BIOMED 4.3

What is familial hypercholesterolemia and how is it inherited?

A genetic defect in the LDL receptor, It causes one to have high levels of cholesterol. - Autosomal Dominant

How do doctors interpret the results of a cholesterol test?

Total blood cholesterol level: High risk: 240 mg/dL and above Borderline high risk: 200-239 mg/dL Desirable: Less than 200 mg/dL LDL cholesterol levels: Very high risk: 190 mg/dL and above High risk: 160-189 mg/dL Borderline high risk: 130-159 mg/dL Near optimal: 100-129 mg/dL Optimal: Less than 100 mg/dL HDL cholesterol: High risk: Less than 40 mg/dL Desirable: 60 mg/dL and above Triglyceride level : Ideal: below 150 mg/dL From 150 to 199 : borderline From 200 to 499 : high 500 + : very high

What lifestyle changes may help a patient obtain healthy cholesterol levels?

dietary, exercise, tobacco cessation, weight loss, stress management

Describe how cholesterol buildup can impact blood flow through arteries.

BUILDUP OF CHOLESTEROL IN ARTERIES CAN CAUSE BLOCKAGES OR LEAD TO atherosclerosis

How does intake of unsaturated, saturated, and trans fats affect cholesterol levels and overall health?

- "Good" Unsaturated fats - Unsaturated fats lower disease risk and lower cholesterol levels. - "Bad" trans fats - increase the risk for disease. - Saturated fats - not as harmful to the human as trans fats but still negatively impacts health.

Use proper laboratory techniques to separate DNA fragments by gel electrophoresis.

- DNA samples are loaded into wells (indentations) at one end of a gel, and an electric current is applied to pull them through the gel. - DNA fragments are negatively charged, so they move towards the positive electrode. Because all DNA fragments have the same amount of charge per mass, small fragments move through the gel faster than large ones. - a gel is stained with a DNA-binding dye, the DNA fragments can be seen as bands, each representing a group of same-sized DNA fragments.

What are LDL and HDL?

- LDL are low-density lipoprotein cholesterol "bad" cholesterol - HDL are high density lipoprotein cholesterol "good" cholesterol

Compare and contrast the role of HDL and LDL in the body and how each relates to health.

- LDL are primary carriers of cholesterol - bring cholesterol to cells throughout the body and cause build up in arteries - HDL can benefit health because they carry cholesterol away from your heart and other organs and back to the liver.

What is atherosclerosis?

Atherosclerosis is a condition where the arteries become narrowed and hardened due to a buildup of plaque around the artery wall.

What do the results of a cholesterol test mean? How do patients interpret each value?.

Desirable Cholesterol Total cholesterol Less than 200 mg/dL LDL ("bad") cholesterol Less than 100 mg/dL HDL ("good") cholesterol 40 mg/dL or higher Triglycerides Less than 150 mg/dL

Why do doctors monitor the concentrations of LDL and HDL in patients' blood?

Doctors monitor HDL and LDL in a patient's' blood to determine whether a person is at risk for heart disease. - Too much LDL is bad for the body because it can increase the risk for heart disease - Too little HDL can cause LDL levels to not lower enough for a good cardiovascular health to be promoted.

Coronary Artery Bypass Graft (CABG) surgery

During coronary bypass surgery, a healthy blood vessel is taken from your leg, arm or chest and connected to the other arteries in your heart so that blood bypasses the diseased or blocked area.

How are the concentrations of LDL and HDL associated with the risk for heart disease and associated disorders?

High Levels of LDL - Increases risk for heart disease High Levels of HDL - Reduces risk for heart disease

How does the heart work as a pump?

It contracts (sucks up air as the pump) and relaxes (pushes the air out) which will pump the blood throughout the body.

How do LDL and HDL differ structurally and functionally?

Main structural difference between LDL and HDL is their compositions - Approximately 50 percent of the weight of an LDL particle is cholesterol and only 25 percent is protein. - HDL consists of 20 percent cholesterol by weight and 50 percent protein Main functional difference - LDL are primary carriers of cholesterol - bring cholesterol to cells throughout the body and cause build up in arteries - HDL can benefit health because they carry cholesterol away from your heart and other organs and back to the liver.

What are the pros and cons of using cholesterol lowering medications?

Pros- lower cholesterol and help with health Cons- pain in the muscles, vomiting, brown urine, pain in the abdomen, cramps, or gas

What can patients do to change the levels of LDL and HDL in their blood?

Reduce the amount of fat and cholesterol will increase HDL levels and decrease LDL levels. - Limit saturated fat intake, cholesterol should be 200 mg per day - Cholesterol lowering food; whole grains, beans, fish, nuts, etc - Increase omega 3 fatty acid intake to make HDL high - Partake in physical activity

Describe how restriction enzymes and gel electrophoresis can be used to analyze genetic information.

Restriction enzymes cut DNA at specific sequences. Because restriction enzymes cut at specific sequences a single base pair change in a sequence can eliminate the ability of an enzyme to cut that sequence. -- RESTRICTION ENZYMES ARE WHY THE BANDS APPEAR DURING GEL ELECTROPHORESIS IF THE BAND IS NOT CUT

How can cholesterol plaques affect the overall function of the heart?

The cholesterol plaques begin to slowly narrow the arteries causing blockage, which will not allow blood flow. This causes more pressure on the heart, thus leading to a heart attack.

Angioplasty -

The doctor threads a thin tube through a blood vessel in the arm or groin up to the involved site in the artery. The tube has a tiny balloon on the end. When the tube is in place, the doctor inflates the balloon to push the plaque outward against the wall of the artery. This widens the artery and restores blood flow.

Stent insertion -

The doctor will insert a tiny, flexible plastic tube called a catheter through an artery in our groin, leg, or arm. A special dye is injected so blood flow through the arteries is visible on the TV monitors. The doctor moves a balloon catheter, and then a stent, to the site of the blockage. The balloon is inflated and stretched wide against the artery walls, which opens the blockage. Then the balloon is deflated and taken out, leaving the stent in place.

What other molecules in a patient's blood are monitored along with LDL and HDL?

Triglycerides are a type of fat found in the bloodstream, and is used to store energy and give energy to the muscles - High levels increase the risk of heart disease, saturated fat -

How can techniques of molecular biology be used to analyze DNA for the presence of the FH mutation?

We can use gel electrophoresis to compare patient DNA to DNA positive for the FH mutation