Term
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Definition
| complex lipid required by the body that we bring in through dietary sources |
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Term
| What does cholesterol do? |
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Definition
| stabilizes lipid membranes, precursor for steroid hormones, vitamin D and bile salts |
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Term
| how does cholesterol circulate through the body |
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Definition
| lipoproteins, which can be classified according to their density through centrifugation |
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Term
| Where is cholesterol processed and packaged? |
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Definition
| processed by the liver and packaged into very low-density lipoproteins |
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Term
| When is cholesterol processed into LDLs? |
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Definition
| when it enters circulation |
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Term
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Definition
| Because LDL circulates and then makes its way to the periphery |
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Term
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Definition
| take cholesterol from the LDL and peripheral tissues and transport it back to the liver for repackaging or excretion |
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Term
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Definition
| Because the HDL remove cholesterol from the circulation |
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Term
| what is wrong with excess serum cholesterol levels? |
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Definition
| increase a patient’s risk of heart attack or stroke |
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Term
| What happens to excess cholesterol? |
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Definition
| accumulates in the circulation and creates plaques along the arterial walls and can block blood flow |
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Term
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Definition
| heart attack (heart) and stroke (brain) |
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Term
| what do elevated levels of serum cholesterol indicate? |
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Definition
| need for a change in diet and more exercise |
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Term
| What does fiber do? 5-10g |
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Definition
| another way to remove cholesterol as the cholesterol binds to fiber in the intestines and it is excreted in the feces |
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Term
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Definition
| helps because omega-3 fatty acids reduces blood pressure and the risk of blood clots… |
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Term
| What is a medication which assists in lowering cholesterol levels? |
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Definition
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Term
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Definition
| Familial hypercholesterolemia (FH) was also the first genetic disorder shown to cause myocardial infarction |
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Term
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Definition
| It is an autosomal dominant disorder due to mutations in the LDL receptor on chromosome 19p |
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Term
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Definition
| LDL levels are 3x more than normal, one functional gene and half the normal amount of LDL receptors |
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Term
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Definition
| LDL levels are 6-10x more than normal, completely lack functional LDL receptors and therefore possess extremely high blood cholesterol levels |
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Term
| incidence of homozygotes and heterozygotes |
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Definition
| 1 in 500 are heterozygotes and 1 in 1,000,000 are homozygotes for this disease |
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Term
| what is the result of gene mutations in FH? |
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Definition
| reduced numbers of receptors, or defective receptors |
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Term
| what does the mutation do to LDL? |
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Definition
| inhibits, or decreases the ability of, LDL to bind to its cell surface receptors… LDL therefore cannot enter the cell to be degraded in adequate amounts |
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Term
| What happens when LDL cannot enter the cell? |
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Definition
| LDL accumulates in the plasma and is deposited in abnormal sites such as the arteries (causing atherosclerosis) and the tendons (causing xanthomas) |
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Term
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Definition
| Typical age of onset of coronary heart disease is 40 years of age, By age 60, 85% will have had an MI |
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Term
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Definition
| Typical age of onset of coronary heart disease is 55 years of age, By age 60, 50% will have had an MI |
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Term
| Where do LDL-derived cholesteryl ester deposit? |
|
Definition
| soft tissue of the eyelids, cornea, tendons, elbows, ankles, and knees |
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Term
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Definition
| plantar xanthomas on body, cholesterol deposits on heart valve (CHF), MI, angina, sudden death, few live past 30 |
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Term
| Why do clinicians hesitate to institute vigorous therpy? |
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Definition
| myelination of the central nervous system is not complete until about 6 years of age, LDL is important in the delivery of lipids to the tissues |
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Term
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Definition
| determine if any, or all, of the patients have a mutation for FH |
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Term
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Definition
| reduces cholesterol ester to cholesterol |
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Term
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Definition
| oxidizes cholesterol to cholestenone and hydrogen peroxide |
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Term
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Definition
| hydrogen peroxidase is a substrate to produce water plus oxygen, which reacts with the detection reagents to form a color compound |
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Term
| density gradient centrifugation |
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Definition
| fractions of total cholesterol contained in LDL or HDL can be determined |
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Term
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Definition
| Total cholesterol levels greater than 200 mg/100 ml or LDL levels greater than 130 mg/100ml |
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Term
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Definition
| familial hypercholesterolemia mutation |
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Term
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Definition
| variation in the restriction pattern in the region in diseased versus healthy individuals |
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Term
| what occurs after amplification? |
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Definition
| the DNA is digested with a specific restriction enzyme that splices the mutated DNA into two |
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Term
| If the patient has no mutation |
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Definition
| one DNA band will be present because there is no cutting site for the restriction enzyme |
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Term
| If the patient is homozygous |
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Definition
| two bands will be present in the gel as both alleles are cut into two DNA fragments |
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Term
| If the patient is heterozygous |
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Definition
| three DNA bands will shown the gel because one allele is normal and is not spliced, whereas the mutated allele is spliced into two DNA fragments |
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