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359 Cards in this Set

  • Front
  • Back
  • 3rd side (hint)
2) risk factor information is collected
3) retrospective
4) observational
What type of study am I?
Case-Control Study
(p. 62, First Aid)
You are considered a case of interest if you have the disease or condition...
DNA is wrapped __ times around the following ____ charged histone octamer proteins: ___,__,___,___. ___ serves as linker ("string")of the nucleosomes ("beads").
2 times
(First Aid p. 77)
once twice 2 times a lady wearing pearls. ONE of these things is not like the other. What is DNA's overall charge?
In mitosis, DNA becomes _____ to form chromosomes
(First Aid p. 77)
Big fat Chromosomes as opposed to wimpy chromatin
Euchromatin is ____ condensed because it is transriptionally _____.
less; active
(First Aid p. 77)
To transcribe, try to be open.
Heterochromatin is ____ condensed because it is transcriptionally ______
more; inactive
(First Aid p. 77)
You might curl up tight when you want to shut down.
Purines have ___ rings and include ___ and ___
2; adenine (A) and guanine (G)
(First Aid p. 77)
Pyrimidines have ___ ring and include __,___,____
1; Cytosine, Uracil, Thymine
Guanine has ____ functional group.
Bat shit STINKS, kind of like bad breath.
___is unique to DNA; whereas -___ is unique to RNA.
thymine; uracil
Unique functional group of thymine: ____
(First Aid p. 77)
THYmine = meTHYl
How can you make uracil from cytosine?
(First Aid p. 77)
Uracil is less lively than cytosine
AT bonds have ___ H bonds, making them ____ than GC bonds which have ___ H bonds.
2; weaker; 3
(First Aid p. 77)
Higher melting content of DNA is correlated with ___ GC content
(First Aid p. 77)
substituting 1 purine for another purine; or 1 pyrimidine for another pyrimidne (same type of nucleic acid)
(First Aid p. 77)
Substituting a pyramidine for a purine or versa (conversion between nucleic acid types)
(First Aid p. 77)
What does it mean that the genetic code is UNAMBIGUOUS?
each codon specifies only 1 aa
(First Aid p. 77)
What does it mean that the genetic code is UNIVERSAL?
genetic code is same in all species (exceptions incl.mitochondria, archaebacteria, mycoplasma,some yeasts)
(First Aid p. 77)
What does it mean that the genetic code is DEGENERATE?
more than 1 codon may specify the same aa
(First Aid p. 77)
What happens in a silent mutation?
nothing; same aa; (often the mutation is in the 3rd position)(First Aid - p 78)
tRNA "wobble" refers to?
Refers to 3rd codon flexibility; tRNA will recognize it as same aa despite most changes in 3rd nucleotide; the first 2 positions in codon are more stringent (First Aid p. 78)
What happens in a missense mutation?
There is a change in aa
(First Aid p. 78)
What is a conservative missense mutation?
the new aa has similar chem structure - similar properties
(First Aid p. 78)
What happens in a Stop mutation?
the change in nucleotide encodes for an early stop codon and translation terminates.(First Aid p. 78)
stop the nonsense!
What happens in a framshift mutation?
all nucleotides downstream get misread (b/c of insertion or deletion); protein is usually truncated (First Aid p. 78)
Put these in order of best to worse: missense, stop, silent
3,1,2 (First Aid p. 78)
prokaryotes have ___ site(s) of replication; eukaryoctes have ___ site(s) of replication.
1; multiple (First Aid p. 78)
prokaryotes are simpler
1 strand that is being replicated is described as ___; the other is ____ and uses ____
leading; lagging; Okasaki fragments (First Aid p. 78)
What is the purpose of DNA topoisomerases?
they create nicks in the helix to relieve supercoils
(First Aid p. 78)
DNA polymerase III (in prokaryotes) has 2 activities. Name them.
1) 5'--> 3' synthesis; chain elongation at the 3' end until it reaches the primer of preceding fragment
2) proofreading w/ 3'--> 5' EXOnuclease (First Aid p. 78)
normally goes forward, but to get that mistake OUT, it has to go backward
What does PRIMASE do (in prokaryotes)?
It makes an RNA Primer on DNA template so DNA POL III can initiate replication? (First Aid p. 78)
What do you need before you paint a wall?
What is DNA polymerase I (in prokaryotes) job?
To EXCISE AND DEGRADE RNA PRIMER (that Primase lays down) with
5'-->3'EXOnuclease (First Aid p. 78)
get that FIRST thing OUT with DNA POL I!
What does DNA Ligase do?
Seals nicks (First Aid p. 78)
What is the job of single-stranded binding proteins (SSB)? (proks)
SSB's are proteins responsible for holding the replication fork of DNA open while polymerases read the templates.
Eukaryotic DNA replication has ____ origin(s) of replication. Replication begins at _______
multiple; consensus sequences of AT base pairs
(First Aid; p. 78)
What eukaryotic DNA POLs engage in repair?
beta and epsilon
(p. 404 Lippincotts Biochemistry)
oops, these POLs will make it all bettah.
What does eukaryotic DNA POL gamma do?
replicates mitochondrial DNA
(p. 404 Lippincotts Biochemistry)
gamma gimme energy
What does eukaryotic DNA POL alpha do?
Alpha, multisubunit, has primase activity and initiates DNA synthesis. (p. 404 Lippincotts Biochemistry)
ALPHA is the first and foremost eukyarotic DNA POL.
What is the DNA POL that elongates leading strands and Okasaki fragments (also has 3'-->5" exonuclease activity)?
Delta (p. 404 Lippincotts Biochemistry)
Take a long flight on...
5 Steps in ssDNA repair.
1) Glycosylase recognizes damaged base.
2) Endonuclease makes a break several bases 5' to mistake.
3) Exonuclease removes short stretch of nucleotides (w/error?)
4) DNA POL fills gap
5) DNA ligase seals strands together. (First Aid - p. 78)
Glick gets IN there and gets it OUT; she fills in the Police and it's all sealed up.
DNA repair defects:
1) associated w/X-rays
2) associated w/cross-linking agents
3) associated w/skin sensitivity to UV light
4) associated radiation
1) ataxia-telangectasia
2) Fanconi's anemia
3) xeroderma pigmentosum
4) Bloom's syndrome
uvr ABC mutations are inherited in ____ ___ fashion. This dz is called _____. Describe defect and consequences.
Autosomal dominant. Xeroderma Pigmentosum. Thymidine dimers, form when DNA exposed to UV light, cannot be repaired. This leads to dry skin, melanomas and other cancers.
Describe the 3 types of RNA.
mRNA - messenger RNA (which are massive); intermed between DNA->protein
rRNA - ribsomal RNA (which are everywhere, rampant)- component of ribosomes (have catalytic activity)
tRNA - transfer RNA (which are tiny)- starts polypeptide chain, brings aa to growing chain, and terminates
DNA synthesized in ________ direction
5' --> 3'
(1st Aid; p. 79)
RNA synthesized in ______ direction
5' --> 3'
(1st Aid; p. 79)
energy source and target for nucleotide addition (in DNA synth)
energy source is the 5' triple phosphate of the incoming nucleotide. Target is 3'OH of the nascent chain. (1st Aid; p. 79)
Peptide bond
N to C
Eukaryotic rRNA is made by:
everything is main priority
Eukaryotic mRNA is made by:
RNA POL II (1st Aid; p. 79)
Eukaryotic tRNA is made by:
RNA POL III (1st Aid; p. 79)
RNA POLs don't engage in/engage in proofreading.
DON'T engage in (1st Aid; p. 79)
Prokaryotic mRNA is made by:
Prokaryotic RNA POL, same one that makes rRNA and tRNA.
(1st Aid; p. 79)
Eukaryotic RNA POL II does something special (_____) at promoters and is inhibited by ____, found in _____
opens DNA (AT-rich upstream sequences - TATA and CAAT); alpha-amanitin; death cap mushrooms
mRNA which is usually the start codon. In prokaryotes, there's something special about it _____.
AUG (occ GUG); Start AUG encodes for f-Met
(1st Aid; p. 79)
What are the stop codons?
(1st Aid; p. 79)
go away, are away, are gone
promoter = ?
upstream of gene locus where RNA POL and other TF's bind
(1st Aid; p. 80)
enhancer = ?
DNA stretch that alters level of gene expression; can be located close to, far away from, or within intron of gene it regulates. TF's bind to enhancer.
operator = ?
In proks - site where repressors (Negative regulators) bind
exons = ?
actual genetic info that encodes for protein
(1st Aid; p. 80)
introns = ?
intervening noncoding DNA segments (1st Aid; p. 80)
mRNA splicing process
lariat shaped intermediates form in primary transcripts (called hnRNA). snRNPs bind to the trxt and form spliceosomes to precisely splice out intron. This is a eukaryotic process.
(1st Aid; p. 80)
RNA processing
Eukaryotic process:
1) Capping 5' (7-methyl-G)
2) Polyadenylation 3' (200 As)
3) Intron splicing
When these 3 processes done, trxt called mRNA
(1st Aid; p. 80)
Describe 5 features of tRNA structure
1) 75-90 nucleotides (tiny)
2) cloverleaf shape
3) anticodon is at opposite end of 5' and 3' ends.
4) CCA at 3' end to which aa is bound
5) lots of chem modified bases
tRNA charging aspects
aminoacyl tRNA synthetase hydrolyzes 1 ATP per 1 aa bound and for making peptide bond; aa binding is analyzed to make sure correct. If incorrect, synthetase will hydrolyze bond. (1st Aid; p. 80)
What's wrong with a mischarged tRNA?
it reads the usual codon but inserts the wrong aa
Protein synth initiation
1) Met in the P site of ribosome
2) incoming aa sits at A site and hydrolyzes Met's bond to its tRNA to form a dipeptide
3) dipeptide is moved b/c ribosome moves toward 3' direction of mRNA. Dipeptide in A site goes to P site. Uncharged tRNA goes from P site to E site. (1st Aid; p. 80)
_____ endoplasmic reticulum is the site of synthesis of ____ proteins. These proteins have _______ added to them here in this organelle, too. Cells that secrete alot of protein, such as ______ of the small intestine and ____ of the immune system are very rich in ER.
1) Rough
2) secretory (to be exported)
3) N-linked oligosaccharides
4) (mucus-producing) goblet cells
5) (Ab-secreting) plasma cells
What are Nissl bodies and where are they found and not found? What does Nissl do?
RER (that is stained) - found on neuron BUT NOT on axon or axon hillock. Nissl (i.e., the RER) makes enzymes like ChAT and peptide NT's (1st Aid. p. 83)
A bird can't nestle in a tree if there's an axe around...
Smooth ER does 2 things. Name 'em.
1) Steroids synthesized
2) Detoxifying of drugs/poisons
(1st Aid. p. 83)
think both Barry Bonds and Darryl Strawberry! Not so smooth...
Name 2 roles for Golgi apparatus
1) Distributes proteins & lipids from ER to plasma membrane, lysosomes, secretory vesicles
2) Adds and modifies sugars on proteins
(1st Aid; p. 83)
Think Santa claus (spreads sweetness!)
What often happens to asparagine in the Golgi apparatus?
This aa's N-oligosaccharides (from ER?) get modified(1st Aid; p. 83)
What happens to some serines in the Golgi apparatus?
O-oligosaccharide residues get added.
(1st Aid; p. 83)
What happens to some threonines in the Golgi apparatus?
O-oligosaccharide residues get added.(1st Aid; p. 83)
What kind of assembly takes place in the Golgi Apparatus?
proteoglycans from proteoglycan core proteins(1st Aid; p. 83)
discuss proteoglycans...where they're found. What properties they give structures.
High MW complex of protein & polysaccharide, characteristic of struct tissues of vertebrates, such as BONE and CARTILAGE, but also present on CELL SURFACES.
Important in determining VISCOELASTIC properties of joints and other structures subject to mechanical deformation. Glycosaminoglycans (GAGs), the polysaccharide units in proteoglycans, are polymers of acidic disaccharides containing derivatives of the amino sugars glucosamine or galactosamine. (
What happens to proteoglycan sugars in Golgi apparatus? Where does this also happen?
The proteoglycan sugars get sulfated. Also some of the tyrosine do, too. (1st Aid, p. 83)
What targets proteins from the Golgi apparatus to the lysosome?
Mannose-6-Phosphate "tag" on the proteins to be targeted. (1st Aid; p.83)
How is I-cell disease caused and what are its symptoms?
Failure to add Mannose-6-phosphate to proteins bound to lysosome. Instead, the get secreted from cell. Sx-coarse facial features and restricted joint movement. (1st Aid; p. 83)
Where are 3 places microtubules are found?
(1st Aid, p. 84)
Microtubules are used by neurons for ________?
slow axonal transport (1st Aid, p. 84)
What is microtubule's diameter, length, growth characteristics?
diameter = 24 nm
length varies
slow growth, quick collapse
(1st Aid; p. 84)
What are microtubule's subunits and how are they put together?
helical array of alpha and beta tubulin heterodimers, each dimer is bound to 2 GTP. There are 13 heterodimers per microtubule circumference. (1st Aid; p. 84)
What is Chediak-Higashi Syndrome?
reduced phagocytosis because of defect in microtubule polymerization (1st Aid, p 84)
What do anti-helminthic mebendazole and albendazole, anti-breast cancer Taxol, antifungal Griseofulvin, anti-cancer vincristine/vinblastine and anti-gout colchicine have in common?
They all act on microtubules!
(1st Aid, p 84)
Describe cilia structure.
9+2 arrangement of microtubules (1st Aid, p 84)
How is cilia made motile?
2 ATPases:
Dynein - retrograde movement
Kinesin- anterograde movement
Dynein connects periph 9 doublets and causes cilia to bend by differential sliding of doublets (1st Aid, p 84)
What happens when there's a dynein arm defect and what is this called?
cilia are immotile; Kartageners syndrome (1st Aid, p 84)
Name 3 processes that take place in both the mitochondria and cytoplasm.
Heme synthesis
Urea cycle
(1st Aid, p 87)
We need a HUG
What do glycolysis, fatty acid synthesis, steroid synthesis (SER), protein synthesis (RER), and HMP shunt metabolic processes have in common?
They all take place in the cytoplasm
(1st Aid, p 87)
Name 3 metabolic processes that exclusively take place in the mitochondria?
Fatty acid (B-) oxidation
Krebs cycle
acetyl-CoA production
(1st Aid, p 87)
Name this condition & what it's caused by:
1) hyperextensible skin
2) bleeding/bruising easily
3) hypermobile joints
4) associated w/berry aneurysms
Ehlers-Danlos syndrome; faulty collagen synthesis; 10 types; inheritence varies (1st Aid, p 86)
I am an autosomal dominant dz w/1:10,000 incidence, caused by many genetic defects (esp collagen synth) - signs:
1) multiple fractures from min trauma (during birth processes possible)
2) blue sclerae
3) hearing loss
4) dental probs/lack of dentition
I'm often confused for child abuse.
one type ___ is fatal in utero or in neonatal period
I am osteogenesis imperfecta. Type II is fatal.
(1st Aid, p 86)
Why is the sclera blue in Osteogenesis imperfecta?
CT is translucent over the choroid
(1st Aid, p 86)
vimentin is an IHC for ______
connective tissue(1st Aid, p 86)
_____ is the IHC stain for neurons
(1st Aid, p 86)
Desmin is the IHC for _____
muscle (1st Aid, p 86)
Glial fibrillary acid proteins (GFAP) is an IHC stain for _____
neuroglia (1st Aid, p 86)
________ is a commonly used IHC stain for epithelial cells.
cytokeratin (1st Aid, p 86)
Plasma membrane composition (name 5)
1) Cholesterol (~50%)
2) Phospholipids (~50%)
3) Sphingolipids
4) Glycolipids
5) Proteins
(1st Aid, p 84)
Higher melting temperature is conferred by there being _______ and/or _________ in the plasma membrane.
1) higher cholesterol level
2) long saturated fatty acid content
(1st Aid, p 84)
Lecithin (Phosphatidylcholine) is a component of 4 entities and a component of a 1 enzyme. Name 'em.
1) RBC membrane
2) Myelin
3) Bile
4) Surfactant
lecithin-cholesterol acyltransferase (LCAT)
(1st Aid, p 84)
2 membranes, 2 liquids for the components
Na+-K+ ATPase can be found in ____ of the cell. The ATP site is on the ____ side. Each cycle, the pump is Phosphorylated and #____ go out of the cell and # _____ come back in.
plasma membrane;
3 Na+
2 K+
(1st Aid, p 84)
Oubain inhibits the Na-K ATPase by _______
binding to the K+ site
(1st Aid, p 84)
oubain Kills the pump
Oubain inhibits the Na-K ATPase by _______
binding to the K+ site
(1st Aid, p 84)
oubain Kills the pump
How do cardiac glycosides (digoxin, digitoxin) interact with Na-K ATPase
they inhibit the Na-K ATPase, causing an increase in cardiac contractility
5 receptor types activate the Gq GTP-linked protein
H1, M1, V1, alpha1, M3
(1st Aid, p 85)
odds are a member of royalty is very GQ
Gq interacts with Phospholipase C which cleaves lipids to _____, which is cleaved into IP3 (which ____ )and ____ (which activates Protein Kinase C).
raises intracellular calcium
(1st Aid, p 85)
These 5 receptor subtypes use the Gs GTP-linked protein
B1, D1, H2, beta2, V2
(1st Aid, p 85)
If you look for stimulation with a dirty BD, you may very well get Hep B.
These 3 receptor subtypes use the Gi GTP-linked protein
M2, alpha2, D2
(1st Aid, p 85)
If you stifle (inhibit) someone, they'll get MAD.
Gs activates and Gi inhibits _______ which generates ____ from ATP, thereby activating ____
Adenylate Cyclase
Protein Kinase A
(1st Aid, p 85)
The most abundant protein in the human body is ________
(1st Aid, p 85)
Collagen's function:
organize and strengthen ECM
(1st Aid, p 85)
Name 7 entities composed of type 1 collagen
BONE, Tendon,
Skin, Dentin,
late wound repair
(1st Aid, p 85)
bONE, tendONE, Sk1n, Dent1n, First for fascia, cornea-1st interface for eye,
Name 3 entities made of type II collagen
cartilage (incl hyaline)
vitreous body
nucleus pulposus
(1st Aid, p 85)
2 things are 2 words
Name 5 entities made of type III collagen which is also called ______
1) skin
2) blood vessels
3) fetal tissue
4) uterus
5) granulation tissue
(1st Aid, p 85)
4 of the 5 coll III are blood-Y except for Skin, the non-bloody reticulin
Name 2 entities made of Collagen type IV
basal lamina or basement membrane (1st Aid, p 85)
4 is underneath the floor (BM)
Name the entity that is made of Collagen type X.
Epiphyseal Plate (1st Aid, p 85)
Collagen alpha chains are known as _____ are translated on RER and are made up of (3 or 4):
Gly-X-Y aa sequence;
X and Y are proline, hydroxyproline, hydroxylysine
(1st Aid, p 85)
After translation, in the ER, lysine and proline residues are _______ which requires _____. If something goes awry with this process, ______ is the result
Vitamin C
(1st Aid, p 85)
In Golgi, glycosylation of pro-alpha-chain ____ residues results in the formation of _____ (which is a _____ of 3 collagen alpha chains)
triple helix (1st Aid, p 85)
After _______ in the Golgi, procollagen molecules are ______
glycosylation, exocytosed into extracellular space.
(1st Aid, p 85)
Procollagen is transformed into tropocollagen by ______ which cleave terminal regions of procollagen. The tropocollagen is rendered _____. Unlike earlier steps in collagen synthesis, this process occurs _____
Procollagen peptidases
Outside fibroblasts(1st Aid, p 85)
_______ links tropocollagen by covalent lysine-hydroxylysine cross-links to make _____
Lysyl oxidase
Collagen fibrils
(1st Aid, p 85)
Name 4 components of ATP
base = adenine
sugar = ribose
3 phosphoryls
2 phosphoanhydride bonds
(1st Aid, p 88)
base, sugar, etc.
ATP's phosphoanhydride bond energy = ?
7 kcal/mol (1st Aid, p 88)
Vital role for ATP
ATP hydrolysis can be coupled to energetically unfavorable reactions. (1st Aid, p 88)
ATP --> cAMP
adenylate cyclase
(1st Aid, p 88)
GTP --> cGMP
guanylate cyclase
(1st Aid, p 88)
Glutamate --> GABA
Glutamate decarboxylase + vitamin B6
(1st Aid, p 88)
Choline --> ACh
Choline acetyltransferase (ChAT)
(1st Aid, p 88)
arachidonate --> Prostaglandins, thromboxanes, leukotrienes
cyclooxygenase/lipooxygenase(1st Aid, p 88)
fructose 6-P --> fructose 1,6 bisphosphate
Phosphofructokinase (PFK), rate limiting step of glycolysis (1st Aid, p 88)
start putting those fried chicken calories away (en francais-style!)
1,3 BPG --> 2,3 BPG
bisphosphoglycerate mutase(1st Aid, p 88)
NAD+ is generally used in _____ processes.
(1st Aid, p 88)
NADPH is generally used in ______ processes. Produced via _____, it is also used in _____ and _____.
HMP Shunt
respiratory burst
P450 pathway
(1st Aid, p 88)
S-adenosyl methionine's composition, job, and requirements
= methionine + ATP. SAM = methyl donor to many different acceptors (e.g., in synth of phosphocreatine, high energy P for m ATP production). Vitamin B12 is required to regenerate methionine and thus SAM.
(1st Aid, p 88)
fructose 6-P --> fructose 1,6 bisphosphate
Phosphofructokinase (PFK), rate limiting step of glycolysis (1st Aid, p 88)
start putting those fried chicken calories away (en francais-style!)
1,3 BPG --> 2,3 BPG
bisphosphoglycerate mutase(1st Aid, p 88)
NAD+ is generally used in _____ processes.
(1st Aid, p 88)
NADPH is generally used in ______ processes. Produced via _____, it is also used in _____ and _____.
HMP Shunt
respiratory burst
P450 pathway
(1st Aid, p 88)
S-adenosyl methionine's composition, job, and requirements
= methionine + ATP. SAM = methyl donor to many different acceptors (e.g., in synth of phosphocreatine, high energy P for m ATP production). Vitamin B12 is required to regenerate methionine and thus SAM.
(1st Aid, p 88)
when does embryogenesis start to happen?
day 0 - same day as fertilization
(1st Aid, p 118)
What happens within the first week of pregnancy?
embryo implants (as a blastocyst) (1st Aid, p 118)
Roman numeral I
What happens within the first 2 weeks of pregnancy?
formation of the bilaminar disk (1st Aid, p 118)
di bi 2!
Bilaminar disk consists of ____ and ____ ( _____ )
epiblast, hypoblast (2 germ layers) (1st Aid, p 118)
What cavities have formed within the 1st 2 weeks of pregnancy?
yolk sac, amniotic cavity
(1st Aid, p 118)
At 2 weeks, offspring Are Eggs
What has happened to the placenta by the end of the 2nd week of pregnancy?
formation of 2 cell types: syncitiotrophoblast and cytotrophoblast. (1st Aid, p 118)
By the end of week 3 of pregnancy, what has happened?
1) Gastrulation, now called a gastrula, made of ecto-, meso- and endoderm
Beginning to form:
2) Primitive streak
3) Notochord
4) Neural plate
think 3 and 3 (and 3 is a backwards E)
day 2 offspring is called ____
zygote (1st Aid, p 118)
day 3 offspring is called ___
morula (1st Aid, p 118)
day 5 offspring is called ____
blastocyst(1st Aid, p 118)
What is occurring during weeks 3-8 of pregnancy?
Organogenesis! Neural tube is formed(1st Aid, p 118)
When does the heart begin beating in embryo?
week 4(1st Aid, p 118)
when do the embronic limb buds begin forming?
week 4(1st Aid, p 118)
What is significant about the pregnancy period 3-8 weeks?
embryo is extremely susceptible to teratogens(1st Aid, p 118)
epiblast is a precursor to _____, invaginates to form ____________
ectoderm; primitive streak
(1st Aid, p 118)
By what week does the offspring's genitalia have male/female characteristics?
week 10 (1st Aid, p 118)
Primitive streak cells give rise to _____ and _____
intraembryonic mesoderm; endoderm (1st Aid, p 118)
Ectoderm can be divided into 3 categories:
1) surface ectoderm
2) neuroectoderm
3) neural crest
(1st Aid, p 118)
What are the embryologic derivatives of surface ectoderm (4)?
Linings (epithelial)
LENS of eye
(1st Aid, p 118)
a glass of ALE will change your Lens
What are the embryologic derivatives of neuroectoderm (6)?
Pineal gland
Ependymal cells
CNS neurons
(1st Aid, p 118)
APE CO in the brain and the neurohypophysis
What are the embryologic derivatives of neural crest(14)?
Schwann cells
Pia & arachnoid mater

skull bones

Celiac ganglion

Chromaffin cells (adrenal medulla)
Enterochromaffin cells

Parafollicular (C) cells – thyroid
Laryngeal cartilage
(1st Aid, p 118)
b/c these neural elements are peripheral, they feel SAD and have 2 inner covers. Put a SOC in it (shut up). Chromaffin x 2. 2 C's of the throat. And MeCel-laneous.
What are the embryologic derivates of mesoderm (12)?

serous (peritoneal) linings
dura mater

adrenal cortex
urogenital structures

heart (Cardiovascular structures)
(1st Aid, p 118)
CMB; serious, hard cover; uro x3; HSBL;
What are the embryologic derivates of endoderm (6)?
Gut tube epithelium and derivatives:
thyroid follicular cells

(1st Aid, p 118)
2L, 2P, 2T
Notochord's role early in embryonic period...
Induces ectoderm to form neuroectoderm (neural plate) (1st Aid, p 118)
Notochord's postnatal derivative = ?
nucleus pulposus of intervertebral disc
(1st Aid, p 118)
Leading cause of mental retardation
fetal exposure to alcohol
(EtOH - fetal alcohol syndrome and other birth defects)
(1st Aid, p 118)
ACE inhibitors cause ______ in offspring if mother takes them while pregnant...
renal damage
(1st Aid, p 118)
Cocaine causes ____ and ______ in offspring if mother takes them while pregnant...
abnormal fetal development; addiction (1st Aid, p 118)
DES causes ______ in offspring if mother takes them while pregnant...
vaginal clear cell adenocarcinoma
(1st Aid, p 118)
Thalidomide causes ______ in offspring if mother takes them while pregnant...
limb defects ("flipper" limbs)
(1st Aid, p 118)
Name 3 tx's that lead to extremely high risk for multiple birth defects
Accutane (13-cis retinoic acid)
(1st Aid, p 118)
Don't WAX poetic about these during pregnancy.
Iodide deficiency in pregnancy leads to ____ (3) in offspring
(error in 1st Aid, p 118)
Tobacco can lead to ____ (3) if consumed during pregnancy.
Preterm Labor
Placental Problems
(1st Aid, p 118)
Not a good idea for PAP to smoke either...
What's so bad about having only 1 umbilical artery?
associated w/congenital and chromosomal abnormalities
(1st Aid, p 119)
What do the 2 umbilical arteries do?
Carries deoxygenated blood from fetal internal iliac aa's away from fetus to the placenta to get oxygenated
(1st Aid, p 119)
What does the umbical vein do?
Supplies oxygenated blood from placenta to fetus (1st Aid, p 119)
What does the allantoic duct do?
it's like a urethra; removes nitrogenous wastes from fetal bladder (1st Aid, p 119)
______________ protects umbilical vessels.
Whartan's jelly
(1st Aid, p 119)
Fetal hemoglobin is made up of 2 _ and 2 _ subunits whereas adult hemoglobin is made up of 2 _ and 2 _ subunits.
fetal - alpha; gamma
adult - alpha; beta
(1st Aid, p 120)
from weeks 6-30 in utero,hematopoiesis takes place in _____
(1st Aid, p 120)
Li - Bi, Di
from weeks 3-8 in utero,hematopoiesis takes place in _____
yolk sac
(1st Aid, p 120)
this is the Youngest blood starting place
from weeks 9-28 in utero,hematopoiesis takes place in _____
(1st Aid, p 120)
this is spot # thrEE.
from weeks 28 to term in utero,hematopoiesis takes place in _____
BONE marrow
(1st Aid, p 120)
fOurth is here.
Truncus arteriosus gives rise to _________ and ________
Ascending aorta; Pulmonary trunk(1st Aid, p 120)
Bulbus cordis gives rise to _________
SMOOTH parts of left and right ventricle
(1st Aid, p 120)
Primitive ventricle gives rise to _________
TRABECULATED left and right ventricle
(1st Aid, p 120)
Primitive atria gives rise to _________
trabeculated left and right atria
(1st Aid, p 120)
Left horn of sinus venosus gives rise to _________
coronary sinus
(1st Aid, p 120)
crown on evil KING LOUIS
The right horn of the sinus venosus gives rise to ______
SMOOTH part of right ventricle(1st Aid, p 120)
to make things Right twice, you'll need to smooth things out
The Superior Vena Cava arises from the _____ and _____
right COMMON cardinal vein;
right ANTERIOR cardinal vein
(1st Aid, p 120)
Blood in the umbilical vein is oxygenated/deoxygenated?
oxygenated - 80% saturated w/oxygen
(1st Aid, p 121)
1st aortic arches (R and L) form _____
maxillary arteries
(1st Aid p 118; Langman's Medical Embryology p 183)
2nd aortic arches (R and L) form ____ and ____
hyoid arteries and stapedial arteries
(1st Aid p 118; Langman's Medical Embryology p 183)
2nd arch 2 things - high step!
3rd aortic arches (R and L) forms ____ and ____
common carotid arteries; proximal part of internal carotid arteries; external carotid arteries (distal part of internal carotid arteries come from dorsal aorta)
(1st Aid p 118; Langman's Medical Embryology p 183)
3rd arch 3 things - P.E.C
5th aortic arches (R and L) forms ______
nothing (they either DO NOT form or they form incompletely and then regress)
(1st Aid p 118; Langman's Medical Embryology p 183)
6th left aortic arch forms _____
Left pulmonary artery and Ductus arteriosus (1st Aid p 118; Langman's Medical Embryology p 183)
DUCks don't mind being LEFT in the rain
6th right aortic arch forms _____
right pulmonary artery
(1st Aid p 118; Langman's Medical Embryology p 183)
4th left aortic arch forms _____
Aortic arch between
L CCA and L subclavian a.
(1st Aid p 118; Langman's Medical Embryology p 183)
what's left of 4 is to support 2 branches - 4 letters (L) CC and S.
4th right aortic arch forms _____
right subclavian artery - proximal part
distal portion and left subclavian artery comes from the 7th intersegmental a.
(1st Aid p 118; Langman's Medical Embryology p 183)
Adult remnants of development:
Ligamentum teres hepatis arises from _____
umbical vein
(1st Aid, p 121)
Often those who want to be HEP are quite VAIN.
Adult remnants of fetal development:
the nucleus pulposus of intervertebral disk arises from ________
the notochord
(1st Aid, p 121)
Adult remnants of fetal development:
Medial umbilical ligaments arise from ________
umbilical arteries
(1st Aid, p 121)
plural umbilical (fetus) --> plural umblical (adult)
Adult remnants of fetal development:
Ligamentum arteriosum arises from ________
the ductus arteriosus
(1st Aid, p 121)
1 Art to another Art
Adult remnants of fetal development:
Ligamentum venosum arises from ________
the ductus venosus
(1st Aid, p 121)
It's a ven-ven situation
Adult remnants of fetal development:
Fossa ovalis arises from ________
the foramen ovale
(1st Aid, p 121)
Adult remnants of fetal development: the median umbilical ligament arises from ________
the urachus, the distal remaining tube of the allantois (functions to remove wastes from fetus (fetal bladder))
(1st Aid; p 121; Medical Embryology; 203, 204, 236, 238)
urachal fistula results if ______ persists
lumen of intraembryonic portion of allantois

(Langman's Medical Embryology pp 238-239)
fistula - full allantois
urachal cyst results if ______ persists
local area of allantois (secretory activity of lining --> cystic dilation)

(Langman's Medical Embryology pp 238-239)
cyst - small area
urachal sinus results if ______ persists
lumen of upper part of allantois

(Langman's Medical Embryology pp 238-239)
Branchial ____ come from ectoderm; Branchial _____ come from mesoderm and _______; Branchial ____ come from endoderm.
Clefts; Arches; Neural Crest; Pouches
(1st Aid, p 122)
CAP covers from the outside, in.
Branchial arch 1 derivatives are supplied by CN ___;
Branchial arch 2 derivatives are supplied by CN ____;
Branchial arch 3 derivatives are supplied by CN ____; Branchial arch 4 derivatives are supplied by CN _______;
Branchial arch 5 derivatives are supplied by CN _______
Branchial arch 6 derivatives are supplied by CN _______
1-V2 (Trigeminal n - maxillary branch) and V3 (Trigeminal n - mandibular branch)
2-VII (Facial n)
3-IX (Glossopharyngeal n)
4-X (Vagus n- superior laryngeal branch)
6-X (Vagus n-recurrent laryngeal branch)
(1st Aid, p 122)
#'s both go up
Anterior 2/3 of tongue:
Taste innervation: ____
Sensation innervation: ____
Motor innervation: ___
Branchial arch: ____
Taste: CN VII
Sensation: CN V3
Motor: CN VII
B.A.: #1
(1st Aid; p 123)
Posterior 1/3 of tongue:
Taste innervation: ____
Sensation innervation: ____
Motor innervation: ___
Branchial arch: _____
Taste: CN IX
Sensation: CN IX
Motor: CN VII
B.A.: #3,4
(1st Aid; p 123)
Extreme posterior of tongue;
taste innervation: ____
sensation innervation: ____
motor innervation: ___
Taste: CN X
Sensation: CN X
Motor: CN VII
B.A.: #3,4
(1st Aid; p 123)
The nucleus for taste in the medulla is called _________ and is made up of nuclei of CN's __________
solitary nucleus; VII, IX, X
Name the bones/cartilage that form from Meckel's cartilage which come from which Branchial Arch?
Branchial Arch 1;
Sphenomandibular Ligament
(1st Aid; p 122)
#1 w/ a rocket (M-M-I-SL)
jaws and ears
Name the muscles that form from Branchial Arch 1.
Muscles of Mastication:
Tensors- tympani,veli palatini
Pterygoids-Medial & Lateral
Digastric - anterior belly
Anterior 2/3 of tongue
(1st Aid; p 122)
MASS and time (TEMPO)
it's LAME and pTERrible to watch T.V. when you're TENSe.

MY BELLY sticks out(ANTERIOR) when I DIG into my food too much.
Name the bones/cartilage that form from Reichert's cartilage which come from which Branchial Arch?
Hyoid (lesser horn of), Stylohyoid Ligament,
Styloid process
(1st Aid; p 122)
Name the muscles of the branchial arch #2 derivatives.
Mm's of facial expression, Stylohyoid,
posterior belly of digastric
(1st Aid; p 122)
STAy *smile*, the POST DIGS your STYLe
The cartilage derivative for Branchial arch #3 _____
greater horn of the hyoid
(1st Aid, p 122)
great - horny & high
The muscle that arises from Branchial arch #3
(1st Aid p 122)
The cartilage derivatives for Branchial arches 4 and 6 (5)
(1st Aid, p 122)
Muscles that are derived from the 4th branchial arch
Levator veli palatini
(Most) pharyngeal constrictors
(1st Aid, p 122)
For crying out loud!
Muscles that are derived from the 6th branchial arch
All intrinsic mm's of larynx
(except cricothyroid)
(1st Aid, p 122)
6th arch is LAst. NOT for crying out loud!
1st branchial cleft develops into ______
external auditory meatus
(1st Aid, p 123)
cleft is ectoderm - think external
Branchial clefts 2,3,4 develop into ________
TEMPORARY cervical sinuses which are obliterated by 2nd arch mesenchymal proliferation(1st Aid, p 123)
2,3,4 - now you see, now no more...
If branchial clefts 2,3,4 don't disappear, it's called persistent cervical sinus which can lead to __________
branchial cyst in the neck
(1st Aid, p 123)
A branchy would make me cranky - a real pain in the ___!
Ear development- bones: Malleus is from the ____ Branchial arch, Incus is from the ____ Branchial arch, Stapes is from the ____ Branchial arch
1st; 1st; 2nd
(1st Aid, p 123)
Ear Development - muscles:
Tensor Tympani
Tensor tympani: V3 - 1st arch
Stapedius: VII - 2nd arch
(1st Aid, p 123)
tensor tyMpani - Malleus
Stapedius - Stapes
1st branchial membrane (junction between clefts and pouches) forms
eardrum and Eustachian tube
(1st Aid, p 123)
1st branchial pouch develops into:
middle ear cavity
eustachian tube
mastoid air cells
(endoderm lined structures of ear)
(1st Aid, p 123)
2nd branchial pouch develops into:
palatine tonsil
(epithelial lining)
(1st Aid, p 123)
3rd branchial pouch develops into:
thyroid (ventral wings)
inferior parathyroids
(dorsal wings)
(1st Aid, p 123)
TV - 1
ID - 2
3rd pouch forms 3 structures
4th branchial pouch develops into:
superior parathyroids
(1st Aid, p 123)
If 3rd and 4th pouches form aberrantly, _______ is the result. Describe what pathophysiology results.
DiGeorge Syndrome;
thymic aplasia-->T-cell deficiency;
parathyroids don't develop--> hypocalcemia
(1st Aid, p 123)
Diaphragm is made up of these 4 parts:
Septum transversum
Pleuroperitoneal folds
Body wall
Dorsal mesentery of esophagus
(1st Aid, p 124)
If diaphragm does not develop completely, what happens?
hiatal hernia - abdominal contents herniate into the thorax
(1st Aid, p 124)
the remnants of the thyroglossal duct (by which the thyroid descends into the neck) is _______ and _______
foramen cecum of the tongue
pyramidal lobe of of thyroid
(1st Aid, p 124)
Cleft lip is a failure of fusion between ____ and ____. (2)
Cleft palate is a failure of fusion between _____,_____, and/or _____ (3)
CL: maxillary & medial
nasal processes
CP: lateral & median palatine processes; nasal septum
(1st Aid, p 124)
CL: 2 M's
Cleft lip is a result of formation of ___________.
Cleft palate is a result of formation of ___________.
primary palate
secondary palate
(1st Aid, p 124)
pancreas forms from the _____
(1st Aid; p 124)
Spleen forms from _______ but the splenic artery is from
dorsal mesentery; foregut
(1st Aid; p 124)
Ventral pancreatic bud forms (3):
Head (pancreatic),
Uncinate process (lower head)
Main Pancreatic duct
(1st Aid; p 124)
Ventral - HUM
Dorsal pancreatic bud forms (4):
Accessory pancreatic duct
(1st Aid; p 124)
When the ventral and dorsal pancreatic buds form abnormally, ________ results. Describe this congenital anomaly.
Annular pancreas; it encircles and potentially narrows the duodenum.
(1st Aid; p 124)
Mesonephric ducts are also called __________ and give rise to _____ genital ducts.
Wolffian ducts; male
(1st Aid, p 125)
Paramesonephric ducts are also called _________ and give rise to _____ genital ducts.
Mullerian; female
(1st Aid, p 125)
Mesonephric/Wolffian duct forms (4):
Seminal vesicles
Ejaculatory Duct
Ductus deferens
(1st Aid, p 125)
C'mon 2 ducks
Paramesonephric/Mullerian ducts forms (3)
Fallopian tubes
Vagina (part)
(1st Aid, p 125)
all but hold the eggs and the edge
What does Mullerian Inhibiting Substance do?
MIS is secreted by the testes
MIS suppresses the formation of paramesonephric/mullerian ducts in males
(1st Aid, p 125)
If the female genital tract is exposed to high levels of androgens, what can happen?
Mesonephric/Wolffian ducts can develop
(1st Aid, p 125)
Embryological structure that become "male" are exposed to _____ and those that become female are exposed to _____
dihydrotestosterone; estrogen
(1st Aid, p 125)
In the female, the genital tubercle becomes ______
glans clitoris
(1st Aid, p 125)
pump up the tube
In the male, the genital tubercle becomes ______
glans penis
(1st Aid, p 125)
pump up the tube
In the female, the urogenital sinus becomes ______ (3)
vestibular bulbs
greater vestibular glands
(of Bartholin)
urethral and paraurethral
glands (of Skene)
(1st Aid, p 125)
light in the hallway
for the 2 gents from 2 glands
In the male, the urogenital sinus becomes ______
corpus spongiosum
bulbourethral glands
(of Cowper)
prostate glands
(1st Aid, p 125)
sponge up the wetness from 2 glands
In the female, the urogenital folds become _____
labia minora (1st Aid, p 125)
folds are smaller than swellings
In the male, the urogenital folds become _____
ventral shaft of the penis (penile urethra)
(1st Aid, p 125)
folds fuse
In the female, the labioscrotal swelling becomes the ________
labia majora(1st Aid, p 125)
In the male, the labioscrotal swelling becomes the ________
scrotum(1st Aid, p 125)
monozygotic twins result from (3 ways):
Give # of chorion, amnion, placenta in each situation.
1)splitting of zygote at 2 cell stage (2 placentas, 2 amnions, 2 chorions)
2) inner cell mass splitting (1 placenta, 1 chorion, 2 amnions)
3) inner cell mass splitting at bilaminar germ disc stage; just before primitive streak stage (1 placenta, 1 amnion, 1 chorion)
(Langman's Medical Embryology - pp 105, 106)
If you're late, you'll have to share!
dizygotic twins result from:
2 eggs being shed and 2 sperm fertilizing them
(Langman's medical embryology p 104; 1st Aid, p 119)
In dizygotic twins, there is/are __ amniotic sac(s), ___ placenta(s); ___ chorion(s)
2,2,2 (sometimes the placentas and chorions can fuse)
(Langman's medical embryology p 104; 1st Aid, p 119)
di = all 2!!!
Ductus Venosus is a fetal circulation shunt that allows blood to bypass _____
the liver
(Langman's medical embryology
p 189)
Foramen ovale shunts fetal blood from ________
right to left atrium
(Langman's medical embryology
p 189)
Ductus arteriosus function
shunt for deoxygenated blood from SVC --> RA --> RV ---> descending aorta --> umbilical aa's;
some blood from SVC goes into pulm aa's
(M.E. 189-192; F.A. 121)
Changes in blood circulation after birth (3):
1) With 1st breath, pulmonary vascular resistance goes down; LA pressure rises relative to RA pressure
2) FO closes
3) Ductus arteriosus closes d/t higher oxygen leading to lower levels of prostaglandins
(1st Aid; p 121)
Patent Ductus Arteriosus (PDA)closes with _____; stays open with ______ .
indomethacin; prostaglandins
(1st Aid; p 121)
What does aldolase B deficiency cause? How is it caused?
fructose intolerance; recessive mode of heritability
______, caused by aldolase B deficiency, is brought about by accumulation of ________ which ______ available phosphate which inhibits glycogenolysis and ________.
Fructose intolerance
Sx of fructose intolerance include: (4)
1) hypoglycemia
2) jaundice
3) cirrhosis
4) vomiting
Tx for fructose intolerance:
decrease in fructose and sucrose (glucose and fructose) intake
(1st Aid; p 93)
A fructokinase defect causes ____:
essential fructosuria
(1st Aid; p 93)
essential fructosuria presents as _______
fructose in urine and blood; it is an asx'ic and benign (1st Aid; p 93)
Sx of lactase deficiency
osmotic diarrhea
(1st Aid; p 93)
Which groups more frequently develop lactose intolerance?
(1st Aid; p 93)
Essential aa's (8; 10 including those for growth)
for growth -
Arginine, Histidine
(1st Aid; p. 93)
What does galactose-1-phosphate uridyltransferase deficiency cause?
(1st Aid; p. 93)
What are the signs of galactosemia (3)?
mental retardation
(1st Aid; p. 93)
What is the pathogenesis of galactosemia?
galactose-1-phosphate uridyltransferase deficiency leads to a build up of toxins (esp galactitol).
(1st Aid; p. 93)
Galactokinase deficiency causes ______
galactosemia and galactosuria
galactitol can accumulate w/galactose in the diet.
(1st Aid; p. 93)
Tx for galactosemia from galactose-1-phosphate uridyltransferase deficiency?
exclude lactose and galactose from diet
(1st Aid; p. 93)
Leu and Lys are ________ essential aa's
(1st Aid; p. 93)
K and L next to each other
Ile, Phe, Trp are _______ essential aa's
(1st Aid; p. 93)
Met, Thr, Val, Arg, His are _______ essential aa's
(1st Aid; p. 93)
(HA) MTV is sweet
At pH 7.4:
_____ and _____ are negatively charged.
_______ and _____ are positively charged.
_____ is neutral.
Aspartate; Glutamate;
Arginine; Lysine;
(1st Aid; p. 94)
The most basic aa is:
(1st Aid; p. 94)
2 aa's widespread in histones:
Arginine and Lysine
(1st Aid; p. 94)
2 aa's with an extra -NH3 functional group
Arginine and Lysine
(1st Aid; p. 94)
Urea cycle takes place in _____; with the ________ step taking place in the ________, the rest of the steps occurring in _____.
the liver
carbamoyl phosphate
(1st Aid; p. 94)
Purpose of urea cycle:
degrade aa's into amino groups, excrete excess nitrogen in the urine (90% of it)
(1st Aid; p. 94)
Steps in the urea cycle:
ORNITHINE combines with CARBAMOYL Phosphate (in mito). The CITRULLINE that forms is transported into the cytosol. Citrulline combines with ASPARTATE to form ARGINOSUCCINATE. FUMARATE is removed to form ARGININE. Arginine is hydrated, to form Ornithine - UREA is removed...
(1st Aid; p. 94)
Ordinarily, Careless Crappers Are Also Frivolous About Urination
Phenylalanine forms the aa _______ which can be converted to ______
tyrosine; thyroxine
(1st Aid; p. 95)
The aa, tyrosine, forms ____ which can form ______ and ______
dopa--> melanin and dopamine
(1st Aid; p. 95)
Dopamine forms _____ which can form ______
norepinephrine --> epinephrine
(1st Aid; p. 95)
Tryptophan forms 3 cofactors/neurotransmitters:
Niacin, Serotonin, Melatonin
(1st Aid; p. 95)
Niacin forms the following electron carrier (2):
(1st Aid; p. 95)
Histamine comes from this aa, __________
(1st Aid; p. 95)
Heme is made up of ______ which is made of the aa _____
porphyrin; glycine
(1st Aid; p. 95)
Arginine is the source of (3):
nitric oxide
(1st Aid; p. 95)
GABA is from this aa, _______:
(1st Aid; p. 95)
What is the pathogenesis of phenylketonuria (PKU)?
deficiency of phenylalanine hydroxylase (or cofactor, tetrahydrobiopterin) leads to a build-up of phenylalanine, phenylketones are excreted in urine. Tyrosine becomes deficient (needed as an essential aa). Autosomal recessive inheritance (1:10K); screened for at birth
(1st Aid; p. 95)
disorder of aromatic aa metabolism --> musty body odor
PKU signs (5):
mental retardation
growth retardation
fair skin
musty body odor
(1st Aid; p. 95)
Name 3 Phenylketones:
(1st Aid; p. 95)
Tx for PKU:
do not consume phenylalanine (in aspartame(Nutrasweet)); consume lots of tyrosine
(1st Aid; p. 95)
How does alkaptonuria result?
Deficiency of homogentisic acid oxidase in tyrosine's degradative pathway. (1st Aid; p. 95)
Signs of alkaptonuria:
Black urine; dark CT; Benign - but debilitating arthralgias may result
(1st Aid; p 95)
How can albinism result?
1) congenital deficiency of tyrosinase
2) defective tyrosine transporters
3) can be from lack of migration of neural crest cells
(1st Aid; p 95)
What is the pathogenesis of albinism?
Low melanin (d/t deficiency of tyrosinase converting tyrosine to melanin or not enough tyrosine being transported and converted to melanin)
(1st Aid; p 95)
Albinism, lack of melanin, raises the risk of _______
skin cancer
(1st Aid; p 95)
excess homocysteine in the urine (homocystinuria) results from 3 possible mechanisms:
1) cystathione synthase deficiency
2) decreased affinity of cystathione synthase for vitamin B6 (pyridoxal phosphate)
3) methionine synthase deficiency
(1st Aid; p 96)
Signs of homocystinuria (7):
1) cysteine becomes essential
2) mental retardation
3) osteoporosis
4) tall stature
5) kyphosis
6) lens subluxation (down&in)
7) atherosclerosis(stroke&MI)
(1st Aid; p 96)
The pathway from methionine to cysteine:
Methionine -->Homocysteine-->
1 2
Cystathionine --> Cysteine

1)methionine synthase
w/SAM+ B12 (which converts
methylated-THF to THF)
2)cystathionine synthase w/B6
(1st Aid; p 96)
How does cystinuria result and what is a consequence of it?
common inherited defect of renal tubular aa transporters for
Cystine, Ornithine,
Lysine, Arginine
If excess Cystine in urine (not reabsorbed) --> ppt'n of cystine kidney stones
(1st Aid; p 96)
move the COLA
Tx of cystinuria:
acetazolamide to alkalinize the urine (1st Aid; p 96)
How does Maple Syrup Urine Disease result?
Low amounts of alpha-ketoacid dehydrogenase --> high levels of alpha-ketoacids in blood (esp Leu). Branched aa's are not degraded (Isoleucine, Leucine, Valine)
(1st Aid; p 96)
I Love VT
Signs of Maple Syrup Urine Disease (4):
urine smells like maple syrup
CNS defects
mental retardation
(1st Aid; p 96)
Severe Combined Immunodeficiency (SCID) is caused by _______
Adenosine Deaminase (ADA) Deficiency prevents adenosine from being deaminated to inosine. Excess dATP causes feedback inhibition of ribonucleotide reductase. DNA synthesis is prevented--> lymphocyte count goes down.
(1st Aid; p 97)
Lesch-Nyhan syndrome is caused by:
HGPRTase deficiency so hypoxanthine is not converted to inosine monophosphate (IMP) and guanine is not converted to guanine monophosphate (GMP).
Guanine and hypoxanthine buildup and converted to xanthine which is converted to uric acid by Xanthine oxidase. UA builds up. X-linked recessive transmission.
(1st Aid; p 97)
LNS - lacks nucleotide salvage (pathway)
Lesch-Nyhan syndrome signs(6):
mental retardation
(1st Aid; p 97)
Insulin is made in ______ and inhibits ______ production of ______.
pancreas beta cells; alpha cells; glucagon
(1st Aid; p 98)
GLUT2 receptors are found on _____ and GLUT 4 receptors are found on _______
Beta cells; muscle and fat cells
(1st Aid; p 98)
Insulin is required for ______
uptake of glucose in skeletal muscle and adipose cells
(1st Aid; p 98)
These tissues don't need insulin for glucose uptake (6):
Brain, RBCs, Intestine, Cornea, Kidney, Liver
(1st Aid; p 98)
Brick L
Insulin has the following anabolic effects (5):
1) increases glucose transport
2) increases glycogen synthesis and storage
3) increases triglyceride synthesis and storage
4) increases sodium retention (kidneys)
5) increase protein synthesis (muscles)
(1st Aid; p 98)
Serum C-peptide tests ______
body's production of insulin from beta cells; C-peptide is the cleavage product that results when proinsulin is converted to active insulin. Exogenous insulin does not affect C-peptide levels.
(1st Aid; p 98)
Glucagon _______ enzymes, turning ____ glycogen synthase and phosphorylase ____.
(1st Aid; p 98)
Insulin _______ enzymes, turning ____ glycogen synthase and phosphorylase ____.
(1st Aid; p 98)
Main problem in glycogen storage diseases ; ___ types
abnormal glycogen metabolism-accumulation of glycogen within cells; 12
(1st Aid; p 98)
very poor carbohydrate metabolism
Von Gierke's disease is type ____ glycogen storage disease; ______ is the enzyme that is deficient.
I; glucose-6-phosphatase
(1st Aid; p 98)
Pompe's disease is type ____ glycogen storage disease; ______ is the enzyme that is deficient.
II; (lysosomal) alpha 1,4 glucosidase
(1st Aid; p 98)
2 is a multiple of 4
Cori's disease is type ____ glycogen storage disease; ______ is the enzyme that is deficient.
III; (debranching enzyme) alpha 1,6 glucosidase
(1st Aid; p 98)
3 is a multiple of 6
McArdle's disease is type ____ glycogen storage disease; ______ is the enzyme that is deficient.
V; (skeletal muscle) glycogen phosphorylase
(1st Aid; p 98)
Von Gierke's disease findings (4):
severe fasting hypoglycemia
very high glycogen in liver
high blood lactate
(1st Aid; p 98)
2 blood; 2 liver
Pompe's disease findings:
cardiomegaly; heart, liver and muscle damage; early death
(1st Aid; p 98)
Cori's disease findings:
milder von Gierke's (fasting hypoglycemia, high glycogen in liver, hepatomegaly)
BUT normal blood lactate
(1st Aid; p 98)
McArdle's disease findings:
high glycogen in muscle-cannot be broken down -->
painful cramps, strenuous exercise-->myoglobulinuria
(1st Aid; p 98)
McArdle muscle
In Fatty acid synthesis, _____ is transported across _____ by _______ in the inner mitochondrial membrane.
acetyl CoA
mitochondrial matrix
citrate shuttle
(1st Aid; p 100)
In fatty acid synthesis, acetyl CoA is converted to ________ by ____ and _____ in the cell cytoplasm.
malonyl CoA
(1st Aid; p 100)
Fatty acid degradation (Beta-oxidation) takes place in _____
the mitochondrial matrix
(1st Aid; p 100)
In fatty acid degradation, 1st fatty acids combine with _____ and with the enzyme,_____, forming _____
fatty acid CoA synthetase
acyl CoA
(1st Aid; p 100)
In fatty acid degradation, acyl CoA is transported to _____ via ______ in ________.
the mitochondrial matrix
carnitine shuttle
inner mitochondrial membrane
(1st Aid; p 100)
Malonyl CoA inhibits ________
the carnitine shuttle
(1st Aid; p 100)
Ketone bodies (______ and ______) are made from ______ and _____ via ____in the _______ during periods of prolonged starvation and _____.
fatty acids
amino acids
diabetic ketoacidosis (DKA)
(1st Aid, p 100)
Ketone bodies, ____ and _____, are mainly used by _____ and _____.
(1st Aid, p 100)
How does the body get rid of excess ketone bodies?
they're excreted in the urine
(1st Aid, p 100)
The brain metabolizes ketone bodies to ______
2 molecules of acetyl CoA
(1st Aid, p 100)
_______ is the main ketone body detected in urine tests
(1st Aid, p 100)
The rate-limiting step in cholesterol synthesis is ________ which converts _____ to _______.
HMG CoA reductase
(1st Aid, p 100)
________ inhibits HMG CoA reductase.
(1st Aid, p 100)
_____ of plasma cholesterol is _______ by __________
lecithin cholesterol
acyltransferase (LCAT)
(1st Aid, p 100)
pancreatic lipase degrades triglycerides in ______
the small intestine (from the diet!)
(1st Aid, p 101)
lipoprotein lipase degrades triglycerides in ________
circulating in chylomicrons and VLDLs
(1st Aid, p 101)
hepatic triglyceride lipase degrades triglycerides ____
remaining in IDLs
(1st Aid, p 101)
hormone-sensitive lipase degrades triglycerides ____
stored in adipocytes
(1st Aid, p 101)
role of Apolipoprotein A1
activates LCAT
(1st Aid, p 101)
role of Apolipoprotein B-100
Bind to LDL receptor
(1st Aid, p 101)
Role of Apolipoprotein C-II
Co-factor for lipoprotein lipase (1st Aid, p 101)
Role of Apolipoprotein E
Mediates EXTRA (remnant) uptake
(1st Aid, p 101)