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