***What causes Smith-Lemli-Optiz Syndrome?
***Name 4 symptoms of Smith-Lemli-Optiz Syndrome
malformation of limbs
***What causes Conradi-Hunermann syndrome?
***Name the disorder: chondrodysplasia punctata skin & hair, short stature with skeletal abnormalities, cataracts, and deafness
***What type of genetic disease is Conradi-Hunermann syndrome?
***For what gender is Conradi-Hunermann syndrome lethal?
What is the principal regulatory enzyme of cholesterol synthesis?
What reaction is catalyzed by HMG-CoA reductase?
HMG-CoA + 2 NADPH + 2H+
What phosphorylated form of HMG-CoA is active?
What controls the gene expression of HMG-CoA reductase?
What hormone activates HMG-CoA?
Which hormone inactivates HMG-CoA?
Name 3 ways that cholesterol is metabolized
conversion to bile acids
secreted in bile and egested in feces
reduced by intestinal microorganisms to coprostanol & cholestanol (found in feces)
Name 4 components of bile
bile acid/salts derived from cholesterol catabolism
What is a byproduct of heme breakdown?
How much of hepatic cholesterol is converted to bile?
Name 2 principle (most common) bile acids
Name the enzyme involved in formation of cholic acid
What is the action of cholesterol 7-alpha-hydroxylase?
Introduction of a hydroxyl group @ carbon 7
What 2 amino acids are involved in bile acid conjugation?
***What does cholestasis mean?
"standing still of bile"
***Name the disorder: biliary obstruction of either the small bile ducts or larger extrabiliary ducts
***What is the clinical observation of jaundice?
***What is cholelithiasis?
Cholesterol gallstone disease
***Imbalance in the ratio between which 2 molecules can lead to cholesterol gallstone disease?
***Name 3 causes of gallstone formation
interference of enterohepatic circulation (ileal disease or biliary tract obstruction)
severe hepatic dysfunction with decreased bile synthesis
fibrates that increase biliary cholesterol secretion
***Name 2 physical findings associated with hypercholesterolemia
Achilles tendon xanthomas
patellar tendon xanthomas
What makes up the outer layer of the lipoprotein particle?
Monolayer of phospholipids with a hydrophilic coat
What 2 components make up the inner core of a lipoprotein particle?
TAG, cholesteryl esters
List in descending order the sizes of serum lipoproteins (4)
Which lipoproteins have the highest protein content?
Which lipoproteins have the highest cholesterol content?
Which lipoproteins have the highest TAG content?
Where are chylomicrons produced?
What 2 lipoproteins transport primarily TAG?
What lipoprotein transports cholesterol and cholesteryl esters?
Where are lipoprotein lipases active?
What is the function of lipoprotein lipases?
Hydrolyze TAG from lipoproteins
What lipase in the liver hydrolyzes TAG?
Hepatic TAG lipase
What type of cells make VLDLs?
What type of cells make chylomicrons?
Name 4 membrane lipoprotein receptors
LDL-receptor-related protein (LRP)
What type of membrane lipoprotein receptors remove mature HDL from circulation?
What is the only organ that can metabolize glycerol?
What organ removes the chylomicron remnants?
What accessory protein activates lipoprotein lipase?
Apoprotein C 2
***What disease results from apoprotein C-2 deficiency?