February 2, 2017

Methylenetetrahydrofolate reductase, the MTHFR gene is a genetic polymorphism, or what is seen as a genetic variance or flaw in today’s science. One in every two people may have this variance — about half of the population.

The human body contains over 50 trillion cells, and each cell contains a complete set of instructions for making you. The instructions are encoded in your DNA. Short segments of DNA are called genes. Your DNA is the cookbook, your genes the recipes. Genes encode for specific proteins, and those proteins play a crucial role in the function of the body’s tissues and organs. Humans have about 20,000 genes. Among those 20,000 genes is the MTHFR gene. Most people have two copies of it. It provides instructions for making methylenetetrahydrofolate reductase (MTHFR). When you eat foods that contain folic acid (vitamin B9), MTHFR converts it into methyl-folate, folate’s active form. This process is super important because methyl-folate plays a role in just about everything your body does.

Methylene tetrahydrofolate reductase (MTHFR) is the rate-limiting enzyme in the methyl cycle, and it is encoded by the MTHFR gene. In other words, the MTHFR gene is responsible for production of an important enzyme.

This enzyme is a critical part of the methionine and folate cycles, which are important to manufacturing methionine, an amino acid which is a fundamental constituent of all proteins on the planet, and folate (or folic acid), which is an essential nutrient.


Even though you have a gene mutation that may not mean that it is expressing it’s self, many people for example have a fault in the MTHFR gene but experience no symptoms. It seems to be the following that can “switch a gene on” that decreases the pathway that the gene is responsible for MTFHR defect.

  • Viral Infections like Glandular fever
  • Poor Dietary & Life style choices
  • Stress & Trauma
  • Chronic Inflammation
  • Oxidative Stress
  • Nutritional Deficiencies
  • Mould toxicity & Exposure
  • Heavy Metal Poisoning
  • Severe Food Poisoning

Affects of MTFHR enzyme Deficiency

MTHFR enzyme deficiency (caused by one of several MTHFR gene mutations) leads to two important problems –

  • Accumulation of the methionine precursor, homocysteine, which can lead to several types of injury including DNA and vascular damage. People with high homocysteine levels typically respond well to supplementation with vitamins such as B6, B12, and folate or folic acid.
  • Lack of folate (folic acid), which leads to several known issues, is easily treated with folate or folic acid. As I’ve discussed in scientifically detailed manner previously, folate and folic acid are simply two forms of the same chemical, indistinguishable by the human biochemistry.

High homocysteine levels in the blood are recognised as a risk factor for –

  • Coronary artery disease
  • Venous thrombosis and stroke
  • Type 2 Diabetes and
  • Obesity

High homocysteine levels in the blood have also been associated with –

  • Neural tube defects
  • Recurrent miscarriage
  • Autism Spectrum Disorders
  • Stillbirths
  • Depression and other mood disorders

Associated Conditions with MTFHR defects –

  • Elevated homocystine
  • Heart Disease
  • Stroke
  • DVT (Deep Vein Thrombosis)
  • Placental Vascular Problems (stillbirth)
  • Preeclampsia,
  • Neural tube defects (midline defects ranging from tongue tie to Spina Bifida)
  • Depression, Anxiety,
  • IBS
  • Fibromyalgia
  • Chronic Fatigue
  • Migraines
  • Dementia
  • Nerve pain
  • Schizophrenia
  • Parkinson’s
  • Autism, (98% of autistic people test positive for MTHFR)
  • ADHD
  • Addictions
  • Cancer
  • Renal Failure
  • Downs Syndrome

The major cause of high homocysteine levels is folate deficiency. Other factors include insufficient vitamin B12 and genetic mutations in the MTHFR gene.

Those of people with the MTHFR mutation have a defective MTHFR enzyme. They produce 30 to 70% less methyl-folate than someone without the mutation does. With lower methylation, your performance can suffer, and you have a higher risk of developing many different diseases.

Methyl-folate is a key player in methylation, the process of adding a methyl group to a compound. Methylation is fundamental to the proper function of almost all of the body’s systems . It’s involved in –

  • Repairing and regenerating your cells, tissues and DNA
  • Regulating gene expression and protein function
  • Synthesizing neurotransmitters that influence mood, sleep, behavior, cognition and memory
  • Controlling homocysteine (an amino acid that can damage blood vessels)
  • Keeping inflammation in check
  • Assisting your liver in processing fats
  • Activating and regulating the immune system
  • Modifying toxins and heavy metals


Following test may prove helpful –

  • Neurotransmitter Metabolites – A simple urine test showing the breakdown of all your neurochemicals
  • Stress and Sleep hormone profile – A Saliva test to measure plasma cortisol levels & Melatonin levels
  • Blood Glucose – Prolonged stress will affect blood sugar levels and changes in blood sugar levels can make conditions like anxiety and depression worse.
  • Homocysteine levels – This is a great indicator of the MTHFR C677T gene
  • Whole Cell B12 and Folate levels – These reflect what you body is and is not converting, often people have elevated levels of these with these sorts of gene mutations
  • Stool Analysis– Bacterial over growths are a common cause and problem in those with methylation faults.
  • Zinc Levels – A simple taste test to check your zinc status.
  • Full Genetic Profiles – Methylation and genetic testing allows us to access the entire pathways that might be contributing to your condition.
  • Histamines – Many people with these genes have an inability to detoxify histamines causing conditions like hives and skin inflammation
  • Food & Chemical testing – Many people with these gene mutations find it hard to tolerate certain food groups.
  • Hair Mineral Testing – Often heavy metal toxicity can compound issues and gene faults can make it hard to detoxify certain heavy metals.


Using other forms of functional medicine as our guide, the Salerno Center for Complementary Medicine offers unique, customizable IV therapy vitamins for MTHFR, which include metholated folate, glutathione, and other important nutrients for remethylation. Depending on the treatment plan and personal needs, this broad spectrum IV mixture can be administered once or twice a week for several months at a time for convenient, absorbable, targeted care.

Besides MTHFR testing, other areas of evaluation include metal toxicity, thyroid, vitamin D, adrenals, environmental/food sensitivity panels, organic acids, and viral antibodies.

Supplements –

Folate (or Vitamin B9) is not to be confused with Folic Acid, the synthetic version which you should avoid.

B12 is crucial for your brain, nervous system and red blood cell formation. People with MTHFR can become deficient in B12 if they are taking the wrong form (cyanocobalamin) or not getting enough from natural food sources.

Vitamin B6 is crucial for your brain, immune system, nerve function, red blood cells and protein digestion.

Riboflavin cannot be stored in the body so you need to have some every day. Vitamin B2 is essential for energy production and serves as an important antioxidant.

Vitamin C, another powerful antioxidant, this one is a little easier to get as long as you eat your fruits and veggies.

Betaine important to the methylation process and also for liver health and homocysteine reduction.

N-Acetyl-Cysteine and Glutathione proves to be helpful.

Curcumin, which has a number of health benefits including anti-inflammatory and anti-cancer properties.

EPA/DHA, these fatty acids are all the rage these days and are particularly important for people with MTHFR genetic mutations.


Reference –

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