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Definition
| Since lipids are insoluble in water, they are carried in body fluids as soluble protein complexes known as |
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| is a cofactor for LCAT (lecithin cholesterol acyl transferase) |
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| needed for binding of chylomicron remnant to its receptor |
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Definition
| needed for binding of LDL to its receptor |
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Definition
| is cofactor lipoprotein lipase, the enzyme that metabolizes chylomicron and VLDL |
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Definition
| needed for binding of IDL to its receptor |
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Definition
| Transport dietary triglyceride and cholesterol from intestin to tissues; Apoproteins B-48, C-II, apoE; secreted by epithelial cells and activates lipoprotein lipase uptake by liver |
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Definition
| Transports triglyceride from liver to tissues. Apoproteins apoB-100, apoC-II, apo E; secreted by liver, activates lipoprotein lipase, uptake of remnants by liver |
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Definition
| delivers cholesterol into cells; apoprotein b-100; uptake by liver and other tissues via LDL receptor |
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Definition
| picks up cholesterol from HDL to become LDL. Picked up by liver; apoprotein E; uptake by liver |
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Definition
| Picks up cholesterol accumulating blood vessels. Delivers cholesterol to liver and steroidogenic tissues via scavenger receptor (Sr-B1). Shuttles apoC-II and apo E in blood; apoprotein A-1; activates lecithin cholesterol acyl transferase (LCAT) to produce cholesterol esters |
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Term
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Definition
Appearance of chylomicron band at the origin due to increase in TG
Familial lipoprotein lipase or Apo CII deficiency
Slow chylomicron clearance, reduced LDL and HDL levels; treated by low fat/complex carbohydrate diet; no increased risk of coronary artery disease ; ↑risk of acute pancreatitis |
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Definition
Increase in LDL (β) band, as a consequence of increase cholesterol level
Familial hypercholesterolemia, FH
Reduced LDL clearance |
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Term
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Definition
| increase in VLDL (pre-β) band and LDL (β) band as a consequence of increase TG and cholesterol levels |
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Term
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Definition
Broad β band linking pre-β (VLDL) and β (LDL)
Caused by defect in IDL metabolism
Apolipoprotein E deficiency
Symptoms: xanthomas, hypercholesterolemia and atherosclerosis |
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Definition
increase pre-β (VLDL) due to increase in TGD level
Familial hypertriacylglycerolemia
Elevated production of VLDL associated with glucose intolerance and hyperinsulinemia |
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Term
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Definition
increase chylomicron (at origin) and pre-β (VLDL), due to increase TG level
Cause unknown |
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Term
| familial hypercholesterolemia |
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Definition
Characterized by elevated palsma lipids (cholesterol, triglycerides or both) and specific plasma lipoproteins
Abnormalities in these 4 genes can lead to this; LDL receptor, apoprotein B-100, ARH adaptor protein, PCSK9 protease |
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Term
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Definition
| a protease that degrades the LDL receptor |
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Definition
| required for clustering the LDL receptor in the coated pit |
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| mutations in LDL receptor |
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Definition
| what is the most common cause of familial hypercholesterolemia? |
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Definition
Frequency: 1/500 one of the most common inborn errors of metabolism
Twofold elevation of plasma cholesterol (350 -550mg/dl)
Tendon xanthomas and coronary atherosclerosis develop in 3rd and 4th decade of life; this characterizes _____ with familial hypercholesterolemia |
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Term
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Definition
Frequency: 1/1,000,000
Severe Hypercholesterolemia (650 -1000mg/dl)
Cutaneous xanthomas within first 4 years of life
Coronary heart disease begins in childhood
Death from myocardial infarction before age of 20
Frequency: 1/1,000,000
Severe Hypercholesterolemia (650 -1000mg/dl)
Cutaneous xanthomas within first 4 years of life
Coronary heart disease begins in childhood
Death from myocardial infarction before age of 20
these symptoms characterize ____ with Familial hypercholesterolemia |
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Term
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Definition
the following is when this is correctly working; Binds LDL receptor mediated endocytosis delivery to lysosomes LDL degraded and cholesterol released for metabolic use
the following is when this is incorrectly working; Rate of clearance of plasma LDL excess plasma LDL deposited in scavenger cells and other cell types xanthomas and atheromas |
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Term
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Definition
Provides a counter-regulatory mechanism to decrease LDL receptor numbers and prevent excessive uptake of cholesterol
Mutation Gain-of-function decrease LDL receptor to abnormally low levels
Rare cause of FH; AD
Two normal variants of the gene decrease LDL cholesterol level around 20-40% decrease risk of coronary artery disease by 50-90%
Modest lifetime decrease in LDL cholesterol will significantly decrease the incidence of coronary heart disease |
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Definition
| what is the treatment for heterozygotes with familial hypercholesterolemia |
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Definition
Most common fatal genetic disorder in white populations
Autosomal recessive inheritance
Incidence 1 in 2500
Carrier frequency 1 in 25
Gene implicated is CFTR codes for a regulated chloride channel located in apical membrane of epithelial cells |
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Definition
| Two nucleotide binding folds () for binding ATP |
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Definition
| Phosphorylation by ______ activates chloride channel |
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Term
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Definition
| in this class in the CFTR gene there is normal mRNA abundance but an absent protein |
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Term
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Definition
| in this class in the CFTR gene there is defective processing and a 3 base pair deletion so 1 amino acid is lost |
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Term
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Definition
| in this class in the CFTR gene, there is defective regulation and a mutation in ser1255-->proline |
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Term
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Definition
| in this class in the CFTR gene, there is defective conduction due to alternation to the chloride channel and a mutation in Arg117--> histidine |
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Term
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Definition
| in this class in the CFTR gene, there are a reduced number of transcripts |
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Definition
| in this class in the CFTR gene, there is an instability at the cell surface and Gln1412--> stop mutation |
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Definition
| what is the most common base pair deletion that leads to cystic fibrosis and this is detected by using PCR |
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Term
| elevated sweat sodium and chloride |
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Definition
| what is the main phenotypic display of someone with cystic fibrosis |
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Term
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Definition
cystic fibrosis can be classified as a Pulmonary disease
Initially chronic obstructive lung disease
Later stages leads to _____ |
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Term
| maldigestion syndrome due to deficient secretion of pancreatic enzymes |
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Definition
| what is the chief defect in the pancreas due to cystic fibrosis? |
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Definition
cf genocopy is due to mutations in epithelial sodium channel gene ____
Nonclassic presentation
CF-like pulmonary infections
Less severe intestinal disease
Elevated sweat chloride levels
Due to functional interaction with CFTR protein
Locus heterogeneity of CF |
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Term
| exocrine pancreatic function; severity of pulmonary disease |
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Definition
CFTR genotype is a good predictor of ___ ____ ____
CFTR genotype is a poor predictor of __ ___ ____ ___ |
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