MTHFR GENETIC MUTATION 

MTHFR & Genetics in TCM for A1298C & C677T

Did you recently discovered that you have a genetic mutation called MTHFR? 

Not everyone is effected the same way by the mutation MTHFR - but one thing everyone has in common: difficulties to detox and inability to process certain medications or other substances.

The treatment includes: 

  • Nutritional Coaching

  • Blood tests if requiered

  • Vitamins & Supplements

  • Acupuncture & Herbs 

  • other mesures if requiered

MTHFR polymorphism explained

 

If you receive this article, you probably recently discovered that you have a genetic mutation called MTHFR. As there is a lot of complicated biochemical information out there, I tried to narrow it down and make it understandable for you. If any questions occur, please don’t hesitate to contact me or your health professional.

Infertility in female and male, Multiple miscarriages, birth defects, Endometriosis, Chronic migraine headaches, Irritable bowel syndrome, Allergies, nervous ticks, Depression, Autism, young age heart attack / high blood pressure and stroke, and many more.

What do all these seemingly disparate diagnoses all have in common? They are just some of the conditions linked to a faulty enzyme called MTHFR (methyl-tetrahydrofolate reductase).

It is safe to say, that most of the disorders I see in the practice are related to methylation deficiencies resulting from variants in the genes coding for MTHFR.

What is polymorphism mean, what is a gene?

Every one of us has 23 chromosomes from the mother and 23 chromosomes from the father. Each chromosome is a amino acid – where they “adopt” the first letter for A-C-T-G and they couple themselves together. Linked together and winded into a double helix all chromosomes in every cell of our body is called the DNA.
The coupling up of our 2 chromosome strings form a new formation and sometimes there we can develop mutations on the various chromosome. Polymorphic means: many different shape. Even if we inherited from each of our parents one side of the chromosome line, still we have our own shape of a gene. This gene carries our specific “mutated” information with it. The trouble is with any gene polymorphism, that the matching enzymes who are supposed to dock on are not able to dock on an to do their job.
So if 5 people in a family carry the MTHFR Gene, still they might not have the same symptoms or no symptoms yet.

What is MTHFR?

Although there are over fifty known MTHFR polymorphisms that can affect the amount and activity of this vital enzyme, the two primary ones we need to think about are called C677T and A1298C. These are the most common genetic variants that cause MTHFR to function at a lower rate than normal and therefore  slow the methylation process in tissues throughout the body.

 

What is methylation?

Explaining before about the chromosomes and DNA, methylation is a core process that occurs in all cells in the DNA strings but only on the amino acid “C” codes and is responsible for:

  • Cellular Repair: synthesis of nucleic acids, production and repair of DNA and mRNA.

  • Detoxification and production of neurotransmitters (communication between nervcells from a-b via brain or ganglion in the column) and nerves: interconversion (translation and new production) of amino acids.

  • Healthy Immune System Function: formation and maturation of red blood cells, white blood cells & platelet production. But also production and regulation of Histamine.

 

 

When people with mutations in MTHFR are exposed to environmental or food borne toxins, they have a harder time getting rid of them, which can cause some very serious illnesses.

The C677T variant is most commonly associated with early heart disease, heart defects at birth and stroke but also fertility issues in male and female. The A1298C variant is linked to a wider variety of chronic illnesses, but either anomaly can cause a chain of health problems, especially if not treated accordingly.

If someone is heterozygous for one of these (only one side of the „X“ is mutated / mutation results as an inheritance from one parent), his or her MTHFR enzyme activity will run at about 60% efficiency compared to someone without this polymorphisms.
If someone is homozygous (both parents carry the mutation in a homozygous form), then enzyme efficiency drops down to 10% to 20% of normal, which can be very serious in some patients. In other words, if your function as homozygous is only at 10% running, your entire detoxification of any substance is basically not functioning. There is a higher risk of obesity or illnesses because the toxins that can’t be disposed by your cells and body. 

The worst combination is C677T & A1298C in which someone is heterozygous for both anomalies.

Many chronic illnesses are linked to this "double whammy." Fibromyalgia, irritable bowel syndrome, migraines, chemical sensitivity, frequent miscarriage and frequent blood clots are just some of the conditions associated.
 

MTHFR-Related Health Problems (Lynch, mthfr-mutations-and-the-conditions-they-cause/2011/09/07/, 2011)

Glutathione is the body's primary antioxidant and detoxifier. One of the ways that MTHFR gene mutation can increase susceptibility to illness is by compromising the ability to make glutathione. People with MTHFR anomalies usually have low glutathione, which makes them more susceptible to stress and less tolerant to toxic exposures.

Accumulation of toxins in the body and increased oxidative stress, also leads to premature aging.

Some other conditions that may be associated with MTHFR gene mutations include:

  • Autism (Boris, Goldblatt, Galanko, & James, 2004)

  • Addictions: smoking, drugs, alcohol, medication, gambling etc.

  • Down's syndrome

  • Frequent miscarriages

  • Male (low sperm count, bad morphology, high DNA defragmentation, low enzyme activity in the mitochondria, azoospermia etc.) (Wei, et al., 2010)

  • female infertility (LEDOWSKY, 2015)(Endometriosis, PCOS, high miscarriage rate , spina bifida inspite of high folic acid intake, birth defects)

  • lack of intrinsic factor, low or high B12 but not visible in blood tests…

  • Pulmonary embolism and other blood clots

  • Depression, anxiety and tension problems

  • Schizophrenia (Roffmann, et al., 2006), Bipolar disorder

  • Fibromyalgia / Polymyalgia

  • Chronic Fatigue Syndrome

  • Chemical Sensitivity

  • Parkinson's disease

  • Irritable Bowel Syndrome

  • Stroke, Migraines

  • Hyperhomocysteinemia, Atherosclerosis, Myocardial Infarction (Heart Attack)

  • Cancer (LEDOWSKY, 2015)

  • Alzheimer's

  • Multiple Sclerosis

  • Methotrexate Toxicity

  • Nitrous Oxide Toxicity

Testing for MTHFR Polymorphisms

It is easy to test for the most common and problematic MTHFR polymorphisms. Many functional diagnostic labs offer tests. In Switzerland you can either go to your GP and ask for the test (unfortunately most GP’s don’t know what MTHFR is, and therefore don’t want to test for it), or you make an appointment with your Laboratory directly. In any case it will be payed out of your own pocket. The prices vary though between the labs. 

For treatment purposes it is very crucial to keep in mind, that the biggest problem is, that your body is very bad in detoxifying and that this is mainly caused by a lack of all B-Vitamins. But more important is to consider that you cannot just take any variable B-Complex but only already methylated (translated into active form) B-Vitamins.
 

Other defected enzymes related with MTHFR

  • If you suffer from allergies, increased sweating, high gut movement, have your Histamine levels checked. (Lynch, histamine-intolerance-mthfr-and-methylation/2015/06/11/, 2015)

  • Patients with big problems of irritable bowel syndrome should get tested for COMT (Catechol-O-Methyl Transferase) Enzyme, additionally to MTHFR. If you happen to have too much of this enzyme, green tea and Quercetin helps (you can get it as capsules best though to eat onions or inner skin of the orange etc.). The COMT Enzyme degrades catecholamine’s such as Dopamine, epinephrine and Norepinephrine.

  • Patients with more psychological disorders should get tested additionally for MAO-A Enzyme. (Lynch, histamine-intolerance-mthfr-and-methylation/2015/06/11/, 2015)


Treating and small knowledge about B-Vitamins

B2 (Riboflavin) is the enzyme to translate and absorb B12 (Methylcobalamin), B9 (Folate) and B6 Pyridoxin.

If someone has one or more of the problematic mutations, you can supplement with Methylfolate and methyl B12, the active forms of these B vitamins. You can also supplement with liposomal or acetyl-glutathione, the end product of the MTHFR-mediated biochemical pathway. Please make sure that all supplements are “activated” which means, that they are not synthetic and that are in the form that your body does not require any further enzymes to convert them to the valuable form your body can read and use immediately.

Glutathione is poorly absorbed, so either the liposomal form or a precursor, called n-acetyl cysteine (NAC) may be used. Some of my favorites are Thorne Research's Methyl Guard Plus and 5-MTHF 1mg and 5mg. NAC is also good as a start off to clean your liver from all previous toxins that were not extracted by your system.

There are also prescription medications that contain methyl-Folate: Deplin, MetanX, Cerefolin NAC are a few. It's also possible to give methyl B12 via intramuscular injection, as a nasal spray, or sublingually. Please ask your health professional, as every country has different supplements.

The intramuscular shots (of activated Methylcobalamin) are by far the most effective method, but have obvious limitations in terms of routine use and patient compliance.

Other B vitamins, such as riboflavin and vitamin B6 also play an important role in the care of patients with MTHFR polymorphisms. As you may have surmised, this can be quite complex, and it is important to keep in mind that it is not uncommon for patients with MTHFR polymorphisms to be very sensitive to supplementation.

If you experience any gastric bloating or discomfort, contact your health professional, stop your medication or reduce the dosage. It might be a temporary adjusting to the supplements or that it is the wrong product for you. 
 

Which medications should be avoided when having MTHFR Polymorphism

  • Any medication that has an influence on the metabolism or on absorbing nutrients.

  • Any medication that alters our hormonal household like contraceptive pills.

  • Non-methylated vitamins especially B-Vitamins including folic acid (synthetic folate) (LEDOWSKY, 2015).

  • Glucophage / Metformin, if you suffer from diabetes, try to avoid this medication and rather work with your lifestyle and diet – if the diabetes is too severe change your medication.

  • Anti-depressants, anti-anxiety, Remeron, Stillnox or any other Benzodiazepines should be tried to be avoided as the toxic levels increase and your initial problems worsens. See your health professional GP or the therapist who treats you for YOUR MTHFR to adjust your supplements, diet and lifestyle. (Carnahan, 2014)

  • Painkillers based on morphine should be avoided as they do not work on most MTHFR patients.

  • Women who are injecting hormones for IVF/ICSI or any ART, should take low hormone doses, otherwise the egg quality suffers. Also note to take either white willow extract or low dose Aspirin from the first injections on cycle day 4-5 until 12th pregnancy week, to help keep homocysteine levels down and your baby can be nourished better without blood clotting.

If your Histamin levels are high you might want to discuss this with your Reproductive Medicine Doctor to take either Antihistamin or low dose of Cortisone for a short period of time.

  • There are many more medications who can inhibit your Enzymes from doing what they are supposed to do.
     

Which foods should be avoided with MTHFR

In general as a rule avoid all manufactured, processed foods, foods with vitamin additives, sweetener, E-numbers, and preservatives. Eat as fresh and organic as possible. Eat many dark leafy greens to get natural Folate (independent if you are deficient or not on your blood test), good oils like sesame and olive oils. If you eat meat try to have organic non hormone / non antibiotic fed meat. Chicken that was not fed corn. Avoid GMO (Genetic Manipulated Foods). 
Avoid lactose and gluten (bread, pizza, pasta), and cow milk/cheese products. You may have sheep or goat cheese in proportions. 

Please be aware that those are generalised advices. When having a consultation you get your individual food plan, taylord for your needs. book now

Who should be screened?

I recommend testing for MTHFR mutations in all patients with:

  • Mood disorders: depression, anxiety, irritability, mood swings, bipolar symptoms, tension problems

  • Infants and children of parents with MTHFR mutations

  • Parents of children with MTHFR

  • Family members related to someone with MTHFR mutations

  • Infertility and Pre-conception care: test both man and woman

  • Elevated folate (not processing to active 5-MTHF due to inability to methylate)

  • Chronic anemia

  • Elevated homocysteine (due to low active 5-MTHF and Methylcobalamin)

  • Elevated s-Adenosylhomocysteine (due to low active 5-MTHF and Methylcobalamin)

  • Patients who get B12 injections but it never elevates

  • Elevated serum cobalamin (due to inability to methylate (translate) cyanocobalamin to methylcobalamin)

  • Elevated methylmalonic acid (due to methylcobalamin deficiency)

  • Patients with complex chronic "syndromes:" IBS, multiple chemical sensitivity, fibromyalgia, Down syndrome, chronic fatigue syndrome

  • Neurological disorders: Multiple sclerosis, (LEDOWSKY, link-between-mthfr-and-autism/, 2017), Alzheimer's, Epilepsy, Parkinson's, any nervous problems such as tremor and itching etc.

  • Cancer: family history of cancer or undergoing cancer treatment (LEDOWSKY, link-between-mthfr-and-autism/, 2017)

  • Cervical dysplasia

  • Cardiovascular risk: family history of strokes, embolisms, heart attacks, clots, hypertension

  • Birth defects: cleft palate, tetralogy of Fallot, spinal bifida, midline defects

  • Drug sensitivities: methotrexate, anti-seizure meds, nitrous oxide, anesthesia.

If you start looking for these polymorphisms, it's very likely you will find them. This will open new opportunities to minimize risk and truly optimize patients' health through safe and effective nutrition-based interventions.

Further Testing and Doctors I work with

If further testing is needed I recommend to do so with either your GP or doctors I work with. Please contact me for a consult in that case.

References

(Carnahan, 2014)

(Lynch, mthfr-mutations-and-the-conditions-they-cause/2011/09/07/, 2011)

(Lynch, histamine-intolerance-mthfr-and-methylation/2015/06/11/, 2015)

(Boris, Goldblatt, Galanko, & James, 2004)

(LEDOWSKY, folic-acid-vs-5-mthf-treating-mthfr-deficiency/, 2015)

(LEDOWSKY, link-between-mthfr-and-autism/, 2017)

(Smith, 2016)

(Wei, et al., 2010)

© 2018 by Praxis Edna Schur

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Edna Schur-Rubinstein

practice@ednaschur.com

Praxis Edna Schur

 

Schaffhauserstr. 367

8050 Zürich

Tel: 076 349 87 87

Email: practice@ednaschur.com

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