The MTHFR gene is a hidden culprit in heart disease and explains much in the reasons why cholesterol numbers don’t tell you what your real risk for heart disease is. Understanding how this gene defect affects your good cholesterol levels and how to treat it is essential to protecting yourself from heart attacks.
What is the MTHFR Gene?
This gene is responsible for operating what are called “methylation pathways” that involve your body’s ability to convert certain substances into their reduced or active form. If this gene is defective in your body, these vitally important methylation processes cannot be completed properly, and certain substances (vitamins and amino acids) can’t be absorbed by your body and you develop deficiencies.
Some of these substances are:
- vitamin b-12
- folic acid
In the case of b-12 and folic acid, these substances are converted to their active forms of methylfolate and methylcobalamin. These active forms are what your body can actually use, and so if you can’t convert them properly, you end up with a deficiency.
Cystiene is converted to the toxic amino acid homocysteine and then to methionine. If your methylation pathways are not working properly due to the MTHFR gene defect, then you end up with an accumulation of homocystiene which is highly inflammatory and causes damage to your arteries.
How is Your Good Cholesterol Level Affected?
HDL-C also called the “good cholesterol,” can be effectively lowered by a certain type of MTHFR gene defect called: C677T polymorphism. Since HDL is protective and lowers your risk of heart disease, this gene defect can raise your risk by lowering your good cholesterol level.
There are several variants of this gene defect, and they affect cardiovascular risk in different ways, but it’s important to be aware of their impact so that you can protect yourself. Remember that 50% of heart attacks occur in people who have what’s considered normal cholesterol levels.
The affect of the MTHFR gene is seen by many researchers as the missing piece of the puzzle in trying to determine why this is so. With this information you can go about protecting yourself by applying this new knowledge and lowering your risk not only for heart disease, but also for other chronic diseases that are caused by inflammation.
What Other Problems Can This Lead To?
A defect in the MTHFR gene can also result in increase risk for the following diseases:
How Do You Know if You Have it?
This is a very important question, because once you detect this, then you can guard against it’s effects. The most simple test you can do is to eat asparagus and note if your urine has a strong odor in the hours following your meal.
If this odor is present when you urinate, (you can’t miss it), then you can be sure that you do in fact have a defect (called a polymorphism) in the way your MTHFR gene operates. There are also lab tests that your doctor can do to detect this problem.
It may be necessary to have formal lab tests done so that this problem can be medically verified. It’s also important because your doctor has to order it for your insurance to cover it. The best and most responsible advice I can give you is to go through your doctor and get tested for this.
Fortunately there are ways to treat this problem, that will work and help to protect your health, but of course the first step is to determine whether you have it or not, and your doctor can order the tests to confirm it.
What Can I Do?
A defect in the MTHFR gene results in failure to operate certain methylation pathways and convert amino acids properly. However, forms of critical b-vitamins, vitamin B-12, and Folic acid, in their “active” forms, which means they do not have to be converted or methylated, CAN be absorbed by your body and help ensure these critical chemical reactions happen as they are supposed to.
Thus instead of taking folic acid, you would take “methyl-folate.” Instead of taking vitamin B-12 (cyanocobalamin) you would take “methylcobalamin.”
There are other substances that can help. They are called “methyl donors” because they donate or provide what’s called a “methyl group” to help the chemical reaction complete properly. There are foods that contain “methyl donors,” such as garlic, onions, avocadoes, ect.
There are also nutritional supplements such as trimethylglycine, and SAMe, as well as special formulations that contain combinations of these methyl donors to help provide what your body needs to do these conversions properly.
None of these substances are drugs, nor are they prohibitively expensive. However, most mainstream doctors do not know about them, nor about defects in the MTHFR gene, and so you may have to search for a physician that is up on the latest genetic research, that can help you safely manage this problem.
The website I recommend is:
which is a website run by Dr. Benjamin Lynch. There is a wealth of information on this website regarding methylation issues and the MTHFR gene. If you have this gene defect, I would highly recommend that you visit this website and educate yourself.
You can also click on this video:
to learn more about this topic, and start arming yourself with powerful information that will allow you to protect yourself against heart disease, cancer, strokes, Alzheimers, and other effects of methylation problems.
My reasons for delving into this topic is that it fills in the missing information that cholesterol numbers leave out. The effects of this gene defect on your good cholesterol level is probably one of the main reasons for the increased risk of heart disease.
Defects in the MTHFR gene are one of the most significant drivers of chronic disease, and by knowing if you carry this defect, you can takes very strong steps to protect your health and to live better and longer.
Cardiovasc Diabetol. 2012 Oct 8;11:123. doi: 10.1186/1475-2840-11-123.
Several genetic polymorphisms interact with overweight/obesity to influence serum lipid levels.
J Atheroscler Thromb. 2009;16(6):815-20. Epub 2010 Jan 9.
Association of C677T polymorphism in MTHFR gene, high homocysteine and low HDL cholesterol plasma values in heterozygous familial hypercholesterolemia.
J Hum Genet. 2001;46(9):506-10.
An association of 5,10-methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and common carotid atherosclerosis.