MTHFR supplements

One of the most frequently asked questions on this site is what dosage of vitamin supplements should one take to address MTHFR mutations. The answer to that is as individual as each of us but there are some guidelines put forth by notable practitioners in the field. In today’s guest post Kiki Kish* explores some of these approaches to give you a starting point. Remember that we are not doctors and the information contained in this post is for informational purposes only – you should always check with a doctor or licensed medical practitioner before beginning any sort of supplement regimen.

Supplementing for MTHFR defects requires some research as to approaches as well as some trial and error. One size does not fit all. I liken the right protocol to a favorite family recipe – everyone seems to have their own version that’s the best because they tweaked it over time. It’s the same way with various approaches to supplementing for MTHFR. Learn about them, tweak them to suit you and then perhaps tweak them again as your metabolism changes, conditions improve or as you learn more about other contributing deficiencies. I’m providing an overview of some approaches for supplementing MTHFR and some comments on common nutritional deficiencies that may have a bearing on your MTHFR protocol.

Dr. Ben Lynch’s Approach is a good and well-recognized resource of information for MTHFR defects based on Dr. Ben Lynch’s extensive experience. Dr. Lynch provides a protocol for the MTHFR defect C677T here and while he doesn’t also indicate an approach for 1298C, you can assume the protocol is the same. His general recommendation for starting out is to start with B12 for several days at low dosages, and start adding MTHF folate at a ratio that is half the amount of B12, increasing every several days until you feel better or reach the point of overmethylation symptoms. He also notes that MTHFR is not just about folate and suggests a number of other supplements (some of which you can buy on his site) as well as lifestyle recommendations that would benefit anyone. Dr. Lynch is not a fan of large doses of MTHF folate and certainly not a fan of any dose without the accompaniment of B12 among other nutrients and minerals. Like many families including mine, Dr. Lynch’s family of five all have different MTHFR defects, but he says none of them take more than 400mcg of folate per day. Accompanied by double the amount of B12, that is probably a good base recommendation for people without many health concerns who have MTHFR defects. This is similar to the basic recommendation that my local center for integrative medicine recommends of 500mcg of folate and 1mg of B12 daily for anyone with the defects.

Dr. Amy Yasko’s Approach

My previous post provided direction on how to get a number of useful reports from your 23andMe genetic data including Dr. Yasko’s Methylation Pathway Analysis (MPA). The MPA provides a good discussion of methylation, the impact of various SNPs as well as a suggested supplement protocol based on your individual genetics. If you haven’t had your genome mapped yet, you can still access Dr. Yasko’s Simplified Protocol right on the knowyourgenetics home page. Her protocol addresses methylation by first laying groundwork before starting B12 and folate supplementation. The six steps of the protocol include 1) balancing certain supplements including a multi and B complex, 2) providing other shortcut support that supports detox as toxic loads can interfere with methylation protocols 3) balancing lithium levels, 4) determining your ideal form of B12, 5) Implementing the remainder of long route support which includes titrating the amount of MTHF folate you need via drops and 6) additional support based on your particular nutrigenomic profile.

One part of her recommendations that is very important is the type of B12 that is best for you based on two particular genes, COMT and VDR Taq. This table is duplicated below.

Best Type of B12 based on COMT V158M and VDR Taq SNPs

COMT V158M VDR Taq B12 types that should be tolerated
– – ++ (TT) All three types of B12
+- (Tt) All three types with less methyl B12
— (tt) Hydroxy B12 and Adenosyl B12
+- ++ All three types with less methyl B12
+- +- Hydroxy B12 and Adenosyl B12
+- Hydroxy B12 and Adenosyl B12
++ ++ Hydroxy B12 and Adenosyl B12
++ +- Hydroxy B12 and Adenosyl B12
++ Mostly Hydroxy B12

When I first started supplementing for MTHFR, I did not pay much attention to the type of B12. Once I found this table, I tried the recommended combination and it made a big difference for me and also for my husband (COMT – -, VDR Taq ++). His recommended type of B12 is the top line of the table. I further tweaked his B12 as he seemed to do best with adenosyl and methyl. So while I’ve seen sites that have recommended that people try different types of B12 to see which works best, I’m a proponent of this table as a starting point and really appreciate the work that Dr. Yasko and colleagues put in to develop it.

The right type B12 is as important as folate. In fact, a B12 deficiency alone can cause a variety of conditions and ailments that can be as serious as the conditions attributed to MTHFR defects. For this reason, many feel the supplementation of pharmaceuticals (medical foods) like Deplin and others in high amounts without recommending associated B12 or other cofactors is a real mistake that can make many symptoms worse rather than helping.

Just a bit more about B12. There are four forms, the three mentioned in the table above as well as cyanocobalamin. Cyano has to convert to hydroxyl before it can be converted to the methyl and adenosyl forms that the body can use (these forms are sometimes referred to as B12 coenzymes). Hydroxy is supposed to have a longer half life than any other form and adenosyl is the only form stored by the liver.

Recommended Approach Based on Homocysteine Level

One of the generally understood problems of MTHFR defects is that they cause high homocysteine. Homocysteine (Hcy) is a naturally occurring amino acid that is produced as part of the methylation cycle and is an important indicator of how efficiently you are methylating. High Hcy is implicated as a factor that can cause many serious problems from heart disease to Alzheimers. Dr. Brady, author of The H Factor Solution recommends a number of supplements that work synergistically with dosages based on Hcy values shown in the table below. He believes that your Hcy level is the best indication of whether the B vitamins are doing their job as opposed to checking B12 or B6 levels for example.

Daily Nutrient Needs Based on Homocysteine Score



No Risk

H < 6

Low Risk


High Risk


Very High Risk

Above 15

Folate 200mcg 400mcg 1,200mcg 2,000mcg
B12 10mcg 500mcg 1,000mcg 1,500mcg
B6 25mg 50mg 75mg 100mg
B2 10mg 15mg 20mg 50mg
Zinc 5mg 10mg 15mg 20mg
Magnesium 100mg 200mg 300mg 400mg
TMG 500mg 750mg 1.5-3g 3-6g

When I first had my husband’s Hcy measured, it was in the very high risk category at 17.4 (and that was after supplementing him for several months with folate and B12). Four months later, after following a combination of these three approaches, it’s at 11.1. And while there is conflicting research as to whether lowering homocysteine correspondingly lower the risk of heart disease, Alzheimers, etc, he feels a lot better and I anticipate continuing improvement.

The methylation cycle has four key steps that change homocysteine into methionine, methionine into SAMe, and then SAMe back to homocysteine that needs a methyl donor so that it can start the cycle over again. The enzymes that facilitate this metabolic process need the cofactors B6, B12 and folate, the active forms of B vitamins. TMG, also known as betaine, is an important methyl donor and is included in all the protocols discussed here. Many people may be deficient in betaine due to metal toxicity, inflammation and stress. Dr. Brady considers TMG as the best (and most cost-effective) way to generate SAMe in the body, which he calls the “master tuner”. SAMe helps make or activate important neurotransmitters that can help with mood, chronic pain and food cravings. Interestingly, TMG is an FDA-approved treatment for a rare genetic condition (CBS deficiency) that causes high homocysteine because it “methylates” homocysteine, removing it from circulation.

Note that while most other approaches recommend double the amount of B12 in relation to folate, Dr. Brady’s does not. What he does recommend is that as your health improves, you may not need as much of these nutrients as you did initially and can lower your dosage. He also recommends dividing the doses of the B vitamins within the day. B vitamins are water soluble and will leave your body based on your hydration status (yep, that’s the Bs in bright yellow urine). We take sublingual B12 and folate when we wake up and after lunch. That seems to work well for us. I’ve heard some feel well dividing them into three doses. Most people don’t recommend taking them later in the evening because they are energizing and not conducive to sleep.

Why You Need More Than Folate, B12 and B Complex for MTHFR and Health

Dr. Linus Pauling, two-time Nobel Prize winner, said you can trace every sickness, every disease, and every ailment to a mineral deficiency. Without minerals, amino acids and enzymes don`t work and so vitamins and other nutrients don`t get broken down and absorbed properly and we end up with major deficiencies in both vitamins and minerals. In relation to MTHFR, most approaches concur that a full combination of nutrients works much better than any two in isolation. Many are synergistic and don’t work at all without other cofactors. Methylation can’t even take place without a magnesium molecule. B6 is converted to its active form by zinc, so a zinc deficiency would make taking B6 useless. Vitamin B6 has been shown to improve the absorption of magnesium as well as other minerals into cells. Calcium works synergistically with vitamins D and K2 and may actually be harmful if not taken with K2.

People are deficient in many vitamins and minerals due to a number of reasons and it may not simply be diet. The typical advice of eating five servings daily of fruits and vegetables is still the best, but it doesn’t buy you the nutrition that it did in the 1940s due to the nutrient depletion in the soil, the use of chemicals in farming, hormones in livestock and other factors.

Here is a list of the most common critical deficiencies:

  • All the B Vitamins, particularly folate, B12, B6 and B2
  • Calcium
  • Magnesium
  • Iron
  • D3
  • K2
  • Selenium
  • Vitamin A
  • Iodine
  • Lithium
  • Essential Fatty Acids

Most of these can be found in a good multivitamin/mineral supplement, but not all of them. Both Dr. Lynch and Dr. Yasko have multivitamin formulas, and they don’t cover all the bases. There are three particular deficiencies that deserve special mention: lithium, iodine and essential fatty acids. Most multivitamin/mineral supplements do not contain these important nutrients.

Lithium, Iodine, and Essential Fatty Acid Deficiencies

Lithium can only be found in water that comes out of the ground, so that would be spring or mineral water and not bottled water labeled as purified or drinking water. Areas that have sufficient lithium in the drinking water have lower rates of crime, homicides, mental illness and suicides and higher rates of longevity (a good discussion can be found here). I can actually go to a spring that’s about a five minute drive away and get spring water right out of the ground (find a spring near you). Water with sufficient lithium would provide about 2mg/day. A safe daily low dose is considered 3-5mg. Lithium is neuroprotective, can help with mood, inhibits beta-amyloid secretion, and also prevents damage caused by beta-amyloid protein once it’s been formed and enhances nerve cell DNA replication. This is obviously beneficial in preventing Alzheimers. Lithium also helps to chelate or remove aluminum from the body. Hair mineral tests on family members, one 19 and one 75, showed they both had harmfully high levels of aluminum indicating that they were not able to detoxify this metal. As you may recall, one of the problems MTHFR creates is an inability to detoxify things like aluminum and other metals; thus, lithium may be beneficial for those of us with the defect. I found a mineral supplement with 4.5mg and both my daughter and I felt a positive effect on mood after taking it. This is far from the amount used in prescriptions for serious mental illness which is typically 300mg.

Iodine is important for thyroid function, breast health, bone marrow, the immune system and mental health. A deficiency can cause weight gain, low energy, depression, cardiovascular disease, cognitive decline, and a variety of cancers. Most experts do not believe that the intake of iodine in iodized table salt is sufficient for good health. Selenium is synergistic with iodine helps the body absorb it. The Japanese have an average daily intake of 12.5mg from their high consumption of sea vegetables as well as fish. Consequently, the Japanese have rates of breast cancer that are 1/3 the incidence for US women. They also have a lower incidence of other types of cancer and heart disease. Iodine-deficient breast tissue also shows alterations in DNA and increases in estrogen receptor proteins. Women with fibrocystic breast disease (FBD) were given iodine in doses between 3 and 6mg and it reduced the symptoms of FBD significantly without side effects. Iodine also suppresses tumor growth and causes cancer cell death in breast cancer in cancer-prone rats, reducing tumor rates 2.5 fold. Although my local women’s hospital told me my risk was low for breast cancer about eight years ago, given that my sister was diagnosed with breast cancer at age 40, and I’ve had three stereotactic biopsies, a lumpectomy, a history of FBD along with estrogen exposure from decades of birth control plus being heterogenous C677T, I’m taking iodine. So I’m guessing when my doctor said there is nothing that can be done for FBD, I doubt she was considering possible beneficial integrative medicine approaches.

Regarding essential fatty acids (EFAs) the Omega 6 to omega 3 ratio in the US is one of the most unhealthy in the world. The average ratio in the US is 15:1 but can be as bad as 50:1. The healthy ratio is 1:1 to 5:1. A healthy ratio will reduce the risk of breast cancer, and reduce the symptoms of arthritis, allergies, cardiovascular disease and depression among many other conditions. Elevated omega 6s contribute to all inflammatory diseases. Probably the worst offender food is omega 6 vegetable oils followed by processed foods. You can fix your ratio by decreasing the omega 6 foods and increasing the omega 3 foods like the oily fish in these recipes, certified pure fish oil supplements containing DHA and EPA, or other foods such as flax, walnuts, cauliflower, brussel sprouts, broccoli, squash and collards. In doing some research on this important ratio, I downloaded a not very user friendly tool called Kim. I tried to input my diet in numerous ways but could not get my ratio down even when eating salmon three times a day. But by adding 1 Tbl of flax oil, my ratio was in the optimal range. So 1 Tbl of flaxoil, preferably organic or ground flax seeds (which go great in oatmeal) is going to have a positive effect of your ratio of these essential oils. I think of EFAs as a brain lubricant and just as important to your brain as oil is in your car. Your brain is the fattest organ in your body, comprised of 60% fat, so make sure it gets enough good fats!

For people with MTHFR defects, the minimum supplements recommended by the approaches reviewed here are folate, B12, B6, magnesium, Zinc and TMG. Due to the positive synergistic effect of all the vitamins and minerals on the B vitamins, the best approach would be to make sure you don’t have any deficiencies by taking a good multi, supplementing to improve your ratio of EFAs and consider supplementing iodine and lithium. Like the advice of Linus Pauling, avoiding these deficiencies would go a long way in avoiding most diseases and improving or resolving many adverse health conditions.

Always add supplements one at a time slowly to assess your tolerance and remember that methylation is a critical metabolic process. Always check with your doctor or a qualified practitioner before starting any methylation related protocol.

About Kiki Kish*

In 1992, my husband, 24 years my senior, was diagnosed with Hepatitis C. Hep C is a serious liver disease without a cure, so I explored alternative medicine. Now at 75, he is the poster child for transplants and health with Hep C, mostly because I became a self-navigating nutritionist, naturopath and now a budding nutrigenomist. In 2001, my son was diagnosed with Autism. Same thing, no cure, but I used supplements and nutrition; he’s in college making As and Bs. These two situations along with a parent with cancer caused me to do two decades of research on alternative therapies. I was often asked if I was in the medical field probably because I did my research to try and make sure that the doctors were doing a good job. I had problems for which I was prescribed medication, but the doctors, as usual, didn’t discuss what might be causing it. I determined I had a histamine intolerance problem, and in researching that for myself, I found that compromised methylation could be a cause. That led to MTHFR (I’m heterozygous for 677C). Once I did the research on it, as an engineer (M.S), I found the statistical prevalence of the defect and the risk of problems and diseases it causes or contributes to astounding. Everyone in my family as well as those in my extended family who have been tested have the defect and have many related conditions. And that’s how I arrived here. 

* Name has been changed to protect privacy.

If you have a comment that is related to your own health or have questions that require an answer, please leave these in the community discussion forums and not in the comments below. Thanks! =)

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So many of our readers are dealing with challenging fertility issues that are related to their MTHFR mutations. Today we have wonderful guest post from nutritionist Aimee McNew, who also has personal experience with pregnancy loss. She will share with you practical steps you can take to diagnose and overcome your challenges in getting and staying pregnant. This may include going beyond MTHFR.

Pregnancy loss is devastating no matter what the cause, but it’s especially difficult when it happens again and again. With so many factors that can contribute to miscarriage, it’s hard to nail the reason down to a single cause, although MTHFR can certainly be a contributing factor. So what do you need to know, as a patient, to help prevent future pregnancy loss?

mthfr recurrent pregnancy loss

As a nutritionist who specializes in fertility, I work with women who want to have kids. Sadly, I also work with a lot of women who haven’t been able to have children or who have suffered miscarriage. I wish I could say I didn’t know what it’s like firsthand, but I can’t, because I recently lost my seventh pregnancy. I’m compound heterozygous MTHFR, along with other genetic and autoimmune factors. While no two women may face the exact same set of genetic or health factors when they’re trying to assess what’s causing their miscarriages, there are a number of ways that patients can advocate for themselves. I know, because I had to do my own research and make special requests from my doctor. I wasted many months, and lost several pregnancies that may have stood a chance if I’d only known more before I’d gotten pregnant. Either way, I want to give you the best chance to discover why
you’re having miscarriages, and how you can move forward armed with the best odds for success.


If you’re a regular reader of this blog, you’re well aware of how MTHFR can affect the body, including being a contributor in recurrent miscarriage, infertility, and birth defects. But you’re also probably somewhat aware of how to address it: methylfolate, methylcobalamin, a whole foods diet, etc. Typically these are the first things to be changed when a patient discovers that MTHFR could be contributing to their pregnancy loss. When I learned I was compound heterozygous, I tossed all supplements that contain folic acid, figured out an appropriate supplement program for me, and started on baby aspirin at my doctor’s suggestion. That, my doctor thought, was more than enough to “fix” my MTHFR problem. And then I had another miscarriage.

More Than MTHFR

While MTHFR gets a lot of buzz, there are a lot of other genetic mutations that can wreak havoc on the body’s ability to successfully carry a pregnancy. This is still a relatively new field of research, so sometimes the volume of information isn’t readily available. I started by getting a 23andMe test done, and then plugged it into the Livewello app to get some feedback on my genetic mutations. Since I’m a nutritionist, I was able to delve even further into my research and then spoke with my doctor about my findings. Not only do I have MTHFR, but I also have more than a dozen other mutations that deal with methylation. I have several mutations that are related to excessive clotting within the body, too. I spoke with my doctor about my concerns and my research, and she agreed to run some additional tests that 23andMe didn’t cover. These included Anticardiolipin antibodies, Lupus Anticoagulant, and PAI-1 4g/5g. While I didn’t test positive for the Lupus Anticoagulant, I did for all the others.

If you’ve had one or more miscarriages, I recommend getting the same testing done
that I did, as well as a full thyroid panel (including free T3, free T4, and Reverse T3), homocysteine, glucose, prolactin, and the standard cycle day 3 bloodwork to assess reproductive hormone health (estradiol, LH, FSH, and AMH). Progesterone should be checked around 7 days after you have ovulated. On that same note, I highly recommend tracking your cycle with a fertility app or calendar (I use Fertility Friend) so that you can give your doctors as much knowledge as possible when they’re trying to help you. You can use ovulation predictor kits, but you don’t have to. The book Taking Charge of Your Fertility is the gold standard for learning how to chart, and I highly recommend it. I didn’t start paying attention to any of these things until after my second miscarriage when I started to deduce that there was a problem. Get ahead of the curve because, in fertility, knowledge is most definitely power.

What Should Your Doctor Know?

As I said before, I had to approach my doctor with my concerns after doing a substantial amount of research. Some doctors will be very proactive and will order these tests before you can request them, but the majority aren’t going to consider miscarriage a problem until you’ve had at least three clinically documented ones. Early losses often don’t “count” to the medical world, since they can’t be verified by ultrasound, and yet, a large majority of miscarriages happen before six weeks gestation.

Not all doctors are created equal when it comes to addressing fertility problems or
even MTHFR, so you’ll want to find a doctor who (1) understands the connection between MTHFR and pregnancy loss and (2) has a game plan that involves more than baby aspirin. Yes, baby aspirin alone can work for some, but in many cases more intervention is necessary. I read study after study that showed correlation between heparin injections and a 54% reduced risk of miscarriage in patients with a history of recurrent pregnancy loss. I pressed my doctor, an OB, to give me the heparin along with the aspirin, but she was reluctant to prescribe it due to my history of miscarriage (fearing that I would hemorrhage if I had another miscarriage). I was frustrated, thinking that I was sure to have another miscarriage if I didn’t get the heparin, but she persuaded me that my odds were good on baby aspirin and progesterone alone. Even so, I had another miscarriage.

It’s important to find a doctor who will be proactive, not reactive. I began seeing a new doctor who laid out an entire plan and gave me his personal success rates with patients who had similar genetic and autoimmune disorders like mine. I didn’t have to request anything, including heparin, progesterone, and prednisone (a steroid medication thought to help calm autoimmune reactions that can terminate pregnancies). While not every doctor is going to immediately lay out a plan, you should feel confident that your doctor will do everything that he or she possibly can to help prevent future losses. This largely boils down to philosophy and how up-to-date they are on current research.

Self-Care Tips For Surviving Miscarriage

Whether you’ve had one or many miscarriages, they’re traumatizing and heartbreaking. Even if you find a doctor who can help to prevent future losses, to the best of their ability, it’s still going to take time to heal from what you’ve already gone through. Finding a new treatment plan often isn’t enough to heal the wounds or grief.

After going through seven different miscarriages, all of them somewhat different from the last, I have nailed down a few key areas where I now know how to take better care of myself.


Right after I’ve gone through a miscarriage, diet is the furthest thing from my mind. I tend to indulge in things I don’t normally allow myself on a fertility diet (read: lots of sugar), and generally give up on caring how many vegetables I eat. But this can only go on so long before it starts contributing to depression and other negative factors. I always give myself grace after a loss for a few weeks, sometimes even a month, but after that I pick myself back up and the first thing to prioritize is nutrition. Miscarriage wreaks havoc on hormonal balance, and the fastest way to overcome depression and rebalance the reproductive system is to support it with the proper nutrients. This is best done by eating plenty of green vegetables, fruits rich in antioxidants (like berries and apples), nuts and seeds (for minerals), and salmon (for good quality fat). Your diet doesn’t have to be pristine to make a difference, either, so just start adding one or two good-for-you items each day. Drinking plenty of water is essential, too, as it’ll help your liver flush toxins from your body and break down hormones.

Mind/Body Health

Of course miscarriage traumatizes much more than the body, and I have found it essential to address all areas of my mental and emotional wellbeing after a pregnancy loss. For me, this has meant regularly seeing a counselor who understands infertility and writing in a journal. I’m a writer, so naturally, I express myself in words, but even non-writers can greatly benefit from putting their thoughts on paper (or the computer screen). Miscarriage can attack a woman from every direction, including self-worth, work life, personal relationships, and even spiritual relationships. It’s essential to realize that you’re not alone in what you’re feeling. One of the greatest things I could have done for my mental and emotional health after pregnancy loss was to reach out to others who had gone through it. This primarily happened via social media, and I’ve since developed strong friendships with women who really get the difficult walk that pregnancy loss and infertility really is.

Physical Wellness

It’s easy to want to forget exercise in the wake of a loss, and again, for a few weeks or a month after a miscarriage, I wouldn’t do much of anything. But choosing to prioritize physical health can help to stave off depression, rebalance hormones, and perhaps most importantly, release endorphins. Endorphins are chemicals in the body that connect with receptors in the brain to help reduce a person’s perception of pain. So exercise can actually lessen the impact and severity of post-miscarriage grief and can speed the time to healing. Exercise doesn’t have to be long or intense to be beneficial, and in fact, I’ve found the greatest post-miscarriage benefits from taking brief walks (15 minutes or less) and doing 15-20 minutes of yoga or Pilates. Whether you do something once a day, or a few short workouts throughout the day, you’ll be contributing to your physical, emotional, and mental wellbeing.


Nothing really can make miscarriage easier, but knowing how to advocate for yourself through the process can restore a sense of hope, as well as support the healthy process of grieving.

If you’ve suffered a miscarriage or many, consider asking your doctor to run the
tests I mentioned above, listed here for your convenience:

Anticardiolipin Antibodies
Lupus anticoagulant
PAI-1 4g/5g
Thyroid panel including free T3, free T4, and Reverse T3 – Homocysteine
Cycle Day 3 Bloodwork: Estradiol, LH, FSH, AMH
7 Days Past Ovulation Bloodwork: Progesterone

Depending on your results, it may be appropriate to ask your doctor to prescribe heparin, baby aspirin, prednisone, progesterone, or one of many other supportive medications or supplements. You should find a doctor who you trust to be proactive for your health. Track your cycle with a fertility chart, and ultimately: don’t lose hope. Even when odds look grim because of genetics or autoimmune disease, there are still many out there who defy the odds. Living a lifestyle that supports your own set of genetic and health needs, and keeping a positive outlook, will give you the best chance possible to conceive and carry a healthy pregnancy.

Seeking Health - Optimal Prenatal - 240 Vegetarian Capsules

About Aimee McNew

Aimee McNew
Aimee McNew, MNT is a certified nutritionist who specialize in women’s health and fertility. She runs a private practice and maintains a blog devoted to nutrition for women. She lives in Indiana with her husband and Gracie, their adorable Boston Terrier. You can also find her on Facebook and Twitter.


If you have a comment that is related to your own health or have questions that require an answer, please leave these in the community discussion forums and not in the comments below. Thanks! =)

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Thanks to those of you who reached out about our new guest post program. Today we have an excellent piece for those of you trying to figure all of this out on your own. Kiki Kish* will be doing a series of posts about her experiences and knowledge as a MTHFR patient, starting with this guide to genetic testing and what to do with the results.

armchair geneticsI remember hearing about the Human Genome Project in the news around the time it was completed in 2003. Did I ever think how it might impact me and that I’d be able to get my whole genome mapped at my fingertips for my personal use to improve my health and that of my family? Of course not.

Well now you can get your whole genome mapped and find out what it means from the comfort of your favorite chair. The fact that lay people can do this and figure out what genetic anomalies we have, how they affect us and what to do about them is really a crazy testament to the modern times we live in, the power of computers and the utility of the internet. We’d prefer to consult with our doctor about it, but the reality is that most are no more up-to-date on it than we are. Practitioners or doctors who know something about genetic problems like MTHFR, the impact of compromised methylation, and how to treat it are hard to find. Thus, some of us choose to self-navigate this very new area of genetics for the common man.

I have been self navigating this kind of thing for two decades. As a self-navigator, nobody is going to spoon feed you; you have to do your homework to learn about it, and decide, perhaps through experiment, what the most effective treatment protocol for you will be.You’re into methylation now. It’s as individualized as you and all your thousands of genes are.  While you may feel that grasping this type of information is beyond your capabilities, remember, knowledge is power. Take what you find and learn about it. Take it to your doctor and ask for her help, but learn about it first. They really should be looking at this anyway because in a few years, they will be dinosaurs if they don’t understand the information that is easily available to their patients. The best use of this information particularly in relation to methylation is in prevention of diseases as well as ameliorating conditions we already have. But it’s also possible to nip in the bud a disease process that has already started. One person used this information to find that a family member had a very high risk of lung cancer, and upon scanning, found three tumors for two different types of lung cancer. My uncle just passed away this year to lung cancer. He never smoked and ate an apple a day.  I suspect he had an MTHFR defect but maybe he was just high risk for lung cancer. Mapping his genome may have shown that.

Back to self-navigating.  How do you get your genome mapped?  By using 23andMe or similar services. 23andMe provides ancestry-related genetic reports and uninterpreted raw genetic data. For our purposes, we want the uninterpreted raw genetic data. It’s a real bargain at $99. There are many other companies that provide interpretation of some small subset of your genetic data charging hundreds or thousands of dollars. To get your own genome mapped, go on the 23andMe website and order their kit. The kit is sent to your house; register it, provide a small saliva sample in a test tube, close it, shake it up, pop it back in their mailer, and in about two to three weeks, they’ll send you an email that your results are available. I don’t think the process could be any easier.

Then what?

There are a number of what I call genetic engines that you can run your DNA genome through to get useful reports that will help make sense of your genetic information and will also help you understand methylation better. Some of them will be able to access your data at 23andMe (with your permission of course) and with some, you will have to enter the data yourself. Here are four that I have found and a bit about them.

Genetic Genie

Genetic Genie is a non-profit site that will access your 23andMe data and produce a short but useful Methylation Profile report customized to the SNPs (single nucleotide polymorphisms or your genes) that they feel are most relevant. Like all the reports, the homozygous mutations are red (two defective genes), the heterozygous are yellow (one defective gene) and those genes that are normal are green. The explanations are good and while an insider told me that their engine is a few years old, it conveys what others say in a brief way that isn’t overwhelming in seven pages. They analyze 26 different genes, those of most concern with regard to methylation and related problems. The report is free with a suggested donation via PayPal of $10. Yet another bargain.

Know Your Genetics

This site is based on the extensive work of Dr. Amy Yasko. Although she didn’t intend to study autism, her work is really leading edge with regard to the treatment of it. I researched autism for my son back in 2000 and found her work extremely helpful. This site will take your manually input genetic information and provide a detailed report on your SNPs to recommend supplements that are categorized as general methylation support and also those that are specific for the individual SNPs that may be problematic. If you run the report from GeneticGenie you will have most of what you need readily available and the rest you can look up in your raw data on 23andMe (login to 23andMe, click on your name in the top right hand corner, and click “browse raw data”). Once you input your 20 SNP results, you can generate a Methylation Profile Analysis. This report is extremely informative, it’s about 56 pages long, and the list of supplement recommendations is extensive, with links to Dr. Amy’s site where the supplements are available. While the supplements listed in the report may seem overwhelming, they are broken down by basic methylation support and then recommendations for the individual problem SNPs so that you can consider the supplements based on the problems you feel are important.

The report contains a useful table that recommends the type of B12 to take based on two SNPs, COMT and VDR Taq.  This is incredibly useful because B12 and the right type of B12 based on your personal genetics is as much of part of your personal methylation therapy protocol as taking MTHF folate. There are four (yes four) types of B12.  More on that in future posts.  But the coolest and most useful thing about Dr. Yasko’s sites is that any questions you have can be answered in their discussion group at  You can ask questions here and there are very knowledgeable people who will answer your questions. You may get seven slightly different answers, but if you are self-navigating, you will have to take the information and disseminate it yourself. Not a problem, you can always ask more questions. Many of the people on this forum put their SNPs of concern in their signatures. I’m sure they were all once newbie self-navigators, but are now further on the learning curve. One woman who answered my questions had 20,000 posts answering other questions. She seemed quite knowledgeable.


This engine will also access your 23andMe results in order to generate a report. This report costs $20, another great deal! Nineteen pages of over 200 SNPs are nicely separated into several categories like thyroid, detox, methylation, clotting factors, celiac, mitochondrial, allergy and others. This report shows you what the risk allele is and which alleles you have. Another nice feature is that you can click on the SNP in the report and go straight to SNPedia (like the Wikipedia of genetic info) where you will find information on the gene as well as many studies on that particular gene related to the condition of concern. So if you observe that you have a number of anomalies affecting one category, you could go and read perhaps a dozen or more research studies on the problem and gain further understanding.


Promethease provides very detailed information about your risk factors for many conditions as well as your interaction with about 100 common drugs. They report the good news and the bad news, your likely interaction with about 100 common drugs as well as numerous conditions and other things that have basically not been researched much yet. Warning: knowing your risk for everything under the sun based on current research can be unsettling, but it can also be quite interesting and useful and is only a modest $5 (make sure to download your Promethease data as it will only be on their servers for 45 days). There is a video on their homepage that explains how to download the report, unzip it and navigate it.

As an example of the information Promethease provides, one of my family members (male) has this BAD NEWS: is seven times less likely to respond to certain antidepressants, 6.2 times increased risk of developing prostate cancer, 4.5 times increased myopathy risk (for statin users), but has this GOOD NEWS: reduced risk of male pattern baldness, 10 times to 27 times lower risk of exfoliation glaucoma, greatly increased memory performance, 1.5 times less risk for physical impairment with age, and one copy of the longevity gene.  Promethease ranks the conditions in order of import (a subjective measure), tells you how many references there are (studies that found that same thing), and the frequency with which it appears in the general population. It also tells you which conditions you have a normal risk for, which is comforting.  A description and examples of the report results may be found here.

This kind of information can be overwhelming, but you have to consider again that knowledge is power. If I knew I had a significantly increased risk of something, I would do what I could to prevent that and also make sure I was monitored by a doctor for that condition. In 2007, my husband had an awful treatment for Hepatitis C (Interferon/Ribavirin). This treatment seemed to age him 15 years, and he lost 40lbs that he didn’t need to. It was probably hard on him partly because he is MTHFR heterozygous for both 1298 and 677 and did not tolerate the toxicity of it. Had we known that he had an impaired ability to handle toxins and was unlikely to have a response to this treatment, he would have never undergone it. Promethease actually addressed this treatment noting “ rs12979860 – less likely to respond to Hepatitis C treatment PEG-INF-alpha plus ribavirin”. Before that treatment, he was chopping wood in a manly fashion. After the treatment, he wasn’t chopping wood at all, but he’s progressing quite well on his methylation protocol, so who knows.

The only areas of medicine that I know that seem to be using this genetic information in a useful way is to tailor treatments like chemotherapy and medications such as those for mental conditions (finding who will and won’t respond to certain medications). I’m sure there are other areas, but it really needs to reach the mainstream, our primary care doctors, radiologists, dermatologists, rheumatologists – all of them. All doctors could be using it to help with diagnosis, medications and treatments. Educate yourself, use the information to benefit your family, and try and spread the word to get others on board. Whatever problem you have, improved methylation will help it.

Methylation is a critical metabolic process.  Always check with your doctor or a qualified practitioner before starting any methylation related protocol.

Notes:  Prior to November 2013, 23andMe (and similar firms) provided health reports along with your mapped DNA.  They are now prevented by the Food and Drug Administration from doing so.  Here is one report of why:

About Kiki Kish*

In 1992, my husband, 24 years my senior, was diagnosed with Hepatitis C. Hep C is a serious liver disease without a cure, so I explored alternative medicine. Now at 75, he is the poster child for transplants and health with Hep C, mostly because I became a self-navigating nutritionist, naturopath and now a budding nutrigenomist. In 2001, my son was diagnosed with Autism. Same thing, no cure, but I used supplements and nutrition; he’s in college making As and Bs. These two situations along with a parent with cancer caused me to do two decades of research on alternative therapies. I was often asked if I was in the medical field probably because I did my research to try and make sure that the doctors were doing a good job. I had problems for which I was prescribed medication, but the doctors, as usual, didn’t discuss what might be causing it. I determined I had a histamine intolerance problem, and in researching that for myself, I found that compromised methylation could be a cause. That led to MTHFR (I’m heterozygous for 677C). Once I did the research on it, as an engineer (M.S), I found the statistical prevalence of the defect and the risk of problems and diseases it causes or contributes to astounding. Everyone in my family as well as those in my extended family who have been tested have the defect and have many related conditions. And that’s how I arrived here. 

* Name has been changed to protect privacy.


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