Genetic Defects - GET TESTED MTHFR

I'm old enough to be of the generation that witnessed the debate over whether genetic research was "good" or "bad."  Are genetictists going too far, try to play God? they wondered.

I may have been too young at the time to really answer the above question.  Now that I'm reaping the benefits of said genetic research, I have become quite the fan.  You see, I am fortunate enough to know that I have a homozygous defect in my A1298C methylenetetrahydrofolate reductase gene.  That's right, I can use the term MTHFR all the time, and no one can accuse me of cursing, for once in my life!

It is estimated that 40-60% of the population has some sort of MTHFR mutation, yet most doctors do not regularly test for this.  If you are having unexplained health problems, this just might be the key to unlocking the source.  The ramifications of having MTHFR mutations are far-reaching in regards to overall health for pretty much anyone.  If you have chronic Lyme disease and aren't getting better, you should most definitely check this out.


A simple blood test can be run to find out if you have any MTHFR mutations.  The two associated with the lion's share of health problems are the C677T and the A1298C mutation.  A person can either test  heterozygous (less severe) or homozygous (more severe), or a combination of the two.

The C677T mutation is most commonly associated with heart disease, heart attack, stroke, blood clots, peripheral neuropathy, anemia, miscarriages, congenital birth defects, etc.

The A1298C mutation is often associated with chronic illness, such as depression, fibromyalgia, chronic fatigue syndrome, migraines, irritable bowel syndrome (IBS), Alzheimer's and dementia, addictions - alcohol & smoking,  obsessive complusive disorder, bipolar, Schizophrenia, etc.

(I know someone with almost every single ailment above.  That is one reason why I wanted to start this blog - to pass on information like this that can be relevant to just about anyone.  To all of my relatives, please get tested for this!)


A MTHFR mutation creates inherent difficulties in the body:

• The inability to methylate - that is, convert folic acid (vitamin B9) into the useable form methylfolate.  Persons are less capable of detoxing - homozygous mutations are approximately 10-30% efficient, and heterozygous are 50-70% for heterozygous.  This means exposure to pesticides, heavy metals, and other environmental toxins becomes more detrimental to the person over time.  Toxin overload can create cancer and a host of other health problems.
• The inability to break down folate properly also can lead to high homocysteine levels.  High homocysteine levels greatly increase your risk of coronary heart disease, blood pressure conditions, and dementia over time.  Homocysteine levels can also be checked in a simple blood test, but make sure you get the MTHFR test run as well, because the high homocysteine only comes with a 677 mutation.
• The inability to convert homocysteine into glutathione, which is the body's most powerful antioxidant and detoxifier.  It supports the immune system, and increases our physical endurance.  Basically, it helps keep the body young.
• The inability to convert homocysteine into methionine, which can increase chances of fatty liver disease, arteriosclerosis, anemia, and an overall increase in both inflammation and free radical damage.
• The inability to produce normal amounts of SAM-e, which is involved with breaking down brain chemicals like serotonin, dopamine and melatonin.  It is also anti-inflammatory, supports the immune system, and is involved in the repair and maintenance of cells.  Low SAM-e can lead to depression.

Because it is a genetic defect, lifelong supplementation with a methlyized version of vitamin B12 and B9 is necessary.  However, I consider it an easy fix to reap the benefits of a better-performing body that is less prone to disease!

Three types of supplementation for MTHFR defects - cream, pill, shot

Other considerations:

• Your doctor.  Let's face it, most doctors don't have time to really focus on preventative care.  There are a few tests that can be easily run that could really increase your health and longevity, such as basic vitamin D levels, omega fat panel, MTHFR mutations, etc.  Almost all of these tests were covered by my insurance, and having these results decades earlier could have really prevented a lot of problems for me.  You can do it, too - just ask your doctor to run them.  If he/she refuses, find another doctor!
• Your family.  If you have an MTHFR mutation, especially homozygous, your parents and children most likely have some sort of mutation, too.  Get them tested.  Because I'm homozygous for 1298, my children are at least heterozygous.  I have a methyl B cream that I rub on both my children to prevent them from culminating the health problems I have.
• Your toxicity levels.  If you are an adult, you have been building up toxins your entire life that your body has not been able to process.  You can get tested for heavy metals, though there is conflicting information on the legitimacy of those test results.  Either way, I recommend planning on incorporating gentle detox methods into your lifestyle for an extended time.  Remove known toxins from your home and office environments (i.e. tap water, cleaning/beauty products, metal amaglams).  Eat clean.  Consider investing in an infrared sauna.  Give your body a break, so that all those old toxins have a chance to flush out.
• Lyme disease.  I consider it to be very important for those with chronic Lyme disease to get tested for MTHFR defects.  Lyme bacteria are well known for excreting neurotoxins and holding on to heavy metals.  During Lyme treatment, all those toxins have to get dumped into your system, which causes what is called the Herxheimer reaction.  Those with MTHFR defects are going to experience more severe Herx reactions, as their bodies will not be able to detoxify properly, so basically they will feel worse and have less chance of ever recovering.

My personal experience:

I found out last May that I am homozygous for 1298, before I was diagnosed with chronic Lyme.  My doctor prescribed a special compounded formula that I injected once a week.  It gave me energy!! I thought I had everything figured out.  

Even though my health problems turned out to be more major than just the MTHFR defect, I am so thankful to have this information.  Being on those methylated B vitamins has enabled my body to detoxify like it has never been able to before.  Every morning when I wake up, I have to rinse off in the shower due to my stink.  (TMI, I'm sure, but let's be real - you let toxins out in your sweat - your skin is one of the body's detoxification systems.)

Now that I'm being treated for chronic Lyme, my body needs to detoxify more than ever before, because it's also burdened with detoxifying the die-off and metals that have been locked up by the infections.  I am sure my chance of winning the Lyme battle would be lower had I not known about the MTHFR defect.

Again, I cannot say how thankful I am for the research that went into unlocking this genetic code.  

I hope that this information becomes helpful to you or someone you care for.  Below is a list of a few of the articles I've used to research the MTHFR gene, if you are interested in learning more.  

http://mthfr.net/mthfr-research/2012/01/27/ - Impressive list of relevant MTHFR articles

http://mthfr.net/mthfr-a1298c-mutation-some-information-on-a1298c-mthfr-mutations/2011/11/30/

http://www.huffingtonpost.com/dr-mark-hyman/glutathione-the-mother-of_b_530494.html

http://doccarnahan.blogspot.com/2013/05/mthfr-gene-mutation-whats-big-deal.html

http://www.stopthethyroidmadness.com/mthfr/

Mr. Google is also an endless source of information!  Please see the disclaimer at the bottom of my blog page, because I am not a doctor - I'm just asking you to consider seeing one.


Best to you!
Jill