FAQ - Hypercholesterolemia
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hypercholesterolemia?


how can a change in structure and electrical charge of a mutant protein result in hypercholesterolemia?
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Certain protein transporters in our cells are composed of different 3-dimensional structures that can contain, most of the time do, polar areas, hydrophobic groups, and even ion salt bridges that become ionized depending on the environment. It must be known that under physiological conditions, our body maintains a state wherein proteins and their conformations actually conform to their function, that is their structure dictates what type of function/s they may do to effect a particular biochemical reaction.

I believe that transporter proteins are responsible for cholesterol uptake in the blood, and this is regulated at all times as severe differences of cholesterol levels in the blood could result to different kinds of metabolic diseases in that too much blood cholesterol can lead to a cardiovascular disease, while too little of which could result to hormonal deficiency (since cholesterol is a precursor of some of our hormones, like progesterone, estrogen, and testosterone). Imagine, then, that the transporter protein for cholesterol uptake is denatured, that is a certain part of the protein has been mutated such that one amino acid change can induce, say, a difference in polarity of the protein itself. Such subtle change can result in the partial or even total inhibition of the transporter protein, which could translate to increased uptake or decreased uptake, depending on the nature of the transporter itself.

I am not knowledgeable enough in sterol biochemistry, but I can tell you that a small difference in the overall polypeptide charge can have great difference to the function. Take for example hemoglobin, wherein a decrease in pH (and therefore change in charge as one particular histidine group gains a proton) promotes the nature of hemoglobin to release oxygen (this is true in our bodies, because pH decreases in our epithelial tissues where oxygen is "dumped"; pH increases when blood goes back to the lungs where oxygen binds again to hemoglobin).

Take note that this is only concerned with pH differences, and not about any protein mutations, much like that observed in sickle cell anemia, wherein one amino acid change in the primary structure of hemoglobin completely changed its structure to the sickled form, promoting less binding of oxygen. In some sense, this general concept applies to increase levels of cholesterol in the blood due to a defective/mutated transporter protein.

Hope this helps!  (+ info)

What support groups and genetic counselors are there for the genetic disorder: familial hypercholesterolemia?


We are a group of high school students who need to contact a genetic counselor or support group about familial hypercholesterolemia for a biology project. Are there any genetic counselors or groups that you know of?
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Couldn't find any support groups, but I found the NSGC (National Society of Genetic Counselors) website www.nsgc.org. The menu on the left allows you to search for genetic counselors by specialty or by geography. Hope that helps. Sorry I couldn't find a support group!  (+ info)

How do i know if i have Hypercholesterolemia?


How do i know if i have Hypercholesterolemia?
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Very simple. Go to your doctor or provider and have a blood test done called a "Cholesterol Panel." That will tell you all you need to know.  (+ info)

What are the specific packages for treatement of hypercholesterolemia?and in which hospitals in India?


Treatement of hypercholesterolemia?
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Treatment for hypercholesterolemia include diet modification (low fat diet, diet must be low in saturated fatty acids), exercise and the use of antilipidemic agents including cholestyramine(Questran), colestipol (Colestid), lovastatin (Mevacor), pravastatin (Pravachol), simvastatin (Zocor), probucol (Lorelco), gemfibrozil, or niacin.

Be warry, though, that the use of the above-stated agents may result in the development of bile stones.

Kindly see your MD of choice for proper diagnosis and prompt treatment if indeed you have hypercholesterolemia.  (+ info)

What is the difference between hyperlipidemia and hypercholesterolemia?


Hypercholesterolemia (literally: high blood cholesterol) is the presence of high levels of cholesterol in the blood.
Hyperlipidemia is an elevation of lipids (fats) in the bloodstream. These lipids include cholesterol, cholesterol esters (compounds), phospholipids and triglycerides.
Hyperlipidemia is caused by an elevated level of any kind of lipid (fat) in the blood stream, while hypercholesterolemia is only caused by high cholesterol in the blood stream.  (+ info)

Why dont some ppl that have familial hypercholesterolemia get heart attacks?


FH heterozygotes (with meds) dont get heart attacks bcoz of the few LDL receptors but what are the other
reasons??
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Authentic article on familial hypercholesterolemia is at: http://www.nlm.nih.gov/medlineplus/ency/article/000392.htm  (+ info)

I have extreme hypercholesterolemia. Besides a genetic problem, are there any other causes of very high?


cholesterol? I asked this question a little while ago, but it was removed from the site for some peculiar reason. Four people had answered the question, but I did not receive any of those questions. So if this question rings a bell, or if it doesn't and you'd like to respond, please do. My appointment with the cardiologist is coming up soon, and I want to have this problem properly investigated rather than having the symptom treated without knowing the cause.
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Mostly hereditary and diet.

http://en.wikipedia.org/wiki/Hypercholesterolemia

Basically your liver isn't clearing the excess cholesterol out of your bloodstream. This usually happens whilst you are sleeping, this is why statins are usually taken before you go to bed at night.

http://en.wikipedia.org/wiki/Statins

There is also a genetic disorder Familial hypercholesterolemia, but this is rare and unlikely in your case.

http://en.wikipedia.org/wiki/Familial_hypercholesterolemia

Certainly everyone should have their cholesterol levels regularly tested after 40 (30 if there is a history of heart problems, high blood pressure or high cholesterol in the family) then cardiac problems due to high cholesterol levels can be avoided as the damage can be prevented.  (+ info)

Does continuous treatment of Hypercholesterolemia with statins create any adverse effect on liver?


I have been taking statins for the last 11 months for hypercholestrolemia.Will it create any adverse effect on the functions of my liver. Since I am also on treatment with anti anxiety and anti depressant drugs, my trigylceride levels are not lowering so doctor advised to take statins 10 mg per day continuosly.I do not have any liver disease.
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# Changes in liver function occur in a small fraction of people; your doctor will probably monitor blood tests to check that your liver continues to function well. If the liver function becomes too abnormal, your doctor will stop the drug. The liver is expected to return to normal function.  (+ info)

Strategies to help someone with familial hypercholesterolemia?


besides just lowering the cholesterol intake in one's diet.
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I would never take statins. EVER. But maybe nicotinic acid . A form of Vitimin B 3 . And EXERCISE> Nordic walkin' is great.

Description
Nordic walking can be done year round in any climate and anywhere a person of any age or ability might otherwise walk without poles. It combines simplicity and accessibility of walking with simultaneous core and upper body conditioning similar to Nordic skiing. The result is a full-body walking workout that can burn significantly more calories without a change in perceived exertion or having to walk faster, due to the incorporation of many large core, and other upper-body muscles which comprise more than 90% of the body's total muscle mass and do work against resistance with each stride. 'Normal walking' utilizes less than 70% of muscle mass with full impact on the joints of the legs and feet.

Nordic Ski Walking produces up to a 46% increase in energy consumption compared to walking without poles.[1]


Benefits
Compared to regular walking, Nordic walking involves applying force to the poles with each stride. Nordic walkers use more of their entire body (with greater intensity) and receive fitness building stimulation not as present in normal walking for the chest, lats, triceps, biceps, shoulder, abdominals, spinal and other core muscles. This extra muscle involvement leads to enhancements over ordinary walking at equal paces such as:

increased overall strength and endurance in the core muscles and the entire upper body
significant increases in heart rate at a given pace
greater ease in climbing hills
burning more calories than in plain walking
improved balance and stability with use of the poles
significant un-weighting of hip, knee and ankle joints
effective weight bearing exercise - creates positive total body bone density-preserving stress
I use plain old wooden sticks, works well>
Kewl!
Kitty  (+ info)

What is hypercholesterolemia and dyslipidemia?


Both refer to abnormal lipid (fat) levels in the blood. Often, these exist in type II diabetic patients.
Both diabetes (abnormal insulin levels/response) and dyslipidemia (abnormal lipid levels) can be affected and, often, to some degree controlled by diet. Left uncontrolled, both can result in profound cardiovascular problems.  (+ info)

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