I observe and hear these types of questions all the time:

  • “Is MTHFR related to schizophrenia?”
  • “Is MTHFR related to itchy skin?”
  • “Is MTHFR related to breast cancer?”
  • “Is MTHFR related to depression?”
  • “Is MTHFR related to rheumatoid arthritis?”
  • “Is MTHFR related to my mother-in-law?”

Well – all except the last one (I couldn’t resist – no offense to mother-in-laws out there – I have to say my mother-in-law is AMAZING).

There is a problem with these questions.

Do you know what it is?

We’ll get to that in a second – but first – we need to understand who is thinking about MTHFR this way.

You are not the only one guilty of it.

Who is guilty of trying to link MTHFR with X, Y or Z condition/symptom/syndrome/disease/sign?

  • doctors.
  • researchers.
  • people with MTHFR.
  • people who love someone with MTHFR.
  • I . . . was. (note that I used past tense.)

Perhaps using the word ‘guilty’ is not the most accurate choice of words — it is a bit harsh.

However, I believe the word ‘guilty’ is appropriate as there are consequences for thinking about disease and SNPs this way.

We need to reframe how we think about SNPs and disease.

More importantly, we need to reframe how we think about disease, symptoms, syndromes, conditions and signs.

If we continue dissecting the entire human body into segments (cardiology, pulmonology, oncology…) , labeling patients with ‘disease’ (anorexia, depression, cancer, autism, infertility….) and ‘Which ICD-9 code do I use?’, we are never going to get long-lasting optimal health.

Thinking one-dimensionally about an isolated disease is easier than thinking about it on a multi-dimensional human body scale.

It is human nature to gravitate towards the easiest option.

Why? Conservation of energy.

When we expend energy, we are at risk of starvation and then we may die-out and not be able to reproduce.

Funny this day in age to think of this but, hey, we’re pretty hard wired and this type of thinking is what allowed us to prevail on this amazing planet for so long.

Now it is this same thinking that may kick us off this planet.

It is also easier prescribing treatments based on one-dimensional isolated thinking:

  • Dermatitis = steroid
  • Infection = antibiotic
  • Cancer = chemo
  • Asthma = steroid
  • ADHD = amphetamines
  • Infertility = hormones
  • ”Condition” = “medication” or “supplement”

As much as I’d like to debate this narrow thinking right now, I am getting off my soap box to get back to your question at hand:
“Is MTHFR related to X, Y or Z condition?”

Let’s step back.

Zoom out.

Switch your thinking.

Think multi-dimensional.

Ask this question, “What does MTHFR do?”

MTHFR produces L-5-methyltetrahydrofolate – commonly known as methylfolate, L-5-MTHF or L-methylfolate.

Methylfolate, along with methylcobalamin, helps regulate methylation.

When methylation needs more support, MTHFR produces more methylfolate.

When methylation is adequate, MTHFR slows down and preserves upstream folate. 

MTHFR is a regulator.

MTHFR is a switch.

When MTHFR is on = the body’s primary methyl donor, SAMe, is being made.

When MTHFR is off = the body is conserving upstream folate so it can use it to make DNA bases and other things.

In short, MTHFR:

  • regulates methylation.
  • regulates folate.

That is what MTHFR does.

That’s it.

When one has the MTHFR polymorphism/mutation/SNP, the function of MTHFR is reduced.

Thus, the ability for MTHFR to function optimally goes down in this situation.

One isn’t able to PRODUCE methylfolate as well if they have the MTHFR SNP.

MTHFR function is reduced – approximately – in this way:

  • MTHFR A1298C heterozygous (1 copy): 20% reduction in function
  • MTHFR A1298C homozygous (2 copies): 40% reduction in function
  • MTHFR C677T heterozygous (1 copy): 30 to 40% reduction in function
  • MTHFR C677T homozygous (2 copies): 60 to 80% reduction in function
  • MTHFR A1298 heterozygous and C677T heterozygous (one copy of each): 70% reduction in function

The reduction of function in those with a MTHFR SNP translates into potential reduction of methylation and a potential increase in upstream folate.

This means that those with MTHFR SNP’s have potential to have less SAMe production and more folate for DNA base production.

Not entirely bad – but definitely not balanced.

Learn more about MTHFR and Folate Metabolism with:
 this FREE video presentation (click here)

Now, in order to understand how MTHFR relates to various symptoms, conditions, syndromes, diseases and signs, one has to ask, 

  • “What is the consequence of reduced methylation?”
  • “What is the consequence of more upstream folate?”

When you stop and ask these questions, you can readily see that MTHFR is indeed related to vast symptoms, conditions, syndromes, diseases and signs.

So instead of asking, “Is MTHFR related to X?” ask “HOW is MTHFR related to X?”

Yes, MTHFR is related, directly or indirectly, to basically all human symptoms, conditions, syndromes, diseases and signs.

That’s a big statement.


Because of how MTHFR is connected to methylation and folate metabolism.

Methylation is directly related to:

  • immune function
  • neurological function
  • cardiovascular function
  • respiratory function
  • dermatological function
  • gastrointestinal function
  • endocrinological function

In short, methylation is related to our body’s ability to function.

And so is folate.

Next time you ask me or your doctor if MTHFR is related to X, Y or Z, stop yourself.

You now know the function of MTHFR.

(What? You don’t?! Then you didn’t read this article. Go back and re-read again. It’s all there 😉 – slooow down. Focus!)

The answer to your question, “Is MTHFR related to X condition?” is:
“Yes, MTHFR is related.”

Again, the better, more appropriate, yet difficult question is, “How?”

This is for your doctor to figure out as it is not easy.

I have entire conference recordings available to both the public and health professionals – and I invite you to learn more and empower yourself.

What I present in these conferences is the ability to think through complex biochemistry.

More importantly, I teach how the same biochemical process varies from person-to-person depending on lifestyle, dietary, genetics, environment and mindset.

Identifying the MTHFR SNP is you or your patient is a very empowering thing to do.

Yet it is the only the beginning.

A total shift in thinking and individualizing medical treatment is the future.

Taking action on something you can identify AND optimize is a huge step towards optimizing health.

I do hope this provides clarity and starts shifting your mindset about how MTHFR relates to a variety of conditions, syndromes, symptoms, etc.

Did it? Do comment below!


Here are some things which may help you:

Are you a patient?

Steps to taking action on those with the MTHFR SNP:

Are you a doctor?

Steps to taking action on those with the MTHFR SNP:

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Maria Smith
9 years ago

Awesome! Thank you, Dr. Lynch. I always appreciate your candid/frank style of writing. And this article was very easy to read and comprehend.

Thanks again!

Maria Smith
9 years ago

I’m sorry, Dr. Lynch, but would you mind clarifying the conflicting information here:
Your .pdf slide states that:

“MTHFR C677T & MTHFR A1298C Compound Heterozygous = 50% loss of function”

– but your information here in this article states that:

“MTHFR A1298 heterozygous and C677T heterozygous (one copy of each): 70% reduction in function”

I am compound heterozygous. Do I have a 50% reduction in function, or a 70% reduction in function?

Thank you!!!

Maria Smith
9 years ago
Reply to  Dr. Ben Lynch

Thanks, Dr. Lynch…but, all I have to say is, “DARN!” I was hoping the mistake would have been IN my favor. 😉

Loloma Redward
8 years ago
Reply to  Maria Smith

Sorry me to unfortunately. What a bummer!

Temisha Brown
10 months ago
Reply to  Dr. Ben Lynch

When it in loss function does it mean the percentage is hard time detoxing?

9 years ago

In response to the above comment.
My understanding is that even if your heterozygous that doesn’t necessarily mean you’re under functioning. Correct? Is there an easy test to take that would show if you’re under functioning? I’ve had my B vitamins/folate tested and they’re fine. And I also had my Homocystine tested and I was abnormally low. The doctor just said that was very good. But from my understanding that may not be good? Does that tell you whether my MT HFR is functioning or not?

9 years ago

my physician wants to see peer reviewed publishe trials/studies regarding MTHFR and I’ve been unable to find anything conclusive on pub med.

some studies showed that high homocysteine did not increase the risk of heart issues.

one showed b12 and folate assisting with depression.

but that was it ….

Dr. Aron
9 years ago
Reply to  el

Hi El – Sometimes research in PubMed can feel like searching for a needle in a haystack. You might be interested in the Depression Sessions, where Dr. Ben is one of the featured interviews. He mentions some of this research specifically related to depression. You can view them online for free starting today: http://thedepressionsessions.com/. Another idea is to consult with a physician who does not need convincing that MTHFR is important by searching the Physician Directory for a doctor who has completed training in MTHFR and methylation: https://seekinghealth.org/physician-directory/

Have you tried searching using Google Scholar? This is a great place to start to find articles in PubMed plus other directories.

Best of luck!
Dr. Aron

9 years ago
Reply to  Dr. Aron

Thanks Dr Aron – having a look around google scholar.

I’d actually like to see some research myself, as everything I’ve read so far is conflicting. Even meta studies conclude that there are conflicting results.

Having recently been quite ill in hospital, and was given the run around by many doctors and specialists before finding a diagnosis via a highly qualified neurologist, I’m very skeptical in just accepting one source of information aka. mthfr.net

I have seen one Natropath listed on the mthfr website, but she didn’t recommend any treatment.

My concern is that if there was good data available, that the specialist physician that I’m currrently seeing would know about it. He is happy for me to show him some studies, but I can’t find anything conclusive.

9 years ago
Reply to  Dr. Ben Lynch

Thanks for the reply.

I do understand your point as I’ve been recently diagnosed with dysautonomia as a result of an iron infusion – an illness with no cure and is unique to each person. Studies may offer insight, but not necessarily answers.

I’ve watched the videos etc. and have been taking methyl b12, as my b12 was measurably low. Zinc can’t be measured accurately. My folate studies showed as normal, and querying my physician on taking the 5 -MTHF, he says he doesn’t particualrly want to experiment. Which unfortunately seems to be the way it works with the methylation process.

Utah Jane
9 years ago

What does SNP stand for?

9 years ago
Reply to  Utah Jane

Single Nucleotide Polymorphism

Julie Mansfield
9 years ago

Are there other snp’s that are as detrimental to folate metabolism besides MTHFR?

9 years ago

Thank you for all your work you’ve done and continue to do. You probably don’t hear enough how many lives you’ve touched.

I’m MTHFR compound hetero and my husband is A1298C hetero. I had a lot of other mutations, as well. We tested this past March, but after reading your articles I already knew I had MTHFR before the results came in. Our son is 4 years old and has Sensory Processing Disorder and a speech delay. We didn’t test him because I can’t get him to spit enough.

He was in speech therapy since two years old; he began stuttering last December and became mute by March. I have Fibromyalgia, Hashimoto Disease, and Endometriosis; I struggle a lot with inflammation, joint & muscle pain, and fatigue. My son and I started a multi Vitamin in Nov., and by March we were both in bad shape. My muscles were so tense and joints swollen, that I could not move, especially in the night…even when my baby woke crying. It took everything I had to get up. My doctor was suspecting Lupus, MS or RA. My SED rate was high, low iron/ferritin and Vit. D. That’s when I researched and learned about MTHFR. My doctor agreed with MTHFR diagnosis, but never heard of it or how to treat it.

I noticed that my son’s face was tense when he tried to talk like my muscles from the Firbromyalgia. So, I desperately started researching and discovered your list of related symptoms and diseases. I was amazed. It was like my relative’s medical records. My siblings suffer from several serious diseases and my mom and dad both had strokes about 3 years ago from high blood pressure.

We immediately cut out folic acid, including that multi-vitamin. And, starting taking an active methyl folate and B12. I felt the best I could remember in years, but it only lasted a few weeks. Just like your article said. But, honestly, I am so tired, can’t concentrate and do everything I can to just keep up with my boys. I’m not sure where to go from here. I’ve told my doctor and my son’s pediatrician about MTHFR and your website. I must have told a hundred people by know to get tested and read your info. You are helping so many.

My son’s pediatrician asked me to print one article, the best one, for him to read. He referred us to the University and said to find a pediatrician that specializes in genetic research. But, I just don’t know what to do. Could you please refer me to the best article I could print for him.

I almost forgot to tell you. My son was mute for about a week. I cut the folic acid and gave him 400 mcg and a piece of my Methylcobalamin B12. He started speaking the next day, and the stuttering reversed itself…the long drawn out sounds, to the short repetitive, to none at all. Today, I was even thinking I would like him to stop talking for a moment so i could have some much needed quiet time. I quickly put that thought out of my head. As, I will never forget how devastated I felt from his muteness. He kept talking away. Super fast. And, loud. 🙂

I’m still trying to figure out his supplements too. I definitely notice behavior and sensory differences with too much or too little of folate or B12. Where should I go from here?

Could you recommend anything for me? I’m still randomly taking my folate and B12. But, I feel terrible. I found a doctor relatively close from your list. But, I’m not sure what to ask and look for. Are there other supplements I should take for now? Something to get me feeling well enough to be able to think and have some energy to figure this out?

Hope my story isn’t too long. I try to tell it to as many people, and get the word out. Thank you so much in advance for your help.

9 years ago
Reply to  Laurie

I have more symptoms, like a painful electric shock that just ran through my shoulder. And, my neck and shoulders are frozen stiff. I can’t even turn around. Probably from me sitting here and typing for so long. I’m sure many of these debilitating and painful symptoms will go away with getting MTHFR under control. I’ve always lived a healthy lifestyle, and felt something underlying was the problem. I really want to be able to understand this, and try to help so many others. I’ve read your articles many times, but I’m just having such a hard time figuring out what exactly to do. Thank again.

Dr. Aron
9 years ago
Reply to  Laurie

Hi Laurie – I can completely empathize with your situation. The best place to start is to get some guidance on your specific situation by working with a knowledgeable doctor. Please see the Physician Directory to find someone in your area: https://seekinghealth.org/physician-directory/.

Dr. Ben’s Starting Protocol is also a place to start: mthfr.net/mthfr-c677t-mutation-basic-protocol/2012/02/24/

All the best,
Dr. Aron

Sarai Smith
8 years ago
Reply to  Laurie

In researching methylation here and elsewhere, I have learned that you need to jumpstart the methylation cycle, the other required nutrients cannot be converted if the cycle has broken down. For me, this is what worked to do that, 800mcg sublingual methyl folate in the am: Around noon I took this 1000 mg l-carnitine fumerate, 100 mg ubiquinone co q 10, 25 mg sublingual coenzymated b6 and Adensyl B12. In my particular instance, I would get ill feeling from meat or other forms of b12 and my body needed the adenosyl version but not the other. I learned it was also essential to take a quality mineral supplement and vitamin c supplement in the beginning. I tailored the supplements to how they would make me feel. Some days I would take a break but essentially I put attn. on how my body would react to the supplements and now I only need to take the methyl folate regularly. If I feel like I am back tracking I resume the whole regime or the part I know is related to a specific symptom.

I think the biggest relief is being able to tolerate non organic food again. It has only been 6 months and while I definitely notice if I consume too many toxins, I have so much more flexibility in my life now. There is another Dr in the UK that has published his findings online. Here is a link to the website, I found it to be concise although some of the information is a little out dated and as you understand genetic expression and pay attn. to current info you will easily see what may be outdated. I would definitely refer to information from this site first as it is updated frequently but if you are looking for another source, this person has it pegged. http://drmyhill.co.uk/wiki/CFS_-_The_Methylation_Cycle

9 years ago

Ben, are you working on a book about methylation? I’ve bought one of the online courses, but would still love to have a book. I usually feel reading makes it easier to understand complicated material (is that related to MTHFR? 😉

Debbie Jess
9 years ago

I am compound heterozygous MTHFR. I have HTN and cannot take Clonidine, ARBs or ACE related to severe angioedema. I am on Metaprolol ER 50 and have been taking methyl folate and SAM-e supplements. Metaprolol interferes with epinephrine and norepinephrine. Will SAM-e supplement cause interaction or be cancelled out?

Elaine Fleming
9 years ago

Would love something on abnormally high B12 levels. Surely this can’t be from intake, 1000 mcg methyl cobalamin/day.

8 years ago

I attended MTHFR Support Australia: Introduction to MTHFR – JULY 2015
and was informed that MTHFR C677T & MTHFR A1298C Compound Heterozygous = 50% loss of function
How are these stats worked out and how significant are they. Do you have a Naturopath and or Dr to recommend in Sydney.

Dr. Aron
8 years ago
Reply to  Art

Hi Art – There is one practitioner in Sydney listed in the physician directory: https://seekinghealth.org/physician-directory/kylie-seaton/. You may want to contact this practitioner to see if she would be a good fit.

8 years ago

Good day: I feel that of my 54 years I have been strugling with my health but have kept silent, meaning not complaining just searching. At a tender age of 14 months of age I had a growth on my wrist which had to br surgically removed. When asking my parents about the diagnosis they were unable to tell me ss they were new imigrsnts to this country and were just learning the language. At 8 years of age I had emergency surgery to remove my appendix. After removel of appendix I had the courage to tell my pediatrition at the time that I do not feel right and that I sm constantly fatigued and my weight started to plummet at a fast rate then leveled off. He tested me with diet pills in my teenage years only later to find out that he prescribed amphetamines after I told him I did not feel well on the medication and I started working part time in a drug store and looked up the medication in this huge book and immedietly stopped it. I was also put on Antibiotics for years because I developed cystic Acne to avoid scars and I myself stopped it because I developed severe diareha thst lasted years. He never sent me to a dietician for the weight gain just pills. Oh at 9 years of age I developed bunions on my feet and suffered pain on a daily basis and from time to time pain in ancles and knees. All he did was send me for blood tests never knew results. I strugled in silence. When I turned 22 I woke up in the middle of the night gasping for air, rushed to ER told me I had bronchial spasms and to see Allergist ASAP. I was diagnosed with Adult onset Asthma brought on by allergies to foods and certain Animals suddenly. I was also a hairstylist at the time and described to the doctor that busy dsys working with chemicals affected my breathing. Given puffers. Struggling At this point with trying to eat right, excersizing at gym but never feeling the benefits meaning more energy ect. Just kept on trooping. Maybe this is all in my head as I did not want to complain and the doctor sugested maybe I needed to tslk to somebody. Years later I married. Had three C-Sections could not have normsl birth. Had Etopic Pregnancy. Just always strugling with chronic pai and fatigue. My spine is screwed up. I have cysts on spinal cord. I hsve Ruematoid Arthritis and now Fibromyalgia and am a carrier of Alpha 1 Antitrypsin genetic defect. I just came across your sight as I sm dtill searching never having the inner gut feeling that I am getting properly disgnosed. Ehen I take B vitamines or multivitamines I feel all loopy and dizzy instead of feeling good. I do not get it. I am now Vitsmine D deficient and have been taking it for three months 2000 units a day without feeling any differant. I am always exausted and feeling guilty for being not well and a burden. Could it be possible that I have sn underlying condition meaning what I eat does not get metabolized properly into the proper proteins ect. That my body needs to function. I feel like gumby. One doctor is looking after one part of my body and another is looking after another part and this us making me feel that I not a whole person but a broken down car. Thank you for taking the time to hearing me out. Gina

8 years ago

hello!i am from romania ! I had 2 ended pregnancys ..one with chystic hygroma and one with omphalocele! I found out that i have mthfr c67 hetero and pai.1 4g/5g hetero…caryotype was normal for both of us! Dct here told me that is nothing to worry and that i should take nothing except folic acid! I need some advice ! Is it posible that this mutations cause those fetal malformations?? Should i take anything? I am pregnant again and i am so scared ! .sorry for my english!

Dr. Aron
8 years ago
Reply to  Oana

Oana – Take a look at this article on Prenatal Supplementation. This is Dr. Lynch’s general approach that has helped women in your situation.

8 years ago

Thank you for ur answer! But i cant find any of those supliments here in romania!
I am still courious if those fetal malformations can be linked to my mthfr and pai1 condition!

8 years ago

I want to look at the underlying structure against my own genetics and labwork and fix the problems at their *source* so that my body works like a well-oiled machine. I am not at all intimidated by reading research articles or tracking down gene expression, etc., but it is so complicated. I have many mutations.. and many double mutations, but the burning questions I have are:

1. If I am mutated in this gene and (if I am able to check, my lab work confirms a problem): I take this supplement.. but what happens to x and y (downstream processes) when I do that (and how do their mutations affect how much I take of that first supplement, plus whatever other supplements I should take to address x and y mutations..).

2. If I have one mutation in a gene cluster that gives too much and one that gives too little, do I need to supplement? No idea.

I have tried the calculators, but having me taking separate supplements for each mutation without considering the whole. That scares me.

I have taken supplements blind before (such as ones my migraine specialist provided), and they have made me feel more sick.

How can I truly get my arms around this without accidentally poisoning myself or making it worse?

I feel like I need to go back to school for a bio-genetic/chemistry degree. (That isn’t a real degree, but I think you see what I mean….) When I talk to doctors about genetics they say.. we really aren’t that far yet… I’m not up on that.. all we look at is x, y, z… blank faces, condescending faces, closed faces.

I’ve spent so much time and money going from one doctor to another and getting nowhere. Its incredibly frustrating. To hear them say I need to focus less on my health makes me want to just walk away and accept my limitations.. as they are now and into the future… even though in my heart, I feel like there is an answer.. an “under the hood” answer if I could only find it.

It’s much less stressful to let it all go. To just ignore health and focus on happiness. Doctors don’t get it. And they are the gatekeepers. (Present company always excepted.)

Dr. Aron
8 years ago
Reply to  Jen

Jen – You are spot on. It is complicated. Dr. Lynch is working hard to understand the upstream and downstream effects of the interactions between genetics and the environment (e.g. everything that isn’t you) and dedicating himself to educating other doctors. The good news is, there is a lot of data reinforcing the importance of the fundamentals–sleep, diet, exercise, reducing toxic burden, and improving ones mindset and perceptions of stress. This is the foundational stuff. Dr. Lynch created his Pathway Planner that maps out these interactions with biochemical pathways. Every day he is finding new information to add to upcoming versions. I reassure you that there is hope and our team is working towards building a community of doctors who understand this. Thanks for sharing your thoughts.

B from Norway
8 years ago

Hi Dr Lynch!

Could you please confirm the 70% loss of function for compound C677T/A1298C with some link to where you read that!? Or do you asume it is since compound variant are concluded by researchers to be as severe as the homozygous T677T?

If this is true there will be those with T677T plus those with the compound variant wich have severe MTHFR deficiency in the population. It should be appr. 10% plus 20% wich is 30% total!

Then we know which 30% of the population that walks in and out of the doctors offices all the time!

7 years ago

I would love to see something about type 1 diabetes and mthfr. I can’t remember which mthfr I have right off had (if it matters, I can look it up) but nothing I do really makes me feel any different. All my labs can be in range, my doctor can be happy, but I feel no different. My labs can be wonky, completely out of range, doctor is stern with me, but it doesn’t matter to me because I feel no different. I take what she prescribes or I don’t take what she prescribes and I feel no different. She is an excellent doctor, I’m not trying to bash on her, but I just feel like something else is wrong with me or we’re not getting to the bottom of my issues. Type 1 diabetes for 17 years now, diagnosed with Hashi’s 3 years ago, then tested for MTHFR and diagnosed 2.5 years ago. Any hints, suggestions, tips?

7 years ago

Dr Lynch,
I feel like you could do a whole case study on my medical history and how each and every major condition I have ever had is related to my MTHFR gene mutation. The more I learn , the more I want to shout it from the roof tops that everyone needs to be tested- at least in my family!!!

One of the MANY medical conditions that I feel is related is how my body deals with trauma and the formation of scar tissue. According to multiple CT scans, MRIs, ultrasounds, all with and without contrast and barium, and one surgeons testimony- I have an unusual build up of scar tissue on the lining of my internal organs. This article has confirmed for me that YES! It probably is related, but now I am left wondering HOW. How did it happen, how do I deal with it, and how do I prevent further build up of scar tissue.
I am curious… Do you have any insight?

Claudia Cieri
7 years ago

Dr. Lynch,
Do you think my MTHFR and CBS might be related to my ITP (Immune Thrombocytopenia – immune system destruction of platelets)? I have been desperately trying to find a root cause instead of having to continue immune suppressing treatments such as Prednisone, Rituxan, IVIG, etc… which are causing their own very serious issues over the past 2 years.
Thank-you kindly for all you help,

7 years ago

Dr. Lynch

How does having the gene affect a person’s mitochondria? Will extreme weakness in my legs eventually get better? If I try to work-out it completely wipes me out for days.

7 years ago

Im 58 years old, i’ve have tried all the things that doctors say u should doto stay heathy… no eggs yes eggs… no butter yes margarine… coffee no coffee… yes milk no milk… yes low fat diet no thats not right anymore either,.. I have tested postive for the mthfr 2 copys of 677 I am trying to learn about it but keep thinking in the back of my head this too will change. how are we suppose to trust the medical field when it such a big money market , everyone is trying to make money on heath issues and how do i know that this is not another money making project?

6 years ago


Dear dr Lynch,

I am writing to you from Poland. I have just made genetic tests and it shows that I’m homozygotus for MTHFR – A 1298 C. Could you please give me some indications on what to do? I am trying to find a doctor to interpret those results but it is not and easy task.

Could you also tell me what are the implications of low methylation and high folic acid (26 ng/ml) and homocysteine (11 umol/l). In addition to that i suffer from: angina pectoris, ventricular arrhythmia, insulin resistance, hyperinsulinemia, hashimoto’s disease, Intestinal permeability and constant inflamation, Lumbar discopathy, pancreas and liver problems, food allergies, gluten and dairy intolerance, chronic fatigue.

What are the consequences of that to my kids. Does it mean they might suffer from those diseases as well?

I’d be grateful for any guidelines and information.

Best regards


5 years ago

hi Lunch,

Not sure if you will still read this but here I go.

We have just lost a baby who was diagnosed with T21 at 13 week, 3 days ago. This is the second pregnancy that we have that has T21 and both, confidently, boy. Below is my history:

My first pregnancy resulted in Amniotic Band Syndrome. It was a girl. It ended in week 16. Second pregnancy, a few months later, we had a healthy girl. 3rd pregnancy, everything went perfect including blood work and scan. He was then stillborn at 38 weeks. Postmortem showed that he has Down Syndrome – interestedly I was tested low risk and scan was perfect. 5 months later, I was pregnant again with girl, and again, she was healthy. Last year May we miscarried at 5 weeks, and since then we were unable to conceive again. All those previous pregnancy, we fall pregnant fairly easily. Knowing something isn’t quite right (although age might be a factor, I am 42 this year), we seek help from a few obstetricians and then finally this reflexologist whom we are seeing, mentioned MTHRF and she is also reading your book. She asked me to get tested and also recommended this OB who believes in Killer Cell. So the test came back and I am positive in both mutations, c667 and 1298, heterozygous. Anyway, the test for Killer Cell came back positive too and in the 30% zone. After being tested positive for the mutations, I was on Folinic acid, as well a pretanal supplments that has all active form of B vitamins in it, including B12 methylcobalamin. 2 months later, I was pregnant. Then during which I was on Clexane to thin the blood to suppress the high level of killer cell.

We were over the moon but something that the reflexologist has mentioned is in the back of my mind – she mentioned it takes 90 days for the supplements to work. But I was pregnant within 2 months. Anyway, at that stage, any issue abnormalities wasn’t our main concern. We thought if the baby goes past 12 weeks we will be safe.

Unfortunately at 12 week scan we found thick nuchal translucency. Percept and CVS confirmed he had DS.
Many questions pop into my mind. I know maternal age is the issue but since I know of this MHTRF I might as well research more into it. Then I stumbled across a relation between the mutation and increase chance of having pregnancy with DS… Is it because I wasn’t on the supplements for 3 cycles? Today, I also have more test done to test my Folate, B12 and Homocystein… Folate is 45, B12 is 447, Homocystein is 4… Now the homocyctein is a bit low and I still couldn’t quite understand what it will result it… all I have read is elevated homocysteine is more dangerous…..

My other question is, why both boys has DS, the girls are fine. Then after chatted to a friend this morning, suddenly something pop into my mind. To conceive a boy, with Shettle method, we have sex closer to ovulation. With girl, we try days before ovulation. With trying for girl, the egg will release and sit in the uterus for a few days before being fertilised. With trying for boy, egg will be fertilised almost immediately. So that means, for girl, the egg will have time to being further nourish in the uterus before being fertilised. That is why both boys of mine are having the issue?? Obviously these are just my own theory. The other possibility is the sperm, which is why I will be getting my husband to be tested for the gene mutation, as well his b12, folate.

As you can see I am forming all sort of theory in my head but I am determine to get to the bottom of it. I will wait 3 cycles and try again, and during which I will continue to be on the supplements, and rid of processed food, avoid plastic, no green or black tea, not apples etc. I would like to empowered myself with this knowledge because I would like to educate my girls too should they be tested with the mutations, so all these pregnancy related heartache won’t happen to them.

Thanks for reading if you are, and if you can shed some light, I will greatly appreciate.

5 years ago

i am 16 years old. after the DVT, my doctor checked c677 gene mutation and i am hetero c677. is mthfr releated with the DVT ?

Nicole Pietoso
5 years ago

Hello. I just found out I have C677T heterozygous polymorphism. What is the polymorphism? I have Schizoaffective Disorder and have been suffering without relief for 7 years now. Medications have failed to help me and I just continue to deteriorate at a rapid rate. My psychiatrist finally recommended a gene test through Genesite. They said I have “Intermediate Activity” with reduced folic acid conversion. In addition, they said I had high homocysteine levels. I see my psychiatrist this Wednesday to discuss the results and I am guessing he will put me on folate and B Vitamins. Can you explain how my Schizoaffective Disorder/Bipolar Type is directly related to my gene mutation? In addition, I wanted your opinion if I should request detailed blood work? Two months ago a standard blood test was done, which showed very high hemoglobin, MCV and hematocrit. I have been so exhausted and chronically fatigued I some days do not wake up until 5 PM. I was extremely dizzy for a month when I had this blood test done. Knowing now what I know, can all these signs be pointing to an even more serious condition? Thank you for any possible solutions and answers.

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