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I am not a doctor nor a medical professional. Everything on this post comes from my own research and conversations with other doctors, and should not be used to diagnose or treat any illness. This is not a medical article, and citing sources is the bane of my existence, so my intent for writing this is just simply food for thought.

This post is also not meant to strike fear or worry into anyone, but rather give people who are struggling with certain health issues a possibility of healing, and an ownership of ones health.

My sources for this post come from the teachings of Dr. Neil Rawlins, Dr. Ben Lynch, Dr. Amy Yasko, Dr. Katherine Erlich, and with chat’s with my pediatrician, who promotes MTHFR testing.



Hi, I am compound heterozygous for MTHFR, which mutation do you have?

This is how I feel after spending the last month researching this extremely common, yet often undiagnosed, genetic mutation. Who would have thought something with such a funny name (my doctor referred to it as the “Monday-Thursday-Friday” mutation, hence M-TH-FR) would not only be so common, but also, possibly the cause of a monstrous slew of physical and mental issues effecting us today?

I will dive into more specifics below, but two of the main concerns of the MTHFR mutation are the following:

1.      This mutation inhibits the body's ability to methylate, or convert folic acid into Methylfolate. Methylfolate is the active and usable form of folic acid, and if the body is not getting enough of this usable folate at the cell level, a dangerous cycle begins and leads to deficiency’s and a multitude of health issues.

 

2.      Our ability to detoxify is extremely hindered. Think of a revolving door…. On a daily basis, toxins are coming in, and in a normal healthy individual, toxins are also coming out. But when you have this MTHFR mutation, toxins get trapped, and will continue to build up over the years.


MTHFR, what exactly is it?

The MTHFR gene is responsible for making a functional MTHFR enzyme (yup, in case you’re wondering, MTHFR is the name of both the gene AND the enzyme). This enzyme is a key regulatory enzyme in the metabolism of folate, and the gene itself has a very important and complex role. If the MTHFR gene is mutated, the MTHFR enzyme will not function properly.

The most common MTHFR gene mutations are found at position C677T and/or position A1298C on the MTHFR gene. There other known MTHFR variant’s, but these are the most studied. Below are the possible combinations of MTHFR gene mutation.

  • Heterozygous Mutation: This is the most common and less severe of all the mutations. It means you have 1 normal gene and 1 mutated gene. The mutation will either be on the 677 or the 1298 position. The MTHFR enzyme will run at about 55-70% efficiency compared to normal MTHFR enzymes.



  • Homozygous Mutation: This means you have 2 affected genes on either the 677 or the 1298 position. In this case, your MTHFR enzyme will only run at about 7-10% efficiency.



  • Compound Heterozygous Mutation: This is when you have 1 mutation on the 677 gene and 1 mutation of the 1298 gene. This combination is more severe, due to the fact that you will have symptoms of both gene defects. 98% of autistic children have the 677 and 1298 anomaly (genetic predisposition + heavy metal accumulation).

So what is the difference between the 677 and 1298 gene mutation?

        Mutation 677 – This mutation is most commonly associated with heart disease, heart attack, stroke,         blood clots, peripheral neuropathy, anemia, miscarriages, congenital birth defects, and more.


         Mutation 1298 – This mutation is most commonly associated with chronic illnesses, such as;             depression,  fibromyalgia, chronic fatigue syndrome, migraines, IBS (Irritable Bowel Syndrome), Memory loss, Alzheimer's and Dementia, OCD, Bipolar, Schizophrenia, and more


Why is it associated with all these illnesses?

Methylation

The Methylation Cycle is the major biochemical pathway in our bodies that contributes to a wide range of crucial body functions, such as detoxification, immune function, mood balancing, and more. If one pathway is hindered, such as in the case of MTHFR mutations, other pathways which are reliant on it, will also be hindered. This will end up causing a “hindered” ripple effect throughout the entire body, and many of its processes, resulting in a myriad of chronic diseases.
For example, think of the body as a major highway. When one "lane" is blocked, this ties up traffic until it is fixed, or until there is a detour available. Although, many times the detour is not always efficient, and not only use more energy, but is also prone to back-ups and problems.

In the specific case of MTHFR mutations, the enzymes are responsible for converting folic acid into methylfolate, which is the active, and usable form of folate. Folic Acid is actually a synthetic form of folate, not found in nature, and unless it is converted into methylfolate, the body’s cells can’t use it.   The tricky part, is that this conversion from folic acid to Methylfolate is a 4-step process, and those with the MTHFR genetic defect cannot properly complete this process, resulting in a severe lack of the ever-so-important methylfolate.

As mentioned above, when one pathway is sluggish, this creates a ripple effect, and when the body is in constant low supply of methylfolate, many other functions are affected, below are two major pathways which are affected.

1.      Glutathione

When you have the MTHFR mutation, the pathway for Glutathione production is partially blocked and you have much lower levels than normal. Glutathione is the key antioxidant and detoxifier in our body, so when its production is hindered, one is more susceptible to stress and less tolerant to toxins. As we age, the accumulation of heavy metals and toxins grows, and may lead to a multitude of symptoms including disease, memory loss, rashes, premature greying hair, hair loss, social deficits, migraines, depression, anxiety, nausea, diarrhea, cancers, and more.

Also, as mentioned above, since 98% of children who are autistic have a form of this MTHFR mutation, then it seems likely there is a correlation, right? Wouldn’t it make sense that a person who cannot detoxify properly, will slowly begin to build up a dangerous load of toxins? Now, the human body is amazing, and we are pretty hardy and adaptable, some of us can get every vaccine in the book, eat a standard American diet, live right under cell phone towers, and drink tap water everyday, and not develop any major health or mental issues. But what if some of us are not so hardy due to genetic predisposition?


2.      Homocysteine and Methionine

A lack of methylfolate also hinders the multi-step process that converts the amino acid homocysteine, to another amino acid, called methionine. As a result, homocysteine builds up in the bloodstream, and the amount of methionine is reduced. The body needs methionine to make proteins and many other important compounds. It also aids many processes in the body, from breaking down histamine, seratonin, and dopamine. Thus, this defective methylation pathway is associated with psychiatric illnesses, such as schizophrenia, depression and bipolar, as well as autoimmunity disorders, ADD, autism.

Another issue involving elevated homocysteine levels is called hypercoagulability, this means your blood clots more easily than it should. This is especially a cause of concern during pregnancy. As mentioned above, there are various forms of MTHFR mutations, and some will be more serious than others as far as their ability to cause problems during a pregnancy. Although still under debate, many believe that these mutations can cause blood clots between the developing placenta and uterine wall, thus preventing transport of nutrients and oxygen to the developing baby. This usually occurs early in pregnancy when the baby is most vulnerable. Many women today who experience recurrent pregnancy loss, will be tested for MTHFR.

Elevated homocycteine is also frequently found in pregnant woman who experience preeclampsia (elevated blood pressure), placental abruption (where the placenta detaches from the uterus), giving birth to a small, low-birth-weight baby (called intrauterine growth restriction), and neural tube defect (an abnormality of the fetal spine or brain). However, there is a difference of thought on whether homocysteine levels may be a consequence of these complications, or if there is a cause........ but the link is there, and extreme importance would be made to make sure homocysteine levels are normal during pregnancy, especially those with MTHFR.
 



MTHFR Treatment:

The normal protocol used in doctor offices today for MTHFR mutations (especially during pregnancy) is to go on a mega dose of folic acid, usually around 1+mg. As mentioned above, folic acid is a synthetic form of folate, and is added to many of today's foods, and most all multi-vitamins.

The problem with this supplementation is that, MTHFR mutations are not a “one size fits all”. Those with the mutation on the C677T location, have an especially hard time converting folic acid into methylfolate, so even though you are taking such high levels of folic acid, you body cannot use it, and folic acid is useless unless it is converted into usable methylfolte. There is also controversy over whether or not unused folic acid can potentially build up in the body, which has been suspected to stimulate pre-existing cancer cells, promote inflammation, and aid in cognitive decline

So what should you take? Since MTHFR patients are defective in the conversion process from folic acid to methylfolate, they should be given pure methylfolate, which is the already converted and usable form they are deficient in. This way the defect is "by-passed".

The tricky part when it comes to methylfoate supplementation, is the the dosing. There is no standard, and since most non-integrative doctors still prescribe folic acid, it is hard to figure out proper dosing. It is somewhat a “guess, test, and revise” approach, which is not ideal of course. The key is to start out slow in very small doses and work your way up.

I have found it interesting that now many brands of multi-vitamins made especially for children with autism, will not contain folic acid, but rather methylfolate. So the connection is being recognized. There are also a few prenatal vitamins formulated in a similar manor, (such as Thorne Prenatal), since MTHFR mutations have been linked to repeat miscarriages.


Personal Experience:
I was diagnosed about 5 years ago after we lost our precious son when I was 9 months pregnant, (you can read about our sad AND happy journey in my post A New Set of Eyes).  I then received the news that not only did I have Factor V Leiden, but that I was also compound heterozygous for MTHFR. I was put on 1 mg of folic acid, and when I became pregnant, I used daily Lovenox injections and a baby aspirin. Since then, I have had 3 easy pregnancies and 3 amazing little boys. So….. part of me thinks, it worked! I will just use the above cocktail every time I get pregnant, and all is well in my world.

Well, then a couple months ago, I had to go and ruffle my feathers. I had been experiencing some unpleasant symptoms for roughly 10 months, and I was trying my darndest to figure out what was causing them. I was not sure where to start, but I knew I had this MTHFR gene defect, so I thought I would begin there. Could this be causing my problems?

Eureka! About 4 weeks ago, I figured out my symptoms were wheat related, and now that I am 100% off gluten/wheat my symptoms are 99% gone, (but that is a different story for a different time).

The damage was done. During those 4 weeks, I was researching MTHFR with every free minute I had. My mind was a roller coaster. I had no idea how major MTHFR was! My little happy world all of a sudden became a scary place with so many questions.

Is this why my sons and I have so many food intolerance's and allergies?

Are they susceptible to autism?

Am I one toxic mess?

What if I get pregnant again?

Do I take folic acid or methylfolate?

Agh, too many questions, and such a lack of answers. Then my mom brought me back to reality. “Meg, instead of going straight to the computer and diving deeper into your worries, you go straight to God first and trust in Him to take care of this”.

Bingo.

Why are mom’s always right? Looking into this stuff is scary, the internet is scary……. but ultimately we just have to be educated, live as healthy as we can, stop worrying, and trust completely in God in every circumstance.

So since my conversation with my wise mother, I am learning that this gene mutation is more empowering, than it is scary. I have learned so much, and feel confident that I have a great understanding on the best diet, the healthiest way of life, and the most useful supplements for my condition. I also got my children tested ( which came back positive for homozygous and compound heterozygous mutations), and my husband’s will be tested soon as well.

When it comes to something like this, being proactive and positive is the best medicine.
My children and I are taking our methylfolate everyday, eating well, and feeling great. We are actively by-passing this mutation everyday, and I have a feeling, knowing what I know now, this gene mutation isn't going to cause us much trouble in the future.


So what am I doing to control my compound heterozygous mutation?

  1. Continuing eating and living as healthy, natural, and non-toxic as I can
  2. Make sure my diet is rich in natural folate (leafy greens, beans, citrus, etc)
  3. Avoiding the synthetic folic acid in supplements and fortified foods, and instead, using supplements with the methylfolate and methylcobalamin.
  4. Take blood thinning precautions during pregnancy
  5. Continue to avoid dairy and wheat products. There has been speculation that there is a correlation between mutations on the C677T gene and an intolerance to these two foods. (Whether this is just speculation or truth, I know for a fact that I, as well as my son's, cannot tolerate either of these.)
  6. When not pregnant, I am going to try to find way's to make sure I am sweating every week, sweating a one of the best natural way's to expel toxins from the body. (sauna, exercise, etc)
  7. Continue juicing a few times every week, if not daily. This is great for both folate and detoxification.
  8. And as for the gigantic list of ailments attributed with MTHFR, well, I can sit around and worry, or I can live life happily, trust God completely, and never stop learning :)


Comments with thoughts, questions, and disagreements are welcome. I am hoping this post will be a learning experience for myself and all the readers. (just please keep them respectful :)


Here is an informational pamphlet by Thorne, containing valuable research regarding MTHFR.

This is an AMAZING and (long) article by Dr. Amy Yasko. It ties the whole methylation cycle together. (did I mention that this was amazing?)

Below is a 51 minute lecture by Dr. Neil Rawlins, which is broken up into 4 parts. I have found this to be exceptionally helpful and would be a great starting place for anyone looking for more information.


 


Comments

05/09/2013 1:37pm

Thank you for all of the information about this mutation. I found out a couple years ago I had the heterozygous C677T mutation after losing my son at 6.5 months pregnant. My first son was born fine but thank the Lord he was 1 month premature because he was "bleeding back to me at a rate of 7% instead of a normal 1-2%," as the doctors said. Apparently this was due to the MTHFR, and could have had serious consequences had he stayed in longer. After our loss I pushed my doctor for answers, which led to the blood test results of the MTHFR. I am now 22 weeks pregnant and the baby is growing fine, I am on 4mg daily Lovenox and baby aspirin and a whole foods based prenatal that has folate not folic acid. I contacted the March of Dimes about pushing for testing for the MTHFR as part of regularly covered tests once pregnant....I was disappointed at the response I got.

Reply
Meg
05/11/2013 7:49am

Hi Toni,

Thank you so much for sharing. First and foremost, I am so sorry about the loss of your son. I know how painful, lonely, and confusing that must have been. But I am so happy to hear you are expecting again!

It sounds like you have done your research, and how grateful I am that you are pushing for MTHFR testing through the March of Dimes. A friend of mine brought this up to her doctor the other day, and he said that in a few years, MTHFR will be a household name and testing will be routine...... I sure hope so!

Thank you so much for your story, and your thoughts :)

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Mel
06/25/2013 3:22am

HI Meg, Iv been tested for the MTHFR mutation and it has come back positive. I'm yet to c the doc (this fri) to get the exact results and what mutation i have exactly.

I am wondering what questions should i ask my doctor? as this is all very new and confusing for me.

I live on a farm in South Australia, and my husband works with chemicals on a daily basis for his work on the farm. I also use chemical cleaning products. I want to change this, as the little research iv done, chemical = bad for MTHFR sufferers.

What changes have you made with cleaning and washing clothes etc? do u make your own?

I'm also planing on following a clean eating diet which iv tried to do in the past with success for about 6 mths, but slowly went back to old habits without even realizing.

Thanks for all the time you have taken to resurch this for yourself and in turn sharing it with us all. It is very helpful indeed.

Mel :)

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Meg
06/29/2013 5:54am

Hi Mel,

Thanks for you comment, and you live in a beautiful country!

As far as the cleaning supplies. This is a great start. Vinegar is an amazing product. you can use this to do most of your cleaning (kitchen disinfecting, windows, glass, etc). Just buy white vinegar and pour into a spray bottle (dilute with water if the smell is too strong for you). For extra deep disinfecting, you can keep 1 spray bottle of vinegar and 1 spray bottle of Hydrogen Peroxide in your kitchen and use both.

For laundry, we have been using this non-toxic recipe for years.... http://www.freshideamama.com/homemade-laundry-detergent-powder-version.html

Also, besides clean eating, make sure you are taking a daily dose of methylfolate and avoiding folic acid.

The good thing about MTHFR is that once find you have it, the "treatment" is actually quite simple. You don't need meds or treatments, just a healthy lifestyle and some daily methylfolate. I wish the best to you and your family :)

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Wendy P.
07/09/2013 12:41pm

Thank you for summing up this whole process. I just found out in Friday that I'm compound heterozygous as well. I've had 2 miscarriages this year both happening in the first 5 weeks, and had one healthy pregnancy 2 years ago. I'm waiting on my doctors recommendation. Do you know of any foods that are for the b12? Also eating vegetables that are high in folic acid, do you know if our bodies are able to break them down / use them easier than the synthetic form found in vitamins?

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07/22/2013 3:27pm

Thank you SO much for this very wonderful post! This was the first post I read, as it was forwarded to me on the day I found out that I also have compound heterzygous MTHFR.

I wanted to share another great resource that I'm reading through now, that has lots of good tips on how to supplement with the 3 cell ready forms of B's that are needed for this condition:
http://howirecovered.com/active-b12-therapy-faq/#methylation

God bless, and I may link back here when I write about this on my own blog. ♥

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Amy Yardley
08/08/2013 2:22pm

Thanks for the great summary. I do however question the 98% of kids with autism being compound hetero. In my experience in networking with other autism mom's, that has not been the case. I can believe that 98% have an MTHFR mutation whether it be hetero, homo or compound hetero. Do you have a source for that statistic? Thanks and btw, my son is homozygous 677 and dx with ASD, I am compound hetero and do not have any chronic illness issues.

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Amee
08/23/2013 12:02pm

Thanks for sharing! I am grateful to learn of others experiences. I was DX with hereozygous compound about 6-7 yrs ago, due to blood clot in my brain. Ive also had one in my arm. There was not much info back then. I am pleasantly surprized how much info I have found the past couple of days. I too have had 7 miscarriages and a tubal. I fortunately have two children. Sorry for all of your losses. Physicians here know hardly anything. Has anyone had an apt with an experienced Dr? I have had chronic problems ever since I had my first pregnancy. I am looking forward to getting some answers and relief. My one child is Hereo and the other Homo. Hopefully I can get them help early so they don't have to suffer as long as I have the past 15 years. Any diet plans out there that have worked for some of you?

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Amee
08/23/2013 12:03pm

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Kate
09/01/2013 7:30pm

My husband has non-obstructive azoospermia (no sperm). We just found out he is hetero a1298c. I'm having trouble finding any information about male fertility and this gene mutation. Have you come across anything in your own research? I can't decide if its because there's no connection or if they just haven't done enough research yet. *sigh* This has been a long and lonely road.

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Sara
09/08/2013 9:10am

Greetings Meg,

I just found out that I am compound heterozygous. I have had so many ailments over a lifetime and I am hopeful that supplementation can put an end to some of these problems. The first thing my doctor wanted to give me is deplin. Now after reading up I am not sure this high dose of folate is for me . Do you recommend the deplin or just methylfolate. What brand of methylfolate do you currently take? BTW... I had 5 miscarriages. Wish I had known all this sooner!!

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Amee
10/07/2013 7:16am

I was put on the Deplin and became very upset and felt like I was going to rip someones head off, so I went off. Then I ran into all this info and told my doctor. I have now cut it in half and doing better. It is a prescription and my insurance wont cover it. Im still not feeling much different.

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Christine Carlson
09/11/2013 3:37pm

Thank you for this post. I just found out yesterday that my 14 year old daughter has MTHFR and have been anxious about it. My daughter is a dancer and healthy in general. I prayed that God would help me find some good info inline and lead me to your post. Thank you.

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Kurvee Chic
09/24/2013 7:50pm

Hey Meg,

Your post is very inspirational. My husband and I have been ttc for about 7yrs now with no success. I was diagnosed with homo MTHFR about two months ago and was very discouraged after having several m/c's. My FS has prescribed me some a daily vitamin that unfortunately is very expensive running about $75 for a monthly supply even after the insurance.

I was searching around trying and find something natural that could help me beat this disease and accomplish my dream of becoming a mother and ran across your story.

I was told about the folic acid and how my body doesn't utilize it correctly, but I was unaware of all the foods that aren't good for MTHFR. Thank you for sharing your store and providing the information.

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Raymond Partridge
11/02/2013 8:52am

Hello, my wife and I were talking this a.m. and she was telling me about this woman who has this. So I looked it up and found your website. It is very interesting and I am interested in learning more. My wife is a nurse and she is currently on Synthroid(?). Does insurance pay for the testing? Or are will we have to pay for it? Thank you for your research and for informing as many as possible. Will look forward to hearing from you on updates. Blessings.

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Kourtney French
11/25/2013 12:50am

Hi, I found your post via a google search. I recently found out I have the compound heterozygous mutation after losing my baby in August. I was curious what dose you take of methyl folate? I struggle with infertility and my doctor told me that if I am lucky enough to get pregnant again through ivf I will have to take daily injections of blood thinners as well. Did doing so make you "high risk" as far as your Obgyn was concerned? Thanks in advance for your help!

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Emily
11/27/2013 6:10am

Thank you so much for this great article, Meg! I was just diagnosed compound heterozygous as well and am printing this out to give to my family when I explain why they should get tested as well. It's such a great 'plain language' synopsis of everything else I've read.

I absolutely agree that knowing this diagnosis - when properly approached through faith and trust in a sovereign God - is actually very hopeful! I'm so grateful that I don't have to potentially suffer blindly and can instead be proactive and bypass these faulty genes! :)

Thanks again!

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Amanda Shaw
01/15/2014 4:49am

After reading many articles and studies on PubMed, NIH, etc, and looking at posts on a number of websites about these mutations, Including this one, I must say that this blog, thugh very well intentioned, has many inaccuracies and should not be relied upon for factual data.

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01/28/2014 7:34am

Thank you for sharing your story! I recently found out that I and my 16-month-old son are homozygous (C677T). I am planning to do a post about it on my website and am so glad I ran across your post. Thank you! We need to help spread the word as much as possible!!

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Tiffany
02/04/2014 1:22pm

Thank you so much for putting this post together. I was just told by a friend of mine that is going to school to become a naturopathic doctor to have this test done on my children. My question for you, besides the allergies and food intolerance's that your children are experiencing how are they growing (height wise) has this effected their growth in anyway? I ask because all three of my children have started out at 50% in height and had dropped in less than 24 months to 3% or less and we are trying to find answers as to why this is happening. I have an appt in the next couple of weeks with our doctor where I will ask her to run this test to see if they have this gene. Thanks again for putting this article together and any other help you can provide.
God Bless!

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