OT - MTHFR: ~60% of the population has condition - cause chronic illnesses
I've just recently heard about the MTHFR issue, and I still have a lot to learn. Apparently it's a "big" issue, negatively affecting peoples energy and detoxification because it impedes the bodies ability to make.glutathione.
There is conflicting information on MTFR among scientists and doctors. In my opinion Dr. Ben Lynch has some of the most reliable information on the subject. The treatment mainly involves supplementing with L-methylfolate (not folic acid which is synthetic) and natural B-12.
A brief discussion on MTFR was brought up on the iodine forum here:
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http://doctorbecky.net/mthfr.shtml
Significant decrease in ability to eliminate toxins, especially heavy metals, High oxidative stress in all body systems
Contributes to: immune disorders, allergies, autoimmune issues, fatigue, headaches, insomnia, mood issues, thyroid and menstrual disorders, kidney damage, neurological symptoms, cancer risk.
Complex disorders that usually cascade from a combination of the issues above: Fibromyalgia, Chronic Fatigue, Irritable Bowel Syndrome, Autism Spectrum Disorders, Peripheral Neuropathy, Many more issues….
http://www.youtube.com/watch?v=6ZcC94kRB5E
Jamie Horn's MTHFR Story
Discovering MTHFR & how taking Methylfolate changed my life! http://www.methyl-life.com
Essentially the vitamin processing pathways are NOT functioning properly and so your cells are trying to use defective enzymes, which can cause your body to malfunction and display a variety of symptoms and diseases. These B vitamin pathways are responsible for many foundational health processes:
1) clearing the body of toxins (making glutathionine to do this job),
2) regulating central nervous system health (making serotonin, dopamine, norepinephrine to do this work),
3) regulating cardiovascular health (reducing homocysteine levels which are so damaging to the heart)
MethyleneTetraHydroFolate Reductase
MTHFR
"Methylenetetrahydrofolate reductase (MTHFR) is a key regulatory enzyme in folate and homocysteine metabolism."
About 50% of the population has some form of MTHFR 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."
“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.”
“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.”
MTHFR: Since an estimated 60% of the population has this condition , and it is the underlying cause for many chronic illnesses, shouldn't we all be getting tested?
04/09/20132 Comments
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?
Continuing eating and living as healthy, natural, and non-toxic as I can
Make sure my diet is rich in natural folate (leafy greens, beans, citrus, etc)
Avoiding the synthetic folic acid in supplements and fortified foods, and instead, using supplements with the methylfolate and methylcobalamin.
Take blood thinning precautions during pregnancy
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.)
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)
Continue juicing a few times every week, if not daily. This is great for both folate and detoxification.
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...
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L-Methylfolate, Methylfolate, 5-MTHF, L-5-MTHF. What is the Difference!?
Those with MTHFR mutations scan labels, read websites or listen to their doctors rattle of conflicting terms for a nutrient they really need.
Understanding which form of methylfolate is best must be clear.
Why all the confusion?
Because there are so many different terms used for methylfolate.
By the end, you will understand everything you need to know about methylfolate.
More significantly – you will understand how to pick the right form of methylfolate.
Terms often used for methylfolate are:
- Methylfolate
- L-MTHF
- L-Methylfolate
- L-Methylfolate Calcium
- D-Methylfolate
- D-5-Methylfolate
- Levomefolic Acid
- Metafolin
- 5-MTHF
- 5-Methylfolate
- 5-Methyltetrahydrofolate
- L-5-MTHF
- L-5-Methyltetrahydrofolate
- 6(S)-5-MTHF
- 6(S)-5-Methyltetrahydrofolate
- 6(R)-5-MTHF
- 6(R)-5-methyltetrahydrofolate
- Quatrefolic
Are these forms of methylfolate all the same?
No.
Are any of these forms of methylfolate the same?
Yes. The same forms are grouped together here. These forms are synonymous with each other:
- L-5-MTHF = L-5-Methyltetrahydrofolate = 6(S)-L-MTHF = 6(S)-L-Methyltetrahydrofolate
- Good forms which are well absorbed
- L-Methylfolate Calcium = Metafolin = Levomefolic Acid
- Good forms which are all well absorbed
- D-5-MTHF = D-5-Methyltetrahydrofolate = 6(R)-L-MTHF = 6(R)-L-Methyltetrahydrofolate
- Avoid these (learn why soon…)
Then what are the other forms of methylfolate?
The other forms of methylfolate may or may not be 99% pure biologically active methylfolate.
- 5-MTHF
- 5-Methylfolate
- 5-Methyltetrahydrofolate
How come these may or may not be 99% pure biologically active methylfolate?
These forms do not specify the L form (or 6(S) form) of methylfolate; therefore, you do not know what you are ingesting.
The forms of methylfolate not specifying L or 6(S) likely contain more than 1% of the D form of methylfolate.
What is the difference between D and L forms of Methylfolate?
In organic chemistry, one learns compounds may have the exact same molecular formula and sequence of bonded atoms but differ three dimensionally. These compounds are known as steroisomers.[1]
...
Key Points about Methylfolate:
- Not all methylfolate is the same
- The D form of methylfolate actually is undesired and should be avoided
- The L form of methylfolate is the desired form
- There are many names for the same thing. Understand them.
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Genetic Testing: $99
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MTHFR Support is an advocate organization that supports people dealing with a wide variety of concerns, ranging from chronic fatigue syndrome, addictions, neuro-psychiatric disorders, multiple chemical sensitivities, mold issues, fibromyalgia, autism, Lyme, and many others stemming from genetic variants affecting their health.
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Find a Doctor
Holistic-Minded Physician Associations who think outside of the mainstream ‘treat the symptom’ paradigm
Critical Point: It is imperative that one must start low and work up with the potent form of folate, L-5-MTHF also known as l-methylfolate.
Many physicians receive lab results identifying one or more of the MTHFR mutations and readily prescribe 7 to 15 mg of l-methylfolate. For some, this can be life-changing in a positive manner. For others, it can be life-threatening. Knowing how one is going to respond to high doses of l-methylfolate is nearly impossible for most physicians – so it is important to start low and work up.
MTHFR is only one gene out of tens of thousands. There are interactions between genes and if one supplements with high doses of l-methylfolate, certain gene-to-gene interactions can prove very hazardous. In particular, but not limited to:
If you undergo treatment for MTHFR and you feel worse, something is not right and you likely need to step back with your doctor and re-evaluate.
Here are some resourceful articles on MTHFR for you and your doctor:
- MTHFR Basic Protocol
- MTHFR and Methylation Presentation: 1.5 hr Video
- MTHFR Mutation? So What.
- Overmethylation and Undermethylation: A Case Study
Interact with Others via the MTHFR Forum
There are over 2,000 posts on the MTHFR forum. Should you have a story to share or question to ask, do participate. There are some very insightful posts, experiences and helpful individuals here.
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MTHFR - Connecting the dots
Folic Acid Fortification, Increase in MTHFR and Rise in Autism?
Women need to supplement with L-5-MTHF and Folinic acid – not folic acid.
“In Spain, the prevalence of the MTHFR 677TT genotype has reportedly approximately doubled in the population since the introduction in 1982 of folic acid supplements for women in early pregnancy”…
“Folic acid fortification and supplement use might be “a genetic time bomb.” ...
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bromine in bread, MTHFR gene defect and methylation cycle
And another issue is that not all of us have good detoxification pathways. Phase I and Phase II issues are common and if you have the MTHFR gene defect you will not detox easily w/o intervention from outside "products" or what I call "plug in's" to the methylation cycle. I have attached the methylation chart for those who are new to this.
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MTHFR Heterozygous versus Homozygous
5-MTHF: The New Craze
Dr Ben Lynch on MTHFR Genetic Variance and Methylation
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Useful Resources
Hello!
I've prepared a useful list of resources for you - and I will continue to add to it as I find new ones.
If you find at least one which is useful and life-changing for you - excellent.
The most important resources I recommend starting out are:
- 23andMe: This genetic test evaluates hundreds of your genes via saliva for only $99. This is highly recommended as MTHFR is most likely not the only methylation defect you have. It is important you understand what the others are. In a future newsletter and article/video, I will discuss this in depth.
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- Infrared Sauna: Supporting detoxification gently through low temperature heat often and for long duration is the best way for one to eliminate toxins and chemicals. I personally obtained the 3 person infrared sauna about 4 years ago and use it regularly. In a future newsletter and article/video, I will discuss how to properly prepare and use sauna in order to obtain and maintain your health.
For the current list of resources, please visit the Resources page at MTHFR.Net:
If I am missing a resource which you find absolutely powerful and useful, please do leave a comment right at the bottom of the list - you'll see the ability to post a comment there.
In health,
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Resources
Useful MTHFR Resources along with general websites which you may find life-changing:
TOP RECOMMENDATIONS:
- 23andMe: an easy-to-do salivary genetic test which tests 1,000′s of your genes (including MTHFR) for only $99
- Genetic Genie: once you receive your 23andMe results, run your raw data through this website for a small donation (at least $10 please to support their efforts)
- Infrared Sauna: best way to eliminate toxins – in the comfort of your own home.
- Eat Wild: obtain ‘real’ food
Recommended Lifestyle Products to Obtain:
- Infrared Sauna: HighTech Health has a very pure line of infrared saunas. Dr Lynch personally uses the ThermalLife 3 person sauna. Save $500 when stating you were referred by Dr Ben Lynch.
- Water Ionizer and Purifier: used by Dr Lynch for over 12 years. Effective water purifier. Save $300 when stating you were referred by Dr Ben Lynch.
- SaltWorks: great place to get Epsom Salt – and other quality salt
- Eat Wild: a resource on where to access and purchase wild meats, eggs, dairy, berries!
- MilkShare: database of where to obtain breast milk or donate your extra supply
- Love and Logic: provides simple and practical techniques to help parents with kids of all ages:
- Raise responsible kids
- Have more fun in their role
- Easily and immediately (first use) change their children’s behavior
- Reading List: suggested books and DVD’s to further your health education from Dr Lynch
- Seeking Health: Dr Lynch’s line of health products all with methylfolate and other active forms of nutrients. No folic acid in any formulation.
- HealthE Goods: comprehensive natural health products site previously owned by Dr Lynch; provides extensive selection and health information.
- Teecino Coffee Replacement: kick the caffeine addiction and habit. Use Teecino Coffee’s instead.
Resourceful Websites:
Presentations and Lectures
Laboratory Testing
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