSLATE!
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What are the three STOP codons?
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UAG
UAA UGA U Are Gone U Are Away U Go Away |
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What is the poly-A tail added for?
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1) protect from rapid degradation
2) transport to cytoplasm |
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What is added at the 5' end of the transcribed mRNA?
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It is actually hnRNA and a methylguanosine cap Me-Gppp is added to the 5' end
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What is the function of the methyl guanosine cap?
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It helps protect the mRNA chain from degradation
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Where is the poly A tail added?
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3' end
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What can you say about the length of the poly A tail?
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The longer the more stable the mRNA (hnRNA)
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What is another name for spliceosome?
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snRNP, SNURP
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What is the function of spliceosomes?
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They excise introns and leave only exons to be expressed
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What disease has a problem in spliceosomes/snRNP?
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B-thatlassemia since mutations interfere with the splicing of Beta-Globin mRNA
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How are the introns degraded?
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They are degraded in a lariat structure and excised by spliceosomes
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How can you calculate how many introns you have?
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I=E-1
If you have 4 exons Then you have I=4-1 I=3, 3 introns |
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Where is the activated amino acid in a tRNA?
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at the 3' end
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How does tRNA accomplish its lariat shape (loop/cloverleaf)?
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it has weird bases like:
D T Pseudouridine |
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Where is the anticodon found in the tRNA?
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in the middle of the loop
center loop in between 5' and 3' ends |
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How do you know a protein is marked for destruction?
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It has been ubiquiniated by ubiquitin
Usually because of misfolding |
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Who translates proteins for cytoplasm and mitochondria?
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free cytoplasmic ribosomes
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Who transtalates proteins for secreted proteins, membrane proteins, and lysosomas enzymes?
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Rough E.R.
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How can you make a protein to be delivered to the R.E.R.?
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N-terminal hydrophobic signal sequence has to be added to be secreted or placed in the membranes
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How do you direct a prtoein to go inside a lysosome?
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It is phosphorylated with a mannose residue in the R.E.R.
- usually this protein is an enzyme to be delivered to the lysosome |
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What happens to misfolded proteins?
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They are mark with ubiquitin to be destroyed by proteosomes
you will be liquidated!!! Ubiquinated!!!! |
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What are proteosomes?
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They are large cytoplasmic complexes that digest damaged proteins
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What enzyme is deficient in Fabry's Dz?
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alpha-galactosidase A
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What enzyme is deficient in Krabbe's Dz?
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BB for beta-galactosidase
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What enzyme is deficient in Gaucher's Dz?
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beta-glucocerebrosidase
(It is in the center of the reactions) |
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What enzyme is deficient in Niemann-Pick's Dz?
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Sphingomyelinase
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What enzyme is deficient in Metachromic Leukodystrophy?
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Arylsulfatase A
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What enzyme is deficient in Tay Sachs Dz?
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Hexosaminidase A
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What accumulates from Fabry's Dz?
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ceramide trihexoside
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What is the finding in Fabry's Dz?
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renal failure
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What accumlulates in Krabbe's Dz?
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galactocerebroside in the brain
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What is the finding in Krabbe's Dz?
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Optic atrophy
spasticity early death The krabbe got your eyes! |
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What accumlulates in Gaucher's Dz?
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glucocerebroside
- brain - liver - spleen - bone marrow G is for Glucocerebrosidase |
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Characteristic Crinkled paper enlarge cytoplasm
gaucher's cells - progessive hepatosplenomegaly - flaring of distal femur |
What are the findings in Gaucher's Dz?
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What accumlulates in Neimann Pick's Dz?
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sphingomyelin and cholesterol
No man Picks his nose with hiSPHINGER |
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Wnat are the findings in Neimann Pick Dz?
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increase cholesterol and sphyhingomyelin in reticuloendothelial and parenchymal cells
- Patients die by age 3 |
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What accumlulates in Tay Sachs Dz?
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GM2 ganglioside 2
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What are the findings in Tay Sachs Dz?
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Cherry-red spot on macula
1:30 carrier in European Jews Death by age 3 Got a Sach of Cherries in your Macula |
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What accumlulates in Metachromatic Leukodystrophy?
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sulfatide in:
- brain - kidney - liver - peripheral nerves |
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Which lysosomal storage diseases (of the sphingolipidoses) are autonomal recessive?
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All except Fabry's!!!
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What lysosomal storage disease are x-linked?
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sphingolipidosis: Fabry's
mucopolysaccharidoses: Hunter's Hunter's hit the X |
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What mucopolysacharidose Dz has no corneal clouding?
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Hunter's
They need to see what they hunt! |
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What enzyme is deficient in Hurler's Dz?
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alpha-L-iDURONidase
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What enzyme is deficient in Hunter's Dz?
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iDURONate sulfatase
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What increases in Hurler's Sx?
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heparan and dermatan sulphate
mucopolysaccharides |
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What are the signs of Hurler's Sx?
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Halted growth
Progressive mental retardation Thick, coarse facial features with low nasal bridge Cloudy corneas Deafness Joint disease, including stiffness Heart value problems Abnormal bones of spine and claw hand |
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How do we screen for Hurler's Sx?
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Urine Heparan and Dermatan sulfate
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What is a term associated with Hurler's Sx?
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Gargoylism since there are facial deformities
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What signs and symtoms are associated with Hunter's Sx?
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protuberant abdomen, claw hands, excessive hair growth, coarsening of the face with grotesque facial features; retarded growth, and behaviour problems.
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Which syndrom is severe? Hurler or Hunter?
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Hurler's Syndrome
It is termed MPS I Hunter is MPS II |
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What amino acid is unique to collagen?
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Hydroxyproline
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Where does glycosylation occur?
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E.R. and Golgi apparatus
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Which enzymes are requiered to make collagen?
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proline and lysine hydroxylases
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What vitamin is needed to make collagen?
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Vitamin C
- Hydroxylates Proline and Lysine in the RER |
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What are some co-factors of lysyl oxidase?
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O2 and Copper (Cu)
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What Dz results from deficiency of Lysyl Oxidase and why?
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Deficient Copper (Cu2+)
Menke's Dz is a genetic deffect that decrease collagen synthesis |
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What enzyme is deficient in Ehler's Danlos?
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Lysine Hydroxylase
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What are the signs and symptoms of Menke's Dz?
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Depigmented (steely) hair
Arterial tortuosity, rupture Cerebral degeneration Osteoporosis |
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What collagen is affected in Osteogenesis Imperfect?
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Type I for bONE
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What do you see in patients with Osteogenesis Imperfecta?
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skeletal deformities
fractures blue sclera |
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What other disease is involved in Copper usage?
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Wilson's Dz but it is a Copper (Cu2+) toxicity
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What are some symptoms of Wilson's Dz?
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Liver Cirrhosis
Cu damages nerves and causes Brown Kaisser-Fleischner Rings |
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What inhibits eEF-2? Elongation factor 2 in Eurkaryotes
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Diphtheria and Pseudomonas Toxins
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What inhibits protein translation in Eukaryotes?
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Diphteria and Pseudomonas
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Where do Diphtheria and Pseudomonas act?
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eEF-2 is inhibited
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How many ATPs high energy bonds are needed to translate an amino acid?
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4 Total for each amino acid
breakdown: 2 ATP for charging 1 GTP for initiation 1 GTP for Elongation |
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What is the antibiotic of choice for pertussis?
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Erythromycin; blocks transLOcation
macrOLide |
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What results in Menkes Dz?
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- Fragile bones
- Fragile blood vessels from poorly crosslinked connective tissue |
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What blocks ADP ribosylation of EF-2?
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Diphtheria and Pseudomonas
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Genetic Regulation
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Chp. 5
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What is an operon?
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group of proteins required for a particular metabolic function
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Where is the regulatory region in Prokaryotes?
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Upstream on the 5' end
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What kind of mRNA does the operon produce?
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Polycistronic mRNA
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What two ways of transcriptional control exist in prokaryotes?
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regulation of activator and repressor proteins
Attenuation |
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Where do we find Attenuation?
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Histidine Operon
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What model do we use for activator and repressor proteins?
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Lac Operon
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What two regulatory proteins exist in the Lac Operon Control?
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lac repressor protein
c-AMP-dependent activator protien (CAP) |
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What does the lac operon sense?
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glucose is preferred but in the absence lactose is taken as energy
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What regulates the CAP?
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cAMP levels
if glucose is low, cAMP increases and activates it |
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What happens to the lactose operon if glucose is present?
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it is shutdown
glucose decreases cAMP so CAP doesn't bind to CAP site |
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When does CAP bind to CAP site?
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when glucose is low since cAMP is high
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When is the repressor protein made?
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Always since it is embedded in the mRNA sequence
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What does lactose do to the lac operon?
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lactose induces gene expression since it prevents the repressor protein from binding to the operator sequence
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If lactose is high and glucose is low what happens?
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1) lactose binds to repressor and stimulates gene expresssion
2) cAMP is high so it binds to CAP protein and |
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When does the lactose operon stop sequence?
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when the repressor protein is bound to the operator
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When is high expression of the lac operon found?
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High lactose and no glucose
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When glucose is present does cAMP go up or down?
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they are inversely proportional
Glucose high cAMP low glucose low cAMP high |
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When glucose is high, what happens to the repressor?
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it remains active since CAP can't block it (cAMP is low)
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What compounds are formed when lactose is broken down?
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galactose and glucose
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What enzyme degrades lactose?
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Beta-Galactosidase
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Where does RNA polymerase work on?
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Promoter
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Lactose goes with
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Repressor
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Repressor attaches to?
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Operator
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Attenuation??? Which operon?
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Histidine Operon
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What happens when histidine is absent?
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enzymes are produced
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What other a.a. work similar to the Histidine Operon?
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Tryptophan
Leucine Phenylalanine |
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What is attenuation?
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premature termination of transcription
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What does attenuation in prokaryotes depdend on?
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The fact that transcription and translation occur simultaneously in prokaryotes
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What happens if histidine is present?
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Transcription is terminated before RNA pol reaches operon
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Can attenuation occur in Eukaryotes?
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No! Transcription and translation are two separate, independent events
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What starts translation after leader peptide is made?
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Shine-Dalgarno sequence
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What happens when histidine is low?
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the ribosomes will stall and not form the stem and loop + poly U that stops the ribosomes and they will continue to transcribe the genes of the operon
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What are activator proteins called in Eukaryotes?
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Response Elements
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Where are response elements located?
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Some upstream in promoter region
Most in an enhancer region outside of promoter even more upstream |
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Where are upstream promoter elements located?
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Just upstream of -25 sequence TATA Box
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What does the upstream promoter elements include?
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CCAAT Box (-75) NF-1
GC-rich SP-1 (in between -25 and -75) |
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What are the characteristics of enhancers?
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Contain activator proteins
- may be 1000 bp away from gene - upstream, downstream, within an intron -they are tissue specific |
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What are repressor proteins in Eukaryotes called?
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Silencers
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What are cis regulators?
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DNA regulatory base sequences/binding sites for proteins
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What are trans regulators?
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transcription factors
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What are the properties of a trans regulatory property?
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they can diffuse through the cell to their point of action.
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What protein class are steroid receptors?
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Zinc Finger
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What protein class are cAMP response element binding prtoeins? (CREBs)
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Leucine Zipper
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Homeodomain proteins are what protein class and what are they involved in?
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Helix-turn-helix
Regulate gene expression during development - embryonal development |
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What protein class are peroxisome proliferator-activated receptors? (PPARs)
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Zinc finger proteins
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What is the response element for 1) steroid receptors?
for 2) cAMP? for 3) peroxisome (PPARs) |
1) HRE
2) CRE 3) PPREs |
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Which response element is induced with the new tx for insulin resistance?
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PPARs
- thiazolidinediones |
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What is a new drug that targets Peroxisime proliferator-activated receptors? (PPARs)
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Clofibrate
-affects lipid metabolism |
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What happens when glucose is low?
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Glucagon released
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What is the effect of glucagon on gene regulation?
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increases cAMP
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What happens in time of stress?
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Cortisol secreted
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What does cAMP do?
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- activates Protein Kinase A
- CREB is activated via phosphorylation |
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CREB binds to what in the nucleus?
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CREB enters the nucleus and binds CRE region in the enhancer region
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What does the GRE and CRE region do?
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They enhance or activate PEPCK gene
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Who activates GRE enhancer region?
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cortisol (glucocorticoid response element)
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Who activates CRE enhancer region?
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Active CREB (cAMP response element) which is activated by cAMP
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What are two homeodomain protein regulator genes?
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HOX and PAX genes
Homeobox and Paired-Box genes |
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What disease is associated with PAX (paired-box) genes?
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Klein Waardenburg syndrome (WS-III)
dystopia canthorum, pigment abnormalities congenital deafness limb abnormalities |
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What are some exceptions to codominat expression?
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- Barr Body (inactive X chromosome) in women
- Ig heavy and light chain loci - T-cell receptor loci |
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What happens when genes become acetylated?
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The histones are acetylated and it increases gene expression
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How do genes become silenced? Give two diseases that follows this...
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Methylation of DNA silences genes
Prader-Willi and Angelman Sx |
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What chromosome is involved in defect of imprinting?
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Chromosome 15
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What is the problem in Prader-Willi Sx?
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Prader-Willi region is inherited from Paternal Origin (P for P)
so, if father has defective chromosome 15 then symptoms will occur |
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What are the symptoms of Prader-Willi Sx?
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- Childhood obesity + hyperphagia
- Hypogonadotrophic hypogonadism - Mental Retardation - Hypotonia |
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How else can you get Prader-Willi Sx?
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uniparental (maternal) disomy of chromosome 15
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When does upstream termination occur?
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When histidine is present
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When does downstream termination occur?
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when histidine is absent
* this is a normal termination |
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What kindo of domain do HOX and PAX have?
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helix-turn-helix domain
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What is the first step in increase activity of beta-galactosidase activity?
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increase in cAMP due to glucose depletion
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Why does beta-galactosidase activity decrease?
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depletion of lactose
- dissociation of repressor protein - binding of repressor to operator control region |
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Chp. 6
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Recombinant DNA
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WHat does restriction sites provide?
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Usually defense against DNA viruses
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How do palindromes get protected in bacterial DNA?
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methylase enzyme modification
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How is infecting viral DNA recognized?
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unmethylated palindromes are recognized by restriction endonuclease
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What is a vector?
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piece of DNA that is capable of autonomous replication in a host cell
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What is recombinant DNA?
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when a fragment is placed inside a vector
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What is a genomic DNA library?
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colonies produced by plating the recombinant DNA with antibiotic resistance and sensitivity
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What can restriction site polymorphisms be used for?
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These enzymes cut DNA sequences and detect defects in longer sequences or shorter sequences.
Example: Sickle Cell Mutation which results in ONE long 1.35 kb fragment instead of a 1.15kb and a 0.2kb fragment (2 fragments is normal) |
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What do cDNA lack?
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introns
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What must cDNA contain?
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complete coding sequence of a gene
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What is produced at the end of a cloning procedure?
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An expression library
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What do you do after reverse transcriptase has created the first strand of cDNA?
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Treat DNA with NaOH to remove mRNA template
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What enzyme do you use to create cDNA?
|
reverse transcriptase
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How do you remove mRNA template strand in making cDNA?
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NaOH (sodium hydroxide)
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What must be inserted in order to produce proteins as the end product of cloning?
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- Bacterial Promoter
- Shine-Dalgarno Sequence |
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What are 3 examples in which cDNA expression libraries are being used?
|
1) Recombinant Human Insulin
2) Recombinant Factor VIII (treating Hemophilia A) 3) Recombinant HBsAg (antigen(protein) is made and given to patients to immunize them against hepatitis B without introducing the live virus) |
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Does the gene therapy cure the patient and subsequent generations?
|
NO! it cures only the patient since it is only introduced into the affected organ and not into the reproductive tissues of the afected individual
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What is a transgenic animal?
|
animal in which a new gene has been introduced into its germline
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How is gene therapy different from Transgenic Animals?
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transgenic animals have virtually new gene in every cell, including the gametophytes so that they get passed on to their offspring and these are no longer affected by the defect
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What are genomic libraries used for?
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studying DNA sequences that are not expressed
- response elements - introns - promoters Constucting restriction maps of DNA (sickle cell) Id genetic markers (microsatellites) |
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Chp. 7
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Genetic Testing
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What are the Autosomal Dominant Dz characteristics?
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- Only one mutant allele needed
- both sexes affected - male to male transmission |
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What are the Autosomal Dominant Dz?
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1) Familian Hypercholesterolemia (LDL receptor def.)
2) Huntington Dz 3) Neurofibromatosis I 4) Marfan Sx 5) Acute Intermitent Porphyria |
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What are the characteristics of autonsomal recessive?
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- two mutant alleles are requiered
- born to unaffected parents - either sex - male to male transmission |
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What are some of the autosomal recessive dz?
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* Sickle Cell Anemia
* Cystic Fibrosis * Phenylketonuria * Tay-Sachs Dz (Hexosaminidase A def.) |
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What are the traits of X-linked dominant?
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- One mutant allele
- either sex - affected male passes on to all daughters - affected female passes trait to both fem and males |
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What are 2 X-linked Dominant Dz?
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- Hypophosphatemic Rickets
- Fragile X syndrome |
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What are the traits of X-linked recessive dz?
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- usually males are affected
- no male to male transmission |
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What are some of the X-linked recessive dz?
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1) Duchene Muscular Dystrophy
2) Lesch Nyhan Sx (Hypoxanthine-guanine phosphoribosyltransferase HGPRT)self mutilation 3) Glucose-6-Phosphate Dehydrogenase def. 4) Hemophilia A and B |
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What is the trait of Mitochrondrial Inheritance?
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- inherited maternally
- ALL offspring of affected female are affected! |
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What are the 3 diseases that arise from Mitochrondrial Inheritance?
|
LHON, MELAS and MERRF
1) Leber Hereditary Optic Neurophathy 2) Mitochondrial Encephalomyopathy, lactic acidosis, stroke-like episodes 3) Myoclonic epilepsy with ragged red muscle fibers |
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What form of inheritance is Cystif Fibrosis?
|
autosomal recessive
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How do you inherit Hungtington Dz?
|
Autosomal Dominat
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What form of inheritance is sickle cell disease?
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autosomal recessive
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What form of inheritance is Fragile X Sx?
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X-linked Dominant
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How is Phenylketonuria inherited?
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autosomal recessive
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How is Lesch-Nyhan Sx inherited?
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X-linked recessive
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How is Neurofibromatosis I inherited?
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Autosomal Dominant
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What is the mode of inheritance of Marfan Sx?
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Autosomal Dominant
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How is Leber Hereditary Optic Neuropathy inherited?
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Mitochrondrial Inheritance
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How is Duchenne Muscular Dystrophy inherited?
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x-linked recessive
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How is myoclonic epilepsy inherited?
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mitochrondrial inheritance
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How is Acute intermittent porphyria inherited?
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Autosomal DOMINANT
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How is Rickets inherited?
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X-linked Autosomal Dominant
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How is Cystic Fibrosis inherited?
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autosomal recessive
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How is Phenylketonuria inherited?
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autosomal recessive
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How is Familia Hypercholesterolemia inherited?
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Autosomal Dominant
LDL receptor deficiency |
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How is Tay-Sachs Disease inhertied?
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autosomal recessive
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How is Lesch-Nyhan Sx inherited?
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HGPRT def.
X-linked recessive |
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How is Hemophilia A and B inherited?
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X-linked recessive
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How is Glucose-6-phosphatase inherited?
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X-linked recessive
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How is cystic fibrosis inherited?
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CFTR autosomal recessive
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Which RNA is identical to the coding strand?
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the mRNA
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What is the template strand?
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The strand that is compelementary and antiparallel to the mRNA
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What amino acids (a.a.) are precursors of catecholamines?
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Phenylalanine and Tyrosine
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What does tryptophan form?
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Serotonin and Niacin
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What a.a. is involved in depression?
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Tryptophan--> makes Serotonin
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What a.a. are involved in maple syrup disease?
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Isoleucine, Leucine and Valine
I Love Vermont maple syrup!!! |
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What a.a. is a secondary amine?
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Proline
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What does Proline do to the protein structure?
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disrupts secondary structure
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What are the acidic a.a.?
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aspartic acid and glutamic acid
negatively charged coo- |
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What a.a. are basic? 3
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Histidine, Arginine, Lysine
BASE HAL They are positively charged NH+ |
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What a.a. is associated with the Golgi apparatus? 2
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serine and threonine
O-linked glycosylation Mannose-6-phosphate lysosomes |
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What a.a. is associated w/ endoplasmic reticulum and export of proteins?
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Asparagine
N-linked glycosylation |
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What are two a.a. that conatin sulfure?
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Cysteine and Methionine
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What does cysteine do to the protein structure?
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stabilize the shape of proteins (3ry structure)
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What two a.a. are linked with post-translational modificacion?
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serine, threonine and asparagine
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What a.a. is a methyl donor?
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methionine
S-adenosaylmethionine (SAM) |
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What does tyrosine make?
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Catecolamines
Thyroid T3/T4 Melanin |
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What is the smallest a.a.?
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glycine
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What a.a. makes tyrosine?
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Phenylalanine
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What is made with tyrosine?
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cathecholamiens
thyroid T3T4 melanin |
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What a.a. is associated with Vitamin B3?
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tryptophan is asociated with B3 (niacin)
NAD |
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What disease is also related to tryptophan deficiency and pellagra?
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Hartnup Dz
since decreases Niacin B3 and causes Pellagra (dermatitis, diarrhea, demetnia) |
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What a.a. contributes to the negative charge of proteins?
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aspartic acid coo-
glutamic acid |
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What a.a. contributes to the positive charge of proteins?
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lysine and arginine
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What a.a. is abundant in RBC?
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histidine since it brings the pH to 7.0
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What is the only a.a. that is useful in maintaining the physiologic pH (7.2-7.4)?
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Histidine pK at 7.0
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What are the essential amino acids?
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PVT TIM HALL
Private tim hall |
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What does PVT TIM HALL stand for?
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Phenylalanine
Valine Tryptophan Threonine Isoleucine Methionine Histidine Arginine Leucine Lysine |
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What charge is the protein if the pH is lower than the pI?
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positive
- it is trying to compensate and neutralize it (buffering it) |
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What charge is the protein if the pH is higher than the pI?
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negative
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What are Cooperative Enzymes called?
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Allosteric Enzymes
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WHat happens when Km increases?
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the affinity is low
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What do enzymes do with chemical Rx?
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decrease energy of activation
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What happens when there is a competitive inhibitor?
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Km increases, Vmax stays the same
Thin Kompetitive Increases |
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What happens when noncompetitive inhibitor binds?
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Km no effect, Vmax decreases
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What happens when an irreversible inhibitor binds?
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Km no effect, Vmax decreases
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What are two examples of competitive inhibitors?
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HMG-coA reductase
Methotrexate (inhibits folic acid dihidrofolate reductase) |
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What hormones affecte near-by organs?
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paracrine
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What hormones go around the body through long distances?
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telecrine
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What are two examples of paracrine hormones?
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prostaglandins and neurotransmitters
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What are two classes of telecrine hormones?
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endocrine and GI hormones
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What are the two classes of hormones?
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Hydrophocis and Hydrophilic
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Where is the receptor for water soluble hormone? Lipid soluble?
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Water- receptor on cell membrane
Lipid - inside the cell Zinc Finger |
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What happens to the hormone inside the cell?
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Water - second messengers
Lipid - hormone receptor complex binds to response elements (HRE in enhancer region) |
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How are water soluble hormones controlling gene expresion?
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Through proteins like cAMP respones element binding (CREB)
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Which process (water or lipid soluble) is faster?
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water soluble
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What hormone group uses Leucine Zippers?
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Water Soluble
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Give three examples of water soluble?
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Insulin
Glucagon Catecholamines |
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What are 4 examples of lipid soluble hormones?
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Steroids
Calcitriol Thyroxines Retinoic Acid |
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What are the three second messengers for water soluble hormones?
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cAMP
PIP2 (DAG, IP3, Ca2+) cGMP |
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What does cAMP control? protein/enzyme/kinase?
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Gs protein, adenyl cyclase enzyme, protein kinase A
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What does PIP2 control? protein/enzyme/kinase?
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Gq, phospholipase C, protein kinase C
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What does cGMP control? protein/enzyme/kinase?
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none, guanyl cyclase, protien kniase G
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What are two examples of cAMP control?
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glucagon
epinephrine (alpha2 and beta) |
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What are two examples of PIP2?
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vasopressin
epinephrine (alpah 1) |
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What are two examples of cGMP?
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Atrial Natriuretic Factor (ANF)
Nitric Oxide (NO) |
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What does insulin, growth factor control? protein/enzyme/kinase?
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monomeric p21ras, none, tyrosine kinase
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What are some examples of insulin and growth factors control?
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insulin
insulin-like growth factor (IGF) platelet-derived growth factor (PDGF) Epidermal Growth Factor (EGF) |
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What water soluble hormone system has a 7 helix-span?
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cAMP and PIP2 system
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Whioh system works inside the nucleus?
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cAMP through CREB protein
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Which system works with the E.R.?
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PIP2, releases Ca2+ from E.R.
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What system doesn't requiere G proteins?
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cGMP for example Atrial Natriuretic Factor (ANF)
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What two protoncogenes are associated with G proteins?
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1) p21ras oncogene
colon, lung, breast and bladder CA 2) gsp oncogene pituatary tumor, adenomas, endocrine ovarian turmos |
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What protein is stimulated in Cholera toxin?
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Gs alpha stimulates increase in cAMP
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What is similar in ADP-ribosylation of Gs alpha?
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Cholera toxin and E. coli toxin
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What bacteria inhibits Gi alpha?
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Pertussis
Increase activity of adenyl cyclase |
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What does p21 ras do?
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stimulates monomeric G protein
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What is SH2 linked with?
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Tyrosine Kinase
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What is sildenafil associated with?
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inhibits cGMP phosphodiesterase (PDE) in vascular smooth muscle
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What is the correct sequence in cGMP and sildenafil?
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increase cGMP--> increase protein kinase--> vasodilation
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What is associated with growth factor?
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tyrosine kinase
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Vitamins
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Chp. 10
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What enzymes is biotin involved in?
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All cabroxylases
pyruvate, acetyl coA, propionyl coA carboxylase |
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Which enzymes is vitamin B1 involved in?
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Thiamine is B1 involved in
pyruvate dehydrogenase alpha-ketoglutarate dehydrogenase transketolase |
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What pathways are involved with Thiamine?
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B1 is involved in:
PDH (pyruvate DHG) TCA cycle (alpha-kg) HMP Shunt (transketolase) |
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What are the symptoms of B1 deficiency?
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Wernicke- ataxia, nystagmus, ophtalmoplegia
Korsakoff- confabulation, psychosis Wet Beri-beri cardiac failure lots of ATP needed |
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What is vitamin B3?
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Niacin
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What is vitamin B3 involved with?
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dehydrogenases
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What co-factors are made by B3?
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NAD and NADP
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What disease comes about with B3 deficiency?
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diarrhea, dementia, dermititis
pellagra |
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What is a.a. deficient in B3 deficiency?
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tryptophan (in corn)
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What is folic acid involved in? (enzyme)
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thymidylates synthase
purine synthesis enzymes |
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What is the MCC of B1 deficiency?
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Alcoholism
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What is the MCC of thiamine def.?
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alcoholism and pregnancy
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How long is thiamine stored?
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3 months
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What are the risks of folic acid deficiency?
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homocystinemia
deep vein thrombosis and atherosclerosis |
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What happens to fetus if there is folic acid def.?
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neural tube defects
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What is vitamin B12 involved in? enzymes?
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Homocysteine methyltransferase
Methymalonyl CoA mutase |
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What pathways is B12 involved in?
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methionine, SAM
odd-carbon FA val, met, ile, thr |
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What two vitamins cause megaloblastic anemia?
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B12 and folic acid
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What is the MCC of B12 def?
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pernicious anemia
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What are other causes of B12 def.?
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aging, poor nutrition, bacterial overgrowth of terminal ileum
resection of terminal ileum secondary to Crohn's DZ chronic pancreatitis vegans infection with D. Latum |
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What is the difference between B12 and folic acid def.?
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B12 has progressive peripheral neuropathy
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What enzymes are involved with B6 vitamin?
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B6 is pyridoxine
Aminotransferases AST (GOT) ALT (GPT) Lamba-Aminolevulinate synthase |
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What pathways is B6 involved in?
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protein catabolism
heme synthesis |
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What is the MCC of vit. B6 def.?
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isoniazis therapy
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What do you find in B6 def.?
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sideroblastic anemia
cheilosis and stomatitis convulsions |
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What is B2 vitamin?
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RI BO flavin
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What cofactors are derived from B2?
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FAD(H2)
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What enzymes are involved with B2?
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dehydrogenases
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What findings w/ B2 def?
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Corneal neovascularization
Cheilosis Stomatitis Magenta-Colored Tongue |
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What enzymes are involved with vitamin C?
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prolyl hydroxylases
Lysyl hydroxylases DOPAMINE hydroxylase |
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What pathways are involved with vitamin C?
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collagen syntehsis
catecholamine synthesis (absoprtion of Iron from GI tract) |
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What is the MCC of vit. C def?
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diet deficient in fruit and green vegetables
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What vitamin is involved in carboxylation of glutamic acid?
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vitamin K
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What factors are involved in vitamin K?
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2, 7, 9, 10 Protein C and S
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What is vitamin A involved in? Dz?
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night blidness
follicular hyperkeratosis xerophtalmia |
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What is another name for vitamin A?
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carotene
involved in retinoic acid and retinol ol oic behave as steroid hormones |
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What part of vitamin A is involved in rod and cone cell division?
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Retinal
al |
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What vitamin prevents oxidation of LDL particles?
|
vitamin E
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What is another name for vitamin E?
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tocopherol
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What vitamin acts as steroid hormone uptake of dietary Ca+ from gut?
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Vitamin D
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What two disease cause by vitamin D def?
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children: Rickets
Adults: Osteomalacia |
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What is the physiologic response to hypocalcemia?
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- increase PTH
- PTH binds to proximal tubules - cAMP activate 1-alpha-hydroxylase - 1,25 DHCC acts on duodenal epithelial cells - Zinc finger proteins binds to response elements (in enhancer region of DNA) - induce synthesis of calcium binding proteins |
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What vitamin is toxic in pregnancy?
|
Vitamin A (Acutane) used to treat ACNE
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What vitamin D does the skin produce?
|
cholecalciferol (vitamin D3)
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What happens to vitamin D in the liver?
|
25-hydroxylation in the liver
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What is needed in patients with renal dz, fanconi sx, and genetic deficiency of 1-alpha-hydroxylase?
|
they all need to be supplemented with 1,25 DHCC
dihydrocolecalciferol since renal 1-alpha-hydroxylase is not working |
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Patients with liver damage should be given what?
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25-DHCC or 1,25 DHCC
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Liver provides what to vitamin D?
|
two things:
1st cholesterol to skin to make 7-dehyrocholesterol 2nd 25-hydroxylation |
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What is the comercial name for a retinoic acid that is teratogenic?
|
isotretinoin
|
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When does vitamin K act?
|
it is a co-translational modification
it acts during translation |
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What causes vit. K deficiency? (drug)
|
1) phenylhydantoins during pregnancy
vit. k deficient baby 2) breast-fed newborns 3) fat malabsoprtion (bile duct occlusin) 4) prolong tx w/ antibiotics |
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What is seen in the lab for vit K def?
|
increase PT
factor II |
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What drug is a direct inhibitor of vit. K?
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warfarin and coumadin
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