This is going to have to be in at least 2 parts. I am learning so much about MTHFR right now but there is far from consensus about how it is best treated and what all of it’s risks are. So this post will simply be about what most everyone agrees on. That is what MTHFR is and what it can do.
MTHFR mutation is a genetic difference that effects 30%-50% of the population. It doesn’t even seem like mutation or defect is the right word for something like that. This takes into account all of the differences that happen to the gene that makes enzyme MethylTetraHydroFolate Reductase. That this means in simple terms is the body has difficulty converting folic acid, one of the b vitamins, into methylfolate. Why does this matter you may ask? Well folic acid is an inactive form of folate. It does nothing for the body until it is converted it into the active forms folinic acid (required for some processes) and methylfolate (required for different processes). Just because it is inactive however doesn’t mean the body ignores it. Folic acid is actually preferentially absorbed from the GI track compared to the more active forms. Once in the body it will attach to the same receptors as the active forms but do nothing so it actually blocks that receptor. If you have MTHFR deficiency, you may be able to convert 10-30% of the folic acid you take in into the active forms. It used to be thought that this meant you could just take a lot more to get what you need but that wasn’t working for people. We now know that is because of the blocking action. Folic acid however is much more stable than methylfolate so food processors and vitamin manufacturers like to use it. It also does a fine job of raising your blood levels of folate. In fact some of you may have gotten a blood test for folate and b12 because you are experiencing fatigue and your results may be at the high end of the range or even above the range. That will probably lead your Dr to conclude that your exhaustion is not because of a deficiency in either of those nutrients. However, that blood test looks for all forms of those vitamins and measures them together. You might have very high levels of the inactive forms and virtually none of the active methyl forms. So while you have lots in your blood your tissues are starving because the inactive form can’t get in.
So why does this matter? Folic acid is only important for pregnant women, right? Wrong! Oh that’s right I heard it is important for heart disease too.
A short list of the conditions associated with a MTHFR defect includes
- Elevated homocystine
- Heart Disease
- Stroke
- DVT (Deep Vein Thrombosis)
- Placental Vascular Problems (stillbirth)
- Preeclampsia,
- Neural tube defects (midline defects ranging from tongue tie to Spina Bifida)
- Depression, Anxiety,
- IBS
- Fibromyalgia
- Chronic Fatigue
- Migraines
- Dementia
- Nerve pain
- Schizophrenia
- Parkinson’s
- Autism, (98% of autistic people test positive for MTHFR)
- ADHD
- Addictions
- Cancer
- Renal Failure
- Downs Syndrome
That looks like a long list but it isn’t everything. www.mthfr.net has a list of 57 conditions associated with MTHFR.
Ok you say, I’m curious. I have one of those conditions or have family members with them, how do I find out if this is at the root of it. Well that is simple, and not simple. Many insurance companies cover a test for the 2 most common mutations. I got mine run through Lab Corps and covered by my insurance. At the time of the testing I was under the impression that I was tested for all the possible mutations but now I know that there are 7 common mutations and more than 50 altogether that researchers have discovered. The first mutation, C677T, was only discovered in 1995 and the second one, A1298C, was found in 2001. These are the only two commonly tested for. It is possible to test for all of them but that is a much more expensive test and rarely covered by insurance. These mutations are being studied but it is such a new finding that there is little consensus as to how to treat people with them. One thing that is pretty clear is that the mandatory fortification of some foods with folic acid has been a detrimental thing for people with this mutation. Some food forms of folate can be used by the body without any need for conversion so eating whole foods and avoiding processed foods is essential for people with MTHFR.
Now I want you to remember back to high school biology. Remember learning about genes? You get one half of your genome from your mother and one half from your father. That means you get two copies of each of these genes. These genes don’t seem to have a recessive and a dominant component to them. It seems that each of these genes effects this function so if both of your copies have the same mutation you have a complete block of that function. If you only have one mutated copy and one “correct” copy then you will have impaired function but still better than if both were mutated. Of course having both “correct” means that those enzymes aren’t blocked genetically. It doesn’t mean that they aren’t blocked though. I’ll get to that in a little bit.
So if you get this test done your results will be heterozygous (one mutated copy) or homozygous (two mutated copies) for each of these two tested for mutations. You can have any combination of these. The more you have the more your health is impacted. There are certain health impacts associated more with the 677 mutation and some associated more with the 1298 mutation. Having both 677 and 1298 impacts your health with aspects of both mutations and tends to cause more severe symptoms even if you are heterozygous for each of them. If you are homozygous for either one it means that your parents are each at least heterozyous for that mutation. It also means that your children are going to be at least heterozygous for that mutation. We got my whole immediate family tested when this came onto my radar earlier this summer. We each tested positive for MTHFR mutations. Two of us are homozygous for 677 and two of us are compound heterozygous (one of each) for 677 and 1298.
My responce when I got those results? First “WOW!!!!” Then “Uh….. now what does this mean???” The results printout was very reassuring. It said that if our homocystine wasn’t elevated this probably meant nothing. (now I know that isn’t true). So the next logical step was to test homocystine. Everyone’s homocystine tested low normal, so I breathed a sigh of relief and stopped worrying much about it. We did do methyl b12 shots for me and the kids for a while and they seemed to have only a small benefit to health if any so we stopped them after a few months.
So why did I start looking into this again? If you will recall my post about Tongue Tie. 3 of my family members were just diagnosed with it. While looking into it I recalled a post on a message board I was on years ago that said that tongue tie is a midline defect. Midline defects are what the folic acid fortified food are supposed to prevent. People with MTHFR have trouble converting their folate. All of these ideas bubbled to the surface and resulted in me promising in my tongue tie post to talk about mthfr. I am, discovering as I research this more that it is a complicated subject! Much more complicated than I thought it was just a couple of weeks ago. And since it is still very much in the realm of current research it is unlikely that your Dr will know the absolute latest on it if he has even heard of it at all. I have read that Dr’s practice tends to lag about 20 years behind the research. (The first mutation was discovered only 17 years ago and the second one just 11 years ago. Discovery and treatment are very different things) This is not a criticism of Dr’s. They simply couldn’t possibly be continuously educating themselves on all of the current research in everything that relates to their specialty (not to mention a general practitioners!) and have time to see patients. I am just thankful that I have found a Dr who recognizes that fact and encourages me to be a partner in my health care and bring new ideas and information to the table. We work together to find solutions to this complicated quest to restore my health.
Ok so some of you have gotten this far because you are my friends and support me but you have already been tested for MTHFR and it came up negative. Why should you come back for part two of this series? Two reasons. One is you were most likely only tested for 2 of the 50+ mutations and could still have one or more that you are unaware of that is hampering your health. Two, there are some toxins including BPA that break this process in the exact same place/way that this mutation breaks it. So even if you are “perfectly normal” genetically in this area your exposure to toxins could functionally cause you to have all the same problems as someone with a MTHFR mutation. This means you will need the same interventions, at least for a while, as someone with a MTHFR mutation to improve your health. BPA is banned in baby products but that doesn’t mean it as disappeared. It is found in mothers breast milk and in infants cord blood. It is almost certainly inside of you.
This of course isn’t just about folate. There is a whole cascade of substances in the body that are blocked if you can’t convert to and from methylfolate. One of the better known ones is glutathione (GSH at the bottom of the diagram). Glutathione is created in your liver and one very important thing that it does is to help to detoxify the body from heavy metals. Interestingly enough mercury breaks the next step in the metabolic pathway after the one that MTHFR break. If you are exposed to mercury and don’t make enough glutathione then your body can’t get the mercury out. That mercury impairs the process that should make more glutathione which is necessary to detoxify the body of the mercury…. It’s a vicious cycle. Amalgam fillings and vaccines are two ways that many of us have been exposed to mercury over the years. If you don’t have enough glutathione in your body that mercury that you were exposed to many years ago is still there. It can’t get out.
My next post will include some ideas on how to proceed if you think this should be addressed for yourself or your family members.
My sources so far are
www.mthfr.net
http://heal-thyself.ning.com/ I think you need to be a member. Search under MTHFR for lots of info.
Video #1 of Dr Rawlins explaining MTHFR
Dr Rawlins site
Are you ready to read part 2? MTHFR Part 2
Ugh. I don't even want to think about this. GAPS, LOD, now MTHFR??? But my kids do have lip tie, and I have many of the conditions listed here in my family. I am DETERMINED that when I have another baby, the baby comes out healthy, needing no extra treatment for reflux. So I guess I do need to think about this. But it's very confusing.
My question, Patty, is if it's a genetic mutation, does that mean it's not our toxic society that caused it. I mean, I see you mentioned that toxins can cause us to basically have it w/o the genes, but if we do actually have the gene problem, is that just the way we are, and just the way we would have been in a natural environment? And nothing we can do about it?
Thanks,
Erin
Hi Erin,
It is not the toxic society that caused the mutation. However it is our toxic society that makes it a problem. If you don't have toxins to deal with and you always only get food forms of folate then you will be ok with most MTHFR mutations. Esp if you are in tune with your body when it craves certain things that will help you (like berries and greens that are high in folate). So it needs to be addressed for two reasons. One is the low nutrition diet we have begun eating as a society and that is coupled with our "fortification" of foods that are otherwise lacking in real nutrition to make up for what they lack. (no matter how many vitamins you put into Captain Crunch it is still junk food and bad for you). And the sheer volume of toxins that we need to deal with in our modern society. Even if you eat an exclusive SOLE diet and use only natural materials in your home you are still swimming in a toxic soup (unless you go live in a remote mountain cabin that you build out of found materials up at the top of that mountain.) And that still doesn't remove those toxins from our bodies, but simply stops more from going in. So this is important to know about and to take into account when evaluating how best to nourish yourself and your children. I also think that it is important for my children to know that they have these vulnerabilities so that they can make good decisions about their own health as adults.
I agree with eating whole foods and ones that are rich in folate. Here is the problem today and why we are seeing so many problems arise with MTHFR. Our environmental toxins. So now I need the extra methylcobalamin and folate in a supplement. When I was a child, my mother believed in vaccinations and I got an amalgam filling. There are also other sources of mercury. For example: in many mascarras and fabric softner sheets. Lead, it is in the water supply. When I was a child, my mother didn't have filters in the house. These metals eat up your active b's that you are already deficient of. Compound heterozygous is a difficult one. I've actually met a few with homozygous 677 and hetero 1298 who are triple mutated. There is lots of talk about treatment when it comes to MTHFR. I know I see that 677's need active b's and TMG along with supplements such as flaxseed oil and nattokinase because of the cardiovascular risks. And 1298's benefit from the active b's, TMG and BH4. And yes, there are 50 plus gene variants of MTHFR. I am going to contact 23andme and see if they target more than 677 and 1298. There are 2 labs in the country that do test for all variants but the price is in the thousands and is not covered by insurance. Great blog. I will post it to my MTHFR support page on facebook.
Hi Sterling. Thanks for stopping by and for your comments. I'm still trying to figure this all out myself but wanted to share what I have learned. Part 2, what to do about it is proving to me much harder than part 1 was. I would love to connect with your mthfr group on facebook. What is the exact name if it is open. I think this is a significant piece in my health puzzle but figuring out what to take and how much is proving to be quite complicated.
MTHFR support is my facebook page and MTHFRsupport.com is my website. The website is fairly new. I am trying to get it together. I know Dr. Yasko and Dr. Rawlins say that any of us with chronic lead need BH4 and they all say that 1298's need BH4. Post something on my wall on MTHFR support on facebook and I will send you tons of lectures by Dr. Neil Rawlins, Dr. Amy Yasko and Richard Van K.
Hi Patty
Great post explaining MTHFR and why everyone should be worried about it, out environment. As a society we all need so much more awareness of this issue because in the long run at the rate we are going it WILL effect everyone!
Thanks for sharing
cheers
Narelle
Regarding the question of defective genes - it also seems that genes can be damaged along the way by various factors, and with how broken our systems are, I'm not surprised that there are more genetic problems along with all of our other issues. There is also a lot of research coming out now about how diet, environment, stress, toxins, etc. can effect how genes function and manifest themselves. Such that one could have a defective gene that doesn't manifest itself as a problem, or one could have a normal gene that behaves abnormally.
It is a very interlaced complicated issue!
Thanks Jen,
Great point. I believe that for most of human history this gene configuration wouldn't have made a big difference for most people. All folate was food sourced, toxins were much, much lower than they are today for the general populace and eating nutrient dense foods when possible was the norm instead of the exception. It is like a stacked deck now. We are born into a toxic soup no matter where we live or how wealthy we are. And most people eat processed foods daily which have the double whammy of low nutrient content on their own and sometimes high levels of those man made forms of vitamins that people with MTHFR mutations can't convert into what their bodies need. And yes then you add epigenetics on top of it. What genes are actually able to do in our toxic, on so many levels, environment and it is a set up for disaster for some of us!
I just wanted to let you know that when I click on your posts from your homepage it takes me to the comments section, not the top of your post. No idea how to fix this problem (I struggle with these types of things on my blog!) but I thought you might want to know. I'm really enjoying your new blog!
Questions for you.
1.Everyone with A1298C mutation should take BH4? I'm tempted to try it but I'm nursing.
2.What is CBS mentioned on MTFHRsupport.com?
do you know of a way to find a doctor trained in treating MTFHR mutations?
Hi Jada,
I'm still learning about BH4 but it does sound like people with the 1298 mutation in particular are likely to benefit from it. I am giving it to my husband and one daughter who both have the 1298 mutation.
CBS is another part of the methylation pathway that can break. I can't remember right now if it is genetic or not. Yasko has testing for it.
Meghan,
I haven't been able to recreate this problem myself. I'll keep an eye out for it though.
My best guess on how to find a Dr trained in treating MTHFR would be go to to http://www.mthfr.net and look there. He has some listed. Also Dr Lynch does phone consultations.
I seriously considering a consult with Dr. Lynch. Ihave searched for a dcotor in my area but haven't found one that knows much about the mutation. My ND and midwives had no clue what I was talking about when I told them I had it ;/ My only concern is I've done phone consults with doctors that seem to be good but once I talk to them I feel it's a waste of time and money. Patty you think Dr. Lynch would be worth it??
Jada
Jada, I am seriously considering a consult with him too but like you I'm unsure. He sounds like he understands MTHFR and how to treat it so he may be a good person to consult for that issue. I too have done consults with people I heard were geat and been disappointed with what I got out of it so I understand where you are coming from.
Patty thanks for your input. I think I may go for it. I'll let you know how it goes if I do
Jada
Jada,
Great! Please do let me know if he is able to help you and what you think overall.
Wow! Thank you for writing this. I’ve read both part 1 and 2 and it’s a lot to absorb. With a family history of autism, midline defects, cancer and more, this sound like I should get it checked out. I’ve been researching lip/tongue ties because I would like to avoid that problem with any future children and I keep seeing MTHFR come up.
Melanie,
Sorry I’m just seeing this now. Yes it is a lot to absorb. Getting test can be part of the answer but since the common testing is only for 2 of the 50 known mutations you may get a negative result but still have a MTHFR mutation. Be sure to get your husband checked as well since any baby will have half of it’s genes from him. It isn’t just mom’s genes that effect the developing baby.
Thank you for posting this. Great article. I was just diagnosed with C677T Heterozygous in May and trying to figure it all out. I’ve had IBS, fatigue, Multitude of food allergies & digestive difficulties, ADD, anxiety, depression, hormone issues, PMS and more. I’ve read that heterozygous is often not symptomatic, but Heterozygous can be a nuisance if one has a lot of toxins and other NSP blocks like CBS or SOUX, which I suspect i have causing my inability to remove sulfur and ammonia in my body.