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121 Cards in this Set

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  • Back
Acetyl CoA from the ___ moves into the ___ via the ___ shuttle, where it combines with CO2/biotin to form ___-CoA for FA synthesis.
mitochondria, cytoplasm, citrate shuttle, Malonyl-CoA
What is the enzyme that catalyzes the reaction: FA + CoA --> Fatty acyl CoA?
Fatty acyl CoA synthetase (durr.)
What is the role of carnitine?
Carnitine transports long chain FAs (like coenzyme A) into mitochondria
What step in FA degradation does malonyl CoA inhibit?
Malonyl CoA inhibits carnitine shuttle from moving FA from cytoplasm to mitochondria (recall: insulin inc. production malonyl-CoA)
What happens if you are missing part of the carnitine shuttle?
Can't use long chain FA as metabolic fuel in skeletal muscle, causing myoglobinemia and weakness following exercise
Under what situations would you find ketone bodies?
1) diabetic ketoacidosis
2) prolonged starvation
Which organs utilize ketone bodies?
1) muscle
2) brain
Where are ketone bodies made, and from what substrate?
Liver; HMG-CoA
HMG-CoA --> ___ --> ___
acetoacetate --> Beta-hydroxybutyrate
Where does HMG-CoA come from?
Acetyl-CoA --> acetoacetyl-CoA --> HMG-CoA
Ketone bodies are metabolized by the brain to 2 molecules of:
acetyl CoA
Someone in ketoacidosis has breath that smells:
What is the rate limiting step in cholesterol synthesis?
HMG-CoA --> mevalonate, via enzyme HMG-CoA reductase
Which group of drugs inhibits HMG-CoA reductase?
Statins, like Lovastatin
What does LCAT stand for?
lecithin cholesterol acyltransferase, which esterifies plasma cholesterol
Which enzyme degrades your dietary TGs --> FFAs in the small intestine?
pancreatic lipase
Intestinal epithelial cells convert FFAs back into ___ and package them into ___.
TGs, chylomicrons
Chylomicron = TG + ___ + ___ + ___ + ___.
E, A, C-II, B-48
Which enzyme degrades chylomicrons and VLDL?
lipoprotein lipase
Chylomicron remnant is taken up by liver which puts out VLDL, consisting of:
VLDL = TG + CE + E + B-100 + C-II
What does hepatic TG lipase degrade?
the remaining TG left in IDL
LDL = ___ + ___.
CE + B-100
B-100 on LDL and IDL binds to:
LDL receptor on Liver surface
What enzyme degrades the TG stored in adipocytes?
hormone-sensitive lipase
What is "A" on the surface of a chylomicron?
activates LCAT
What is C-II on the surface of chylomicron & VLDL?
cofactor for lipoprotein lipase (recall: this enzyme degrades chylomicrons & VLDL)
What is the "E" on surface of chylomicron, remnant, VLDL, IDL?
mediates "extra" (remnant) uptake -- whatever that means.
What is the role of chylomicron?
deliver TGs to tissues and Cholesterol to liver
What happens if you have excess chylomicrons?
pancreatitis, lipemia retinalis (creamy white vessels), eruptive xanthomas
What is the role of VLDL?
deliver liver TGs to tissues
What happens if you have excess VLDL?
B-48 and B-100 mediate ___ of chylomicrons and VLDL, respectively.
Which lipoprotein delivers TGs and Cholesterol to the liver?
Which lipoprotein delivers hepatic Cholesterol to peripheral tissues?
Excess LDL causes:
atherosclerosis, xanthomas, arcus cornea (white/gray opaque ring around edge of cornea)
What does HDL do?
reverse Ch transport, from tissues --> Liver, also is storage for apoC and apoE which are needed for chylomicron and VLDL metabolism (recall: C-II cofactor for lipoprotein lipase, "E" for remnant uptake)
Where is HDL secreted from?
liver, intestine
Which apolipoprotein helps form structure of HDL?
apoA (recall: A-I activates LCAT)
Which lipoproteins carry most of the body's cholesterol?
Type 1 hyperchylomicronemia
lipoprotein lipase deficiency or altered cofactor C-II; inc. chylomicrons, inc. TG & Cholesterol
Type 2a hypercholesterolemia
dec. LDL receptors; inc. LDL, inc. Cholesterol
Type 2b combined hyperlipidemia
liver overproduction of VLDL; inc. VLDL & LDL; inc. TG & Cholesterol
Type 3 dysbetalipoproteinemia
altered apoE; inc. IDL & VLDL; inc. TG & Cholesterol
Type 4 hypertriglyceridemia
liver overproduction of VLDL; inc. VLDL only; inc. TG
Type 5 mixed hypertriglyceridemia
inc. production/dec. clearance of VLDL & chlyomicrons; inc. VLDL & chylomicrons; inc. TG & Cholesterol
Heme synthesis:
Start with succinyl CoA + Glycine --> ... --> HEME
succinyl CoA + Gly --> ALA (committed step, ALA synthetase) --> porphobilinogen --> preuroporphyrinogen --> uroporphyrinogen III --> coproporphyrinogen --> protoporphyrin (+ Fe) --> HEME
Acute intermittent porphyria affects which step in heme synthesis?
porphobilinogen --> pre-uroporphyrinogen
* missing enzyme uroporphyrinogen I synthetase, porphobilinogen & ALA accumulate in urine
Porphyria cutanea tarda affects which step in heme synthesis?
uroporphyrinogen III --> coproporphyrinogen
* missing enzyme uroporphyrinogen decarboxylase, uroporphyrin accumulates in urine (tea colored), photosensitivity
Lead poisoning affects which 2 steps in heme synthesis?
inhibits ferrochelatase and ALA dehydrase; coproporphyrin and ALA accumulate
5 sxs of porphyrias:
1) painful abdomen
2) pink urine (dk brown...?)
3) polyneuropathy
4) psychological disturbances
5) precipitated by drugs
* do not give barbiturates!
Heme degradation:
HEME --> ___ --> ___
biliverdin --> bilirubin (toxic to CNS and carried by albumin)
Bilirubin is carried to the ___ where it is conjugated to ___ and excreted in ___.
liver, glucuronate, bile
___ is the intestinal intermediate of bilirubin, some of which is reabsorbed and peed out.
Which form of Hb has low affinity for O2? Which has high affinity?
T/taut = low
R/relaxed = high
Hb exhibits positive ___ and negative ___ which accounts for its sigmoid O2 dissociation curve.
cooperativity, allostery
What has 200x the affinity for Hb than oxygen?
carbon monoxide
What are 5 things that favor the T/taut form of Hb?
1) inc. chloride
2) low pH
3) CO2
4) 2,3-BPG
5) temperature
Fetal Hb has ___ affinity for 2,3-BPG than adult Hb, thus has higher affinity for oxygen.
What is methemoglobin?
oxidized form of Hb (ferric, Fe3+) that does not bind O2 well but HIGH affinity for CN-
What do you give in cyanide poisoning?
Give nitrites to oxidize Hb into methemoglobin, to mop up CN.
How do you Tx methemoglobinemia?
methylene blue
CO2 binding favors the ___ form of Hb to promote ___.
T form, O2 unloading
CO2 is transported from tissues to lungs mainly in the form of:
What is PCR used for?
make many copies of a desired fragment of DNA
What is involved in a Southern blot?
DNA sample, labelled DNA probe that anneals to its complementary strand in the sample
What is involved in a Northern blot?
RNA sample, radioactive DNA probe
What is involved in a Western blot?
protein sample, labelled antibody bind to relevant protein
What does an ELISA test for?
antigen:antibody reactivity (patient's blood probed with either test Ag to see if immune system recognizes it, or test Ab to see if certain Ag present)
How are ELISA's sensitivity and specificity?
close to 100% (awesome)
How does ELISA indicate a positive test result?
peroxidase enzyme generates color change in solution
Pleiotropy =
1 gene has > 1 effect on phenotype
Imprinting =
differences in phenotype depend on if mutation was maternal or paternal origin
Loss of heterozygosity =
1st hit is mutation in tumor suppressor gene.
2nd hit knocks out remaining allele.
Cancer develops.
Dominant negative mutation =
heterozygote makes nonfunctional/altered protein that prevents normal gene product from functioning
Mosaicism =
when cells in the body have different genetic makeup
Locus heterogeneity =
mutations at different loci produce same phenotype (albinism)
Linkage disequilibrium =
tendency for certain alleles at 2 linked loci to be inherited more often than expected by chance (occurs in POPULATIONS not families)
4 rules of Hardy-Weinberg =
1) no mutations
2) no selection of genotypes
3) random mating
4) no migration in/out
Auto dominant disorders:
- many generations
- males and females
- often structural genes
- often present after puberty
Auto recessive disorders:
- often due to enzyme deficiencies
- usu. seen in only 1 generation
- usu. present in childhood
X-recessive disorders:
- no male to male transmission
- sons of heterozygote moms have 50% chance affected
- usu. more severe in males
- heterozygote females MAY be affected
X-dominant disorders:
- transmitted thru both parents
- all daughters of affected male are diseased
* hypophosphatemic rickets!
Mito inheritance:
- only thru mother
* Leber's hereditary optic neuropathy, mitochondrial myopathies
Adult Polycystic Kidney disease presents with:
pain, hematuria, HTN, progressive renal failure
Mutation in Adult Polycystic Kidney disease:
chromosome 16, APKD1
Adult Polycystic Kidney disease is associated with: (3)
- berry aneurysms
- polycystic liver dz
- mitral valve prolapse
Familial hypercholesterolemia (hyperlipidemia type IIa) has elevated ___ due to defective ___.
LDL, LDL receptors
Homozygotes with familial hypercholesterolemia have cholesterol ~ ___ and what sxs (3)?
700, with severe atherosclerosis early, tendon xanthomas, MI maybe by age 20
Marfan's syndrome is a mutation in which gene?
What does Marfan's syndrome look like?
tall, long extremities, hyperextensive joints; aortic incompetence and dissecting aortic aneurysms; subluxation of lens
Neurofibromatosis 1 (von Recklinghausen) findings:
cafe au lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas), scoliosis, pheochromocytoma
What are si/sx of NF2?
bilateral acoustin neuroma, optic pathway gliomas, juvenile cataracts
Where do you see ash leaf spots, facial lesions (adenoma sebaceum), cortical and retinal hamartomas, seizures, mental retardation, renal cysts, cardiac rhabdomyomas?
tuberous sclerosis
What auto dominant disease has hemangioblastomas of retina/medulla/cerebellum and multiple bilateral renal cell carcinomas?
von Hippel-Lindau disease (VHL gene on ch3)
What is the genetic defect with Huntington's?
CAG triplet expansion on ch4
How does Huntington's present?
depression, progressive dementia, chorea, caudate atrophy, low GABA and Ach, onset ~ 20-50 yrs
What happens in Familial adenomatous polyposis?
colon covered with adenomatous polyps after puberty --> colon cancer unless resected
Where is the deletion in FAP?
What is the molecular defect in achondroplasia?
cell signalling defect with fibroblast growth factor 3 receptor
Name 11 autosomal dominant diseases:
1) adult polycystic kidney
2) familial hypercholesterolemia
3) Marfan's
4) NF1
5) NF2
6) tuberous sclerosis
7) von Hippel-Lindau
8) Huntington's
9) FAP
10) Hereditary spherocytosis
11) achondroplasia
Name 11 autosomal recessive diseases:
1) cystic fibrosis
2) albinism
3) juvenile polycystic kidney
4) a1-antitrypsin deficiency
5) PKU
6) thalassemias
7) sickle cell anemia
8) glycogen storage disease
9) hemochromatosis
10) mucopolysaccharidoses (except Hunter's)
11) sphingolipidoses (except Fabry's)
What is the problem with cystic fibrosis and how do you Dx?
defective Cl- channel (CFTR ch7) --> thick mucus plug lungs, liver, pancreas --> recurrent lung infections, pancreatic insufficiency [Dx high Cl- in sweat test]
Which 2 bacteria species commonly infect ppl with cystic fibrosis?
Pseudomonas, S. aureas
Why are ppl with cystic fibrosis infertile?
absent vas deferens
How do you Tx cystic fibrosis?
N-acetylcysteine to loosen mucous plugs
Name 10 X-recessive diseases:
1) fragile X
2) Duchenne's musc. dystrophy
3) hemophilia A&B
4) Fabry's
5) Hunter's
6) G6PD deficiency
7) ocular albinism
8) Lesch-Nyan
9) Bruton's agammaglobulinemia
10) Wiskott-Aldrich
What is the genetic defect in Duchenne's muscular dystrophy?
frame shift --> deletion in dystrophin gene --> accelerated muscle breakdown
What disease manifests ~ 5yrs old with weakness in proximal limbs and pseudohypertrophy of calves?
Duchenne's muscular dystrophy
You can Dx muscular dystrophies with inc. ___ and a muscle biopsy.
Creatine Phosphokinase (CPK)
What is Beckers muscular dystrophy?
milder Duchenne's with less severe mutation in dystrophin
What disease presents with mental retardation, big jaw, big testes, everted ears?
Fragile X syndrome - CGG triplet repeat (2nd most common cause of genetic mental retardation)
Name 4 diseases that have triple repeat expansions:
1) Huntington's (CAG)
2) Friedrich's ataxia (GAA)
3) myotonic dystrophy (CTG)
4) fragile X (CGG)
What are the 7 most common congenital malformations?
1) heart defect
2) hypospadias
3) spina bifida
4) anencephaly
5) cleft lip
6) hip dislocation
7) pyloric stenosis
What are 3 autosomal trisomies?
1) Down's (21)
2) Edwards (18)
3) Patau's (13)
What do you find with Down's syndrome?
1) mental retardation
2) flat face
3) simian crease
4) heavy epicanthal folds
5) duodenal atresia
6) septum primum ASD
7) inc. risk ALL
What are signs of Edwards syndrome?
1) severe mental retardation
2) rocker bottom feet
3) small jaw
4) low set ears
5) clenched hands
6) congenital heart problem
7) prominent occiput
8) death by 1 yr
What are signs of Patau's?
1) severe mental retardation
2) small eyes
3) small head
4) cleft lip/palate
5) polydactyly
6) congenital heart problem
7) abnormal forebrain
8) death by 1 yr
What is Cri-du-chat?
deletion of 5p, small head, mental retardation, high pitched crying, epicanthal folds, heart abnormalities (like VSD!)
What is 22q11 syndromes? (CATCH-22)
1) cleft palate
2) abnormal facies
3) thymic aplasia
4) cardiac defect
5) hypocalcemia
6) microdeletion ch22q11
Alcohol has highest risk of being teratogen at what time of gestation?
3-8 weeks --> mental retardation, small head, face abnormalities, limb dislocation, heart & lung fistulas
What is the #1 cause of congenital malformations in the US?
fetal alcohol syndrome