Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
158 Cards in this Set
- Front
- Back
- 3rd side (hint)
What enzyme is defective in metochromatic leukodystrophy?
|
Arylsulfatase A
|
|
|
Trinucleodtide repeat associated with Friedrich's ataxia.
|
GAA
|
|
|
Trinucleodtide repeat associated with Fragile X syndrome.
|
CGG
|
|
|
Trinucleodtide repeat associated with Myotonic dystrophy.
|
CTG
|
|
|
Trinucleodtide repeat associated with Huntington's disease.
|
CAG
|
|
|
What type of collagen is defected in osteogenesis imperfecta?
|
Type I
|
|
|
What type of osteogenesis imperfecta normally results in death in utero?
|
Type II
|
|
|
What type of collagen is defected in Alport Syndrome
|
Type IV
|
|
|
What type of collagen is defected in Ehlers-Danlos syndrome?
|
Type III
|
|
|
How does Type IIa familial dyslipidemia manifest?
|
-hypercholesterolemia-->high total cholesterol and high LDL
|
|
|
Describe the MOA of I-cell disease.
|
Results from failure of the golgi apparatus to add mannose-6-phosphate to lysosomal proteins.
|
|
|
What does lac operon family of proteins do?
|
pertains to the metabolism of lactose
|
|
|
What does Bcl-2 family of proteins do?
|
-dually functioning protein that has both anti- and pro-apoptotic mediators.
-over expression in lymphocytes can lead to cancer -rogue genes will establish channels and alter pH and Ca+ flow |
|
|
What does RAS family of proteins do?
|
-signal transductor
|
|
|
What does p53 family of proteins do?
|
tumor suppressor that may trigger apoptosis
|
|
|
What does BRCA family of proteins do?
|
-DNA repair gene
-linked to beast cancer when mutated |
|
|
Describe Type I hyperlipidemia.
|
-Patient has either: 1. lipoprotein lipase deficiency, 2. abnormal lipoprotein lipase, 3. apo-CII defects
-hypertriglyceridemia with elevated chylomicrons and VLDLs -LDL and HDLs low -treat with low fat diet -autosomal recessive |
|
|
Describe Type IIA hyperlipidemia.
|
-Patient has defect in the LDL receptor
-LDL levels elevated -autosomal dominant |
|
|
Describe Type IIB hyperlipidemia.
|
-Patient has mutant apoprotein B100
-increased LDL and VLDL -autosomal dominant |
|
|
Describe Type III hyperlipidemia.
|
-Patient has mutant apoprotein E
-increased chylomicrons, IDL, LDL and VLDL -decreased HDL |
|
|
Describe Type IV hyperlipidemia.
|
-Overproduction of VLDL in association with glucose intolderance and hyperinsulinemia
-hypercholesterolemia with low LDL and HDL -autosomal dominant |
|
|
Describe Type V hyperlipidemia.
|
-Elevated chylomicrons and VLDLs
-high total cholesterol with low LDL and HDL |
|
|
What is the enzyme that makes cAMP?
|
adenylyl cyclase
|
|
|
What is the enzyme that breaks down cAMP?
|
phosphodiesterase
|
|
|
What is the rate limiting enzyme of triglyceride breakdown?
|
hormone sensitive lipase
|
|
|
What is the rate limiting enzyme of the production of cholesterol?
|
HMG CoA reductase
|
|
|
What is the rate limiting enzyme of fat synthesis?
|
Acetyl CoA carboxylase
|
|
|
What is the first fatty acid that is made in the body (all other fatty acids are made from it?)
|
palmitate-->16 carbon saturated
|
|
|
What are stimulators and inhibitors of Acetyl CoA carboxylase?
|
stimulated by insulin
inhibited by glucagon and Epinephrine |
|
|
Where does fatty acid synthesis take place?
|
the cytoplasm of the liver
|
|
|
What are the essential fatty acids?
|
linolenic and linoleic acid
|
|
|
Why may infants or dialysis patients have raised FFA levels and hypoglycemia?
|
-Due to decreased carnitine levels, the transferases levels are low and thus there is decreases fatty acid oxidation.
-ketone bodies are never made |
|
|
What is arachidonic acid the precursor for?
|
prostaglandins, thromboxane, leukotrienes
|
|
|
What do prostaglandins do?
|
Cause vasodilation, exudation and pain
|
|
|
What do does thromboxane do?
|
Causes platelet aggregation and vasconstriction
|
|
|
What do leukotrienes do?
|
cause POTENT bronchoconstriction
|
|
|
What dos cyclooxygenase catalase?
|
The conversion of arachidonic acid to prostaglandins (and then thromboane)
|
|
|
Where are the primary bile acids made?
|
In the liver from cholesterol
|
|
|
Where are the secondary bile acids made?
|
In the intestine by bacteria from bile acids
|
|
|
Which part of the blood vessel is excess LDL-cholesterol deposited?
|
intima (inner lining)
|
|
|
What is the only phospholipid that is antigenic to humans?
|
cardiolipin
|
|
|
What phospholipid is the primary component of surfactant?
|
phosphatidyl choline
|
|
|
What do sphingolipids comprise?
|
Along with long chain FAs, they comprise the bulk of the myelin sheath that insulates nerve fibers of the CNS.
|
|
|
What are the characteristics of Niemann-Pick disease?
|
hepatosplenomegaly
MR-severe cherry red macula fatal early in life |
|
|
What is the defective enzyme in Niemann-Pick disease?
|
sphingomyelinase
|
|
|
What accumulates in Niemann-Pick disease?
|
sphingomyelin
|
|
|
What are the characteristics of Gaucher's disease?
|
hepatosplenomegaly
MR erosion of long bones/osteoporosis Ashkenazi Jews |
|
|
What is the defective enzyme in Gaucher's disease?
|
B-glucosidase
|
|
|
What accumulates in Gaucher's disease?
|
Cerebroside
|
|
|
What are the characteristics of Krabbe's disease?
|
MR-severe
blindness, deafness, convulsions, paralysis (due to almost complete abscence of myelin) fatal early in life |
|
|
What is the defective enzyme in Krabbe's disease?
|
B-galactosidase
|
|
|
What accumulates in Krabbe's disease?
|
Cerebroside (BBC)
Galactocerebroside (FA) |
|
|
What are the characteristics of Fabry's disease?
|
Angiokeratomas
Reddish-purple rash kidney failure heart failure |
|
|
What enzyme is defective in Fabry's disease?
|
alpha-galactosidase
|
|
|
What accumulates in Fabry's disease?
|
Ceramide trihexoside (FA)
globoside (BBC) |
|
|
What are the characteristics of metochromatic dystrophy disease?
|
MR
psychiatric problems, dementia progressive paralysis |
|
|
What enzyme is defective in metochromatic dystrophy disease?
|
aryl sulfatase
|
|
|
What accumulates in metochromatic dystrophy disease?
|
cerebroside sulfate
|
|
|
What are the characteristics of Tay-Sachs disease?
|
MR
cherry red macula blindness |
|
|
What enzyme is defective in Tay-sachs disease?
|
hexosaminidase A
|
|
|
What accumulates in Tay-Sachs disease?
|
degraded ganglioside (FA says GM2 ganglioside)
|
|
|
From what amino acid does dopamine, NE, and Epi originate?
|
Phenylalanine
|
|
|
From what amino acid is niacin (vitamin B3) maufactured?
|
tryptophan
|
|
|
What are the two forms of niacin?
|
Nicotinamide and Nicotinate
|
|
|
From what molecule is melatonin derived?
|
Serotonin (and originally the amino acid tyrptophan)
|
|
|
What vitamin is used a cofactor in the conversion of glutamate to GABA?
|
PLP-->vitamin B6
|
|
|
What amino acid is responsible for the creation of heme?
|
Glycine
|
|
|
Creatine is derived from what amino acid?
|
Glycine
|
|
|
Lead inhibits what two steps in the synthesis of heme?
|
-Inhibits the enzyme delta-ALA dehydrase, inhibiting the creation of porphobilinogen
-Inhibits the enzyme ferrochelatase, inhibiting the creation of heme from protoporphyrin IX |
|
|
What is the danger of high homocysteine levels?
|
-more prove to early onset atherosclerosis
|
|
|
What enzyme is deficient in PKU?
|
phenylalanine hydroxylase
|
|
|
What accumulates and what is decreased in PKU?
|
Phenyl ketones accumulate and DOPA, Epi, and NE levels are decreased
|
|
|
What enzyme is decreased in alpatonuria?
|
homogentisate oxidase
|
|
|
What enzyme is deficient in Maple syrup urine Disease
|
alpha ketoacid dehydrogenase
|
|
|
What enzyme is deficient in Homocystinura?
|
Cystathionine synthase
|
|
|
How does homocystinuria present?
|
-MR
-lens dislocation -increased CAD -traps adenosine as free SAH-->decreased ATP can be made -increased platelet aggregation and endothelial damage |
|
|
What is the problem in cystinuria?
|
Defect in the membrane transport of dibasic amino acids (cysteine, ornithine, arginine, lysine).
|
|
|
What is Hartnup disease?
|
-decreased serum tryptophan due to defect in membrane transport
-pellagra due to niacin deficiency |
|
|
What comprises maltose?
|
glucose + glucose
|
|
|
What comprises lactose?
|
glucose + galactose
|
|
|
What comprises sucrose?
|
glucose + fructose
|
|
|
What is the defective enzyme in Fructose intolerance?
|
Aldolase B
|
|
|
What molecule accumulates in fructose intolerance?
|
fructose-1, 6-PO4 and all other molecules in front of it in glycolysis including glucose-6-PO4, which leads to the body shutting down glycogenolysis and gluconeogensis
|
|
|
Describe the signs and symptoms of galactosuria.
|
-Autosomal recessive
-Increased serum galactose -MR and physical stunting -possible cataracts -liver failure |
|
|
What is the rate limiting enzyme to glycogen synthesis?
|
Glycogen synthase
|
|
|
What enzyme is lacking in Von Gierke's disease?
|
Glucose-6-phosphatase
|
|
|
What accumulates in Von Gierke's disease?
|
G-6-P and G-1-P
|
|
|
What are the signs and symptoms of Von Gierke's?
|
-hypoglycemia because of constant stimulation of glycogenesis and inhibition of glycogenolysis
-hepatomegaly -enlarged kidneys |
|
|
What are the signs and symptoms of Pompe's?
|
-hepatomegaly
-cardiomegaly -muscle hypotonia death by age 2 |
|
|
What enzyme is lacking in Pompe disease?
|
lysosomal alpha 1, 4 glycosidase
|
|
|
What accumulates in Pompe disease?
|
-glycogen
|
|
|
What enzyme is lacking on Cori disease?
|
debranching enzyme (alpha 1, 6 glucosidase)
|
|
|
What accumulates in Cori disease?
|
branch points of glycogen
|
|
|
What are the signs and symptoms of Cori disease?
|
hepatomegaly-->may not develop until 20s
|
|
|
What enzyme is lacking in McArdle disease?
|
skeletal muscle phorphorylase
|
|
|
What accumulates in McArdle disease?
|
glycogen in skeletal muscle
|
|
|
What are the signs and symptoms of McArdle disease?
|
-muscle pain and cramps in excercice
-no rise in lactate during excercise -progressive muscle weakness |
|
|
What is the defective enzyme in Hurler disease?
|
alpha-L iduronidase
|
|
|
What accumulates in Hurler disease?
|
heparan sulfate
dermatan sulfate |
|
|
What are the physical findings in Hurler disease?
|
corneal clouding
MR myocardial ischemia coarse facial features dwarfing |
|
|
What is the defective ezyme in Schie disease?
|
alpha-L iduronidase
|
|
|
What accumulates in Scheie syndrome?
|
Heparan sulfate
Dermatan sulfate |
|
|
What are the physical findings in Scheie syndrome?
|
corneal clouding
NORMAL intelligence aortic valve disease stiff joints |
|
|
What is the deficient enzyme in Hunter's?
|
iduronate sulfatase
|
|
|
What accumulates in Hunters?
|
Heparan sulfate
Dermatan sulfate |
|
|
What are the physical findings in Hunters?
|
NO corneal clouding
MR various physical deformities |
|
|
Which porphyria is NOT AD?
|
congenital erythropoietic porphyria-->AR
acquired |
|
|
At what point in the porphyria chain ist acute intermittent located?
|
In the conversion of porphobilinogen to hydroxymethylbilinogen
|
|
|
At what point in the porphyria chain is congenital erythropoietic located?
|
In the conversion of hydroxymethylbilinogen to uroporphyrinogen III
|
|
|
At what point in the porphyria chain is cutanea tarda located?
|
In the conversion of uroporphyrinogen III to coproporphyrinogen
|
|
|
At what point in the porphyria chain is coproporphria located?
|
In the conversion of coproporphyrinogen to protoporphyrinogen.
|
|
|
What are the substrates of gluconeogenesis?
|
lactic acid, glycerol, alpha-ketoacids
|
|
|
Which vitamin is important for hydroxylation of proline and lysine for collagen synthesis?
|
Vitamin C
|
|
|
Which vitamin is part of rhodopsin?
|
Vitamin A
|
|
|
Why do elderly have a Vitamin K deficiency?
|
Decreased gut flora
|
|
|
What role does Vitamin D play?
|
Allows for Ca absorption in the gut
|
|
|
Which is the most toxic of all the Vitamins?
|
Vitamin D
|
|
|
What are the two types of beriberi, what causes them, and what do they lead to?
|
-From deficient B1
-wet: leads to cardiomyopathy -dry: dry skin, disordered thinking, irritability |
|
|
What disease can deficient B6 lead to?
|
Microcytic anemia
|
|
|
What processes require B12?
|
Methionine synthesis, DNA synthesis, and odd carbon FA degradation
|
|
|
A deficiency in which vitamin causes pellagra?
|
B3 (niacin)-->dermatitis, diarrhea, dementia (death)
|
|
|
Riboflavin is a component of what substrates?
|
FAD, FMN
|
|
|
Which are the non glucogenic amino acids?
|
leucine and lysine
|
|
|
How many ATPs are made per glucose in glycolysis?
|
2 net ATPs
|
|
|
What is the ATP total for metabolism of 1 glucose?
|
38 ATPs
|
|
|
What enzyme converts pyruvate to acetyl coA for use in the Krebs cycle?
|
pyruvate dehydrogenase
|
|
|
What cells secrete insulin?
|
Pancreatic Beta-islet cells
|
|
|
What cells secrete glucagon?
|
Pancreatic alpha-cells
|
|
|
Name the purines
|
Adenine
Guanine **PUR As Gold: Purines |
|
|
Name the pyrimidines
|
Uracil-->RNA
Cytosine-->RNA and DNA Thymine-->DNA **CUT the PY (pie): Pyrimidines |
|
|
Name the base pairs.
|
A and T
G and C In RNA A and U |
|
|
When purine bases are degraded, wht is the final product?
|
Uric acid
|
|
|
What is transcription?
|
The process of reading a DNA strand to produce an RNA strand (mRNA)
|
|
|
What is translation?
|
the process of reading mRNA to determine the amino acid sequence of a growing protein; occurs at the ribosome
|
|
|
What polymerase does alpha-amanitin inhibit?
|
Polymerase II, which makes RNA to be later transcribed into protein
|
|
|
What is the function of the 5' cap of RNA?
|
facilitated initiation of translation and helps to stabilize mRNA
|
|
|
What is the function of the Poly-A tail of RNA?
|
helps RNA exit from nucleus and helps stabilize mRNA
-added to the 3' end |
|
|
What is the function of snRNPs?
|
Bind to the ends of introns, bring together neighboring exons into correct alignment for splicing.
|
|
|
In which direction is a new strand of DNA produced?
|
5'-3' direction
|
|
|
What does polymerase gamma do?
|
Replicates and repairs the DNA
Has 3' to 5' exonuclease proofreading ability |
|
|
Which bacterial polymerase has 5' to 3' exonuclease activity?
|
Polymerase I
|
|
|
Describe exergonic reactions.
|
Reactions in which there is a net loss of energy, thus the delta G is negative
|
|
|
A shift in the oxygen saturation curve in which direction is associated with a decreased affinity for oxygen?
|
to the right
|
|
|
What metabolic effects are associated in a person diagnosed with diabetes Type I?
|
Increased gluconeogenesis
Increased glycogenolysis Increased lipolysis increased serum free fatty acids --> all this occurs because of lack of insulin to inhibit these things |
|
|
What molecule would be most decreased in the body in a person following a fat free diet?
|
Prostaglandin-->because formed from arachidonic acid, which is formed from phospholipids that contain a particular fatty acid known as linoleic acid. Linoleic acid is an essential fatty acid, meaning that it can only be derived from one's diet.
|
|
|
What is the DIRECT precursor to melanin, dopamine, NE, epinephrine, and thyroid hormones?
|
Tyrosine
|
|
|
What is the mneumonic to remember the blotting techniques?
|
Southern DNA
Northern RNA Western Protein SNoW DRoP |
|
|
What drug does penicillamine bind?
|
Copper
|
|
|
Where is most Vitamin B12 stored?
|
Liver
|
|
|
What type of cells can be seen in Krabbe disease?
|
Globoid cell accumulation in the brain
|
|
|
Where are Apolipoprotein B48 found?
|
chylomicrons
|
|
|
Describe noncompetitive inhibitors.
|
-bind reversibly
-bind site other than active site -don't compete with substrate for binding to the enzyme -Km remains unchanged -effect on enzyme is independent of substrate concentration |
|
|
What is the defect in sickle cell anemia?
|
Glutamic acid residue in the beta chain of hemoglobin is replaced by valine
|
|
|
What enzyme is responsible for the production of leukotrienes?
|
lipooxygenase
|
|
|
What are the products of pyruvate dehydrogenase complex?
|
NADH
acetyl CoA |
|
|
Which tissues are gluconeogenic?
|
liver, kidney, small intestines
|
|
|
What molecule is deficient secondary to G6PD deficiency?
|
Glutathione
|
|
|
What is the enzyme deficiency in galactosuria (galactosemia)?
|
galactose-1-PO4 uridylyl transferase
|
|