Is there hope for MTFHR polymorphs?

Is there hope for MTFHR polymorphs?

These conditions are associated with MTHFR genetic mutation in research: Several can be considered a genetic disorder since treating the mutation will resolve the illness. There continues to be correlations of health problems with MTHFR that are not mentioned here.

Atrial Fibrillation ALS
Alzheimers Anemia
Anxiety Arthritis
Autism Bipolar disorder
Blood clot Breast Cancer
Chronic Fatigue Syndrome Colorectal Cancer
Connective Tissue Disease Diabetes
Down Syndrome DVT
Epstein Barr Virus Fibromyalgia
Gluten intolerence Heart attack
Heart Murmurs Heavy metal toxicity
Hemolytic anemia High homocysteine
Homocystinuria Hunnington’s
Infertility in both men and women Insulin resistant diabetes
Leukemia Lupus
Meniere’s Disease Migraine
Miscarriages MMA
Multiple Chemical Sensitivity Multiple Sclerosis
Myalgic encephalomyelitis Neural tube defects
Neuralgia Non Hodgkin Lymphoma
Panic Attacks Parkinson’s
Post eclampsia Pre eclampsia
Pulmonary Embolism Retinal Vascular Occlusive Disease
Schizophrenia Spina bifida
Stroke Thyroid disease
Tongue Tie Vaccine Injury

What is gene mutation, MTHFR (methylenetetrahydrofolate reductase)?

Explanations for MTHFR can get very complex so let’s try to keep it simple. 

The –ase tells us that it is an enzyme.  This enzyme is at the center of the activity of so much of your biochemistry, from turning homocysteine into methionine, making the most important antioxidant in your body, glutathione and converting neurotransmitters like dopamine that will affect your mood.  The enzyme also makes the active form of folate, called methylfolate.  The active form of folate is able to get around the body better and it the only form that is absorbed in the gut properly and can adequately be used in the brain.  As you can see, being able to make methyl-folate is very important for nervous system function, growing babies and much, much more. 

The two little sections that code for the enzyme are known as MTHFR c677t and MTHFR a1298c.  If we remember back to biology class, there are two letters that determine outcome of a particular trait in the punett square.  Capital letters general indicate the wild type or normal variant of a gent.  Little letters indicate a mutation.  Two of the same letters indication homozygous and one of each indicates heterozygous.

AA Homozygous

Aa  Heterzygous

aa  Homozygous

The MTHFR section of the chromosome in a gene test with normal variants of amino acids should looks like this:

C677C   A1298A

It is possible to have 1 or 2 gene mutations between these 4 amino acids.  We will use DNA below.  Some tests done by saliva use RNA so the amino acids are different. 

One gene mutations or Heterozygous MTHFR:

677: CT   1298: AA   This is heterozygous 677. 

(One cytosine amino acid has been changed to tyrosine and reduces the ability to make the enzyme by 30%.)

677: CC  1298: AC  This is heterozygous 1298.

(One adenosine amino acid has been changed out for a cytosine reducing the enzyme being made by 30%.)

Two gene mutations or Homozygous MTHFR:

677: TT   1298: AA   This is homozygous 677.

(Both cytosine amino acids have been changed to tyrosine which means this is only 30% chance or so of making the correct coding for making the enzyme.)

677: CC   1298: CC   This is homozygous 1298.

(Both adenosine amino acids have been changed to tyrosine which means this is only 30% chance or so of making the correct coding for making the enzyme.)

677: CT   1298: AC   This is compound heterozygous.

(One cytosine has been switched and one adenosine has been switched in each gene.)

What does it mean?

Simply, this genetic mutation decreases the ability for your biochemistry wheels to spin.  Throughout our bodies we have ferris wheels that are used to turn one molecule into another.  The enzyme is like the worker who loads the ferris wheel.  Without adequate enzymes the ferris wheel doesn’t turn or gets clogged up and you can end up with a crowd of people in one section of the ferris wheel or a crowd of metabolites who cannot go the next step.  This crowd of metabolites can cause symptoms- a myriad of symptoms that are endless.

MTHFR is at the center of your biochemistry wheels and interact in so many wheels conIf you are positive for a MTHFR mutation or polymorphism, it means that your body has less enzyme to help those biochemistry wheels turn and less active folate or methylfolate being made.  If you are not able make active folate, it can clog up the gears causing many of the common symptoms of MTHFR.

MTHFR disorders are treatable.  I find 80% of patients improve immediately with the right treatment.  MTHFR is one of the most satisfying conditions that I treat because patients get so well when their treatment is focused.  There are a number of other mutations, such as COMT, CBS, MAO that can complicate treatment.  Some patients are so sick that we have to address other health problems before they are able to tolerate treatment.

How is it treated?

Many people believe only homozygous MTHFR needs to be treated.  I beg to differ and find that even heterozygous MTHFR will find that their health problems can be resolved by treating MTHFR.  Treatment of MTFHR is often very hopeful.

In general, treatment is nutritional.  The goal is to work toward lifestyle changes and a maintenance dose of a multi-vitamin with methyl-folate in it and avoidance of synthetic forms of folate.  It can take some stepping stones to get to the maintenance dose as we tweak your body’s ability to spin biochemistry wheels and make the gears more efficient.  We want to spin them at the right speed, not too slow and not too fast causing detox.  Some patients see immediate life changing results while others see results consistently but more slowly especially if things have been going on for a very long time.

Any medications that involve folate pathways are generally contraindicated with a decrease in your enzyme.

Who should be screened?

If there is a family history of MTHFR or methylation defects in your family, you should be screened.  It is estimated that 30-40% of the population has this mutation depending on ethnicity, therefore it is wise to screen for it whenever there is chronic disease, infertility, or in pregnancy.  Growing a baby involves adequate active folic acid so screening in pregnancy MTHFR is essential. 

There is a very long list of chronic diseases that are linked to MTHFR but in short, I often screen for it in my office if there is some family history of heart disease, cancer, diabetes, any clots, depression and/or addiction.  I also screen in more unusual conditions such as sensitivity to caffeine, a feeling of something creeping up such as a panic attack, estrogen dominance such as fibroids and autoimmune conditions.  In the first patient visit, we are creating a painting of the person’s well being and if the picture fits MTHFR, a screening is well worth it.

Screening can be done in our office by blood test. There are kits offered online for blood and saliva testing.  I do counsel patients on the best option for them depending on their finances, health goals and concern for genetic testing and data mining of the information.

Comments

  1. I was diagnosed with Meniere’s disease about 5 years ago. The Meniere’s has progressed very rapidly during the past year. I was having vertigo every other day. During this year I have had many treatments; including intratympanic steroids injections and even acupuncture. During my search for a treatment which would allow me to have my life back, I had developed High Blood Pressure, heart arrhythmia, high cholesterol, and an inflamed thyroid. Most recently it was discovered that I have MHTFR mutation c677t and a1298c. I am being treated with Metanx, selenium, and 81 mg baby aspirin daily in addition to all the medication I take for all the other ailments I have developed. I am hoping this treatment will put my body systems back to normal and add in stabilizing the MD. Has anyone had any relief from MD using the treatment for MHTFR mutation c677t and a1298c?
    Any suggestions are welcomed.
    : )

  2. Thanks so much for the information on the MTHFR gene mutation. I am so new to this information and find it a bit confusing. I was recently screened for the C677T and A1298C allele mutation. The results stated one copy for the former and two for the latter. How then is this defined i.e., compound heterozygous or heterozygous/homozygous? It still baffles me.

    Also, I have had four normal, healthy babies. I became sick after the fourth and have dealt with energy issues etc for nearly 20 years. Now my kids (all grown) face their own health issues as well. My labs suggested genetic counseling. Is this something I should do considering I am over 50? Or, should I just continue studying the issue on my own and tweak my vitamin regimen as newer information becomes available?

  3. Kim Newcomer says:

    I’m one of Dr. Fowl patient with this MTHFR condition – homozygous. I regained energy & vitality almost immediately after following Dr. Fowl’s treatment. I was being treated for another condition, and Dr. Fowl incorporated treatment for MTHFR as well. She provides a complete solution. I’m grateful to be under her direction. My mom passed away from a Parkinson’s-like condition. Wish she had been treated by Dr. Fowl.

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  7. My test came back positive for MTHFR 1298A>C AC. What is your recommendation?

    • Dr. Shannyn says:

      Hi Greg, thanks for the comment! We recommend setting up a consultation at our office, either in person or over Skype, to learn more about your unique case.

  8. I just got diagnosed with a mutation of the MTHFR gene I believe just one. A1298C A/C my internist put me on PoDiaPN and I have been on two doses a day for 7 days. I really hope it works. I am 36 yrs old and I feel heavy brain fog, weak, tired, achy, depressed and anxious all of the time. I want to feel normal again.

    • Dr. Shannyn says:

      Hi Leah. It sounds like you’ve been experiencing some challenging symptoms. Please feel free to contact our office to learn more or to set up a free consultation with Dr. Shannyn.

  9. Alice Courtney says:

    I recently had my DNA tested and found that I have C677T/A1298C mutations, with the mutation result listed as homozygous/wild type. The doctor who had the test done has put me on 1000mcg of folic acid/day, but, in light of what I have read so far, this seems to be a mistake. One site suggested methylfolate, methylcobalain, with the product names being Metafolin and Extrafolate-5. I am 68 years old and have atypical facial pain (originally diagnosed as Trigeminal neuralgia), chronic depression (low end bipolar disorder), muscle spasms, osteoarthritis, and I have had 3 stents put into my heart. I have neuropathy and am very close to having type 2 diabetes. What program of supplements would you recommend for me? One of my sisters had CRPS and the other has Lupus. My ANA is positive, but all other autoimmune tests have been negative so far. Is there hope for me?

    • Dr. Shannyn says:

      Hi Alice,

      There is indeed hope for you. I see patient recover and thrive everyday in my office despite having MTHFR.

      If you have once abnormal gene mutation in each 677 and 1298 then you are heterozygous for both. Sometimes people call this a compound mutation since you have one in both. Synthetic forms of folate do not help people with MTHFR defects and often makes them worse. What to start on depends alot on you and your body’s history. Pain, mood, arthritis, muscle pain and nerve problems can all be related to MTHFR and the challenge it makes to detox. Autoimmune can develop after awhile of being too toxic but doesn’t have to. I encourage you to seek a local doc who has some success with MTHFR treatment or we can set up a consult to see how we might be able to help you find some answers.

      Dr. Shannyn

    • Pat Prahl says:

      Dear Alice,
      when i’m in a depression I scour the websites trying to find new information. Our ages are the same, we both have panic attacks we both have depressions. I have neuropathy I am on Deplin and for a while there it helped the depression and made me feel like a normal person but the depression is back. I soothed my soul a bit seeing you were there and would understand my state. We’re the same age & have basically the same symptoms. The problem with Mthfr treatments is that they have side effects & MRHFR patients are highly sensitive to chemicals. A catch 22 if there ever was one. If you’ve discovered ANYTHING that can us, please let me know. I’ll Soooooooo appreciate

      • Dr. Shannyn says:

        Hello Pat,

        There is hope and treatment for MTHFR patients. It can seem overwhelming when you have side effects from the very things that are supposed to make you feel better. You don’t have to have side effects. We just have to slowly tweak your treatment plan as those wheels get used to spinning again. Some bodies need patient doctors who know how to work slowly to get results over time. I work as hard as my patients and it is rare that my MTHFR patients do NOT get better. Please do contact my office if you are looking for answers.

        Dr Shannyn

  10. I was diagnosed through blood tests as having a DOUBLE 1298c gene mutation. I need a dr who has expertise in this mutation. My past dr does not know enough about this mutation or proper treatments.

    My symptoms include:
    -Depression
    -Chronic Fatigue/Fibromyalgia (have chronic fatigue and pain pressure points all over body that are getting worse). Fatigue particularly in the morning and extremely difficult to get out of bed and getting worse over the years. A lot of pain when getting out of bed in am.
    -Miscarriage (last year at 3 months into pregnancy)
    -Infertility (was off birth control for 3-4 years until I got pregnant and then had a miscarriage)
    -Very sensitive to vaccines
    -Migraines
    -High anxiety
    -Panic Attacks
    -Tongue Tie (some stuttering)
    -Circulation problems (a lot of spider veins)
    -Food sensitivity
    -Toxin sensitivity
    -Chronic constipation
    -Brain fog
    -Dizziness
    -Mood swings
    -Past Hormonal issues

    • Dr. Shannyn says:

      Hi Amber,

      It is not uncommon to find that doctors do not know much about MTHFR, in fact some docs won’t even run the lab because they feel it will not influence their treatment or is even relevant. The understanding is that MTHFR has to do with the heart and that cardiologists would run the test most often, however a survey of over 400 doctors found that neurologists and family doctors ran the genetic test most often. That tells us that it can also affect the nervous system quite a bit including sensitivity, dizziness, migraines, etc.

      I know you can find some answers by addressing your biochemistry wheels more specifically. I have seen patients with all the things listed above. I find it particularly interesting that we can almost always resolve panic attacks or the other sensations that get stuck in the category fairly quickly. Most MTHFR patients have belly complaints too. I have several patients who have been treated for MTHFR who were infertile and with treatment, they are able to carry a pregnancy to term. Not always but I always look for MTHFR in infertility cases. Pain and fatigue are all part of toxicity which MTHFR can make difficult to prevent until the wheels are spinning as best they can.

      Our office is happy to talk with you to see if we are a good fit for each other to help you find answers to your health problems.

      Dr. Shannyn

  11. I was diagnosed in 2012 with 677 TT and 1298 AA I was put om Deplin 20 mg and then on a more natural 5-methyl…..that now included B 12 5000 mcg. I am not sure I understand why I was given such a large dose of B 12 because my metabolic panel came back with my B 12 at 505 and my RBC Folate at 978. I still have the same issues I have always had but since I started following the plan from my doctor I have bad sores/acne along my jawline and down my neck and my skin all over my body, especially my face, is just all of the sudden droopy almost saggy….it seems my muscle tissue is depleting. I am 37 now but I have always been a healthy individual when it come to exercise and diet ( I am a vegetarian and have been for 14 years). Could all this be caused from too much B 12 not being able to exit my body?

    • Dr. Shannyn says:

      Hi Melissa,

      This is not an uncommon story I hear in my office. Many patients will go years without problems then something shakes them to the core like an illness or an emotional experience and it is hard to get back into balance. MTHFR has a lot to do with detox and can prevent you from getting back in balance. It is not uncommon for patients to get some skin issues or muscle issues with methyl folate and b12. It can be too much. Each patient is different and we have to support their systems while we get their biochemistry wheels spinning properly. My office is happy to talk to you about how following up for care might work for you.

      Dr Shannyn

  12. Mark Honea says:

    Is there any special diet that can help, I have been diagnosed with MTHFR Polymorphism.
    I don’t have enough energy to take care of myself anymore. So, any hints on how to build energy would be appreciated. And don’t tell me to exercise, I can hardly get out of bed! Thank you.

    • Dr. Shannyn says:

      Yes. Exercising can take all your energy. It is important to leave 30% of your energy for healing. It does take energy to heal.

      As far as ideas for energy, it depends on the person as to what is going to work. Energy is a common problem with patients who are newly diagnosed with MTHFR but everyone is different and unique. Feel free to call for a free 10 minute appointment to see how we can get started.

  13. Stacy Arient says:

    I have just been tested positive for the c677t mutation and i have gastroparesis. Of your list i have quit a bit of issues on them. mono, migraines, anemia. I have just been put on reglan for the GP and will be taking metnx for the mthfr. Do u have suggestions for patients with GP and this mutation as well. Food is my enemy right now and hard to eat the good healthy stuff since it fights my tummy. Any help and advice would be great.
    Also I have a family of breast cancer and Alzheimer, should I be worried and what should I do about it. cousins on dads side has breast cancer and dads mom and her mom had Alzheimer.

    • Dr. Shannyn says:

      to me
      It is not uncommon for MTHFR patients to have problems with food as a complication from thoseethylation wheels not working optimally over time. A food intolerance panel can be very helpful in taking the mystery out of food issues while healing the rest of the body and getting those wheels spinning.

      Hi Stacey,

      It is uncommon to have gastroparesis but I have seen a few and it does take time to heal but it is possible. When treating MTHFR adequately, you can lower your risk factors for developing family history problems.

      Your best options for you as an individual will be to find a doctor who can treat you step by step as you deal with healing from years of illness. Be well.

  14. Dears,

    i am 34 years and have been diagnosed as Factor v homo and MTHFR hetro.
    i do not have any symptoms and did not discover the issue only after my first miscarriage.

    the Hematologist said that i have to take Heparin(Lovenox 40mg) twice daily during pregnancy.

    i miscarried 5 times , all miscarriages happen on week 5 !!!knowing that i was taking Lovenox as Dr has prescribed.

    Please advise and assist if possible.

    Thanks
    Zeina

    • Dr. Shannyn says:

      Hi Zeina,
      You are not alone. I have heard this story many times. MTHFR patients come to me for treatment and get better. And while I do not really plan on treating infertility, they come back because they want some help getting pregnant and keeping a pregnancy. It has been awhile since you comment but if you are still looking for guidance, please do contact my office for a 10 minute consult to see if we can work together.

  15. Van Dees says:

    Hi,

    I am in South Africa and the following were diagnosed in my blood:

    MTHFR – March 2014

    HETEROZYGOUS 1298AC and WILDTYPE 677CC. The Dr’s continiously diagnosed me with Bi Polar and the last Dr I have seen three months ago is not agreeing with this.However,he is still treating me with anti- depressants and I continiously feel tired,muscle pain,Anxiety ,Arthiritis etc.
    I had a heart attack at the age of 41 and no tests were done for MTHFR.
    It seems like MTHFR is not familiar to some Dr’s in South Africa.
    Perhaps you will be able to assist me with this and or referring me to a Dr. in South Africa.
    I am currently taking 750micrograms Folic Acid (Natural) at night ,and can feel no improvement.

    Your reply will be much appreciated.

    • Dr. Shannyn says:

      Hi Van,

      I am sorry you are not finding the help you need. We certainly won’t be able to give you the most effective options over a comment section. You deserve to have your whole picture heard and understood in an office intake and make a plan of action for you. If you cannot find a doctor of help. You can email my office about our Skype options.

  16. Bruce Cullen says:

    Please help me wade through all this information. I have just gotten test results indicating I tested positive for c677t and a1298c. I’m a 52 year old male that has been suffering with bipolar, short-term memory loss, addiction issues, degenerative disc disease with chronic nerve pain and damage, and other symptoms that according to other websites may seem to be associated with these genetic markers. My doctor has placed me on Cerefolin NAC. It seems that people taking this experience great results. Is this the right treatment path? What should I expect for my future?

    • Dr. Shannyn says:

      Hi Bruce,

      I commonly find many of your problems such as addiction and chronic pain connected to MTHFR. When we get those wheels spinning better, things will improve. Your best option is to find a local doctor to work with who is good at getting to the cause.

  17. Kristine says:

    Hello.

    I recently got tested and theese results came back. I don’t understand it all.
    Can anyone explain? I have several health issues, Hashimotos, Celiac, chronic inflammatory gastritis, iron deficiency, fatigue.

    MTFHR Genetic Variation: 677 CC
    MTFHR Genetic Variation: 1298 AC
    MTR genetic Variation: 2756 AG
    MTRR Genetic Variation: 66 GG
    COMT Genetic Variation: 472 AA

    I am thankful for someones help.

    • Dr. Shannyn says:

      Hi Kristine,
      Looks like you have a heterozygous mutation in the 1298 variant. The rest of those result depend on your other results, not shown here.
      You are not alone. These results can be confusing and understanding how they relate to your symptoms can be even more confusing. The good news is that I see patients with all the health issues you mentioned: Hashimotos, Celiac, chronic inflammatory gastritis, iron deficiency, fatigue- get better! They recover and led a normal life with the right tools.
      Feel free to call my office and see if you are a candidate for care. It would be lovely for you to be able to find your answers.

  18. Not sure if anyone else mentioned this in the comments above, but the 4 bases (not amino acids) that make up DNA are adenine (not adenosine), guanine, cytosine and thymine (not tyrosine).

  19. What a great and easy to understand article. I have recently been tested and I am homozygous A1298C as well as having Pyrrole disorder. My doctor put me on a compounded formula of SAMe, methyl B12, Biotin, Magnesium, Maganese, Molybdenum, P5P, Pyridoxine, ascorbic acid, zinc, Vit E. I trialled this but no change, is there a reason I didn’t improve? I have been fighting all of the symptoms for years and really need to get to the bottom of it. He said to stop taking it but I am wondering why I didn’t notice any difference. The doctor seems to think that maybe the mutation is not expressing however I have loads of symptoms – extreme fatigue probably the worst. Thank you

    • Dr. Shannyn says:

      Hi Katie,
      We try to make things a bit more simple to understand so I am glad it worked. Pyrrole disorder can be challenging along with 1298 homozygous, however there are some proven treatments that make a big difference for patients. Your list of supplements seems like a lot to start with right off the bat so I can see why you may not have seen immediate response. It can take awhile to spin those wheels properly for one thing but you do have to treat the cause as well or you are unlikely to see results. I agree it does sound like your symptoms are not optimal health. I am happy to do a 10 minute consult with you on the phone to see if we can work together to get you feeling better. Feel free to contact my office so we can help you get to the bottom of that fatigue!
      Thanks for your comment Katie.

  20. I go to see daily some blogs and sites to read articles, however this blog gives quality based writing.

  21. I have the MTHFR and am postive for C677T and A1298C. My integrative doctors found this out. Recently diagnosed with Triple Positive HER2 Invasive Breast Cancer. Surgery for a bilateral mastectomy in 26 days. Wondering about treatment plans. Many tests I’ve read or blogs etc, state that many chemo treatments are toxic to such a gene makeup. Before I even knew this, to my bones, I had this feeling (strongly) to NOT do chemo. My diet changed about 3 months, w/guidance from the Integrative docs, staffed nutritionist. No gluten, no whey-yeast, no dairy and several other items. I’m eating much better, feeling great. Surprised when I got the news regarding my BC. What kind of treatment would be best for someone in my position and genetic makeup for my BC? Any help would be greatly appreciated.

    • Dr. Shannyn says:

      Hi Beth,

      There is no clear path or clear answers for this type of question. It must be based on the individual and your case. While genetics can tell the risk factors for developing health issues, complications and efficacy of medications, we have to weight the benefits of the treatment and seriousness of the diesease. I would encourage you to follow up with a local naturopathic doctor or savy integrative doctor in your state who may be able to offer you the best options for you. Good work on your diet! Excellent start. Continue to search for the cause while undergoing treatment so you can prevent recurrence.

      Wishing you wellness, despite the health complications,
      Dr Shannyn

      • Thank you for the reply. I continue to work with my integrative doctors and inform them of the treatment plans that the oncology team would like me to do. Taxol (chemo) and Herceptin for 1 year. Though, I am wondering and hoping I can ask oncology if I could do JUST the Herceptin. Also, going to ask my surgeon if I should have my ovaries removed to help decrease the estrogen. I have no clue if this would help, but I thought I should at least ask. For now, I’m waiting on the surgery to determine my treatment plans. The sentinel node, if clear, I will strongly hold to want to just do Herceptin. Unless I can find another option. In the meantime, I have been seeing a licensed acupuncturist, for pinning and ion foot detox before surgery. Along with dry brushing (for lymphatic system) and some essential oils on the bottoms of my feet. I seem to do better with natural items than chemical. I have sulfa drug allergies, so antibiotics are tricky for me. I know my body well. My worse thing I do is eat chocolate. But my doc says it is better than tequila. (smirk implied) Thank you I will continue on the food regime and the rest and exhaust my other treatment options when the labs are back the day of surgery.

  22. i was recently diagnosed positive for C677T heterozygous mutation. Where do i start to treat this? my dr has prescribe deplin. any info is helpful

    • Dr. Shannyn says:

      Treating MTHFR and other mutations really depends on the individual. Many of these patients are sensitive and we need to take that into account. I have a number of patients who were started on deplin a bit too fast. It is a form of folate but not always the best form for everyone to get results. Feel free to call my office and set up an appointment so we can start working toward wellness by finding the best options for you.

  23. Dr. Shannyn says:

    It is true that folate is important in the wheel for MTHFR, however if the wheel is not spinning adequately, it can make symptoms worse. The first goal in our office is usually to get the wheel adequately spinning first then add in the folate. No one needs more symptoms!

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