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MTHFR, Methylation and Nutrigenomics

MTHFR is a big player in the methylation cycle.  This cycle is a system that recycles homocysteine and creates SAMe (s-adenosylmethionine), which has enormous consequences.

SAMe is is the body’s universal methyl donor and is responsible for over 250 enzymatic reactions in the body. Methylation is the process of transferring methyl groups from one place to another, but there are many reasons why these groups can’t be passed freely. It may be from not having enough vitamin B12, having hypothyroidism, having high amounts of inflammation in the body, or by having a genetic predisposition.

On average, 53% of the population have a genetic error for an enzyme called MTHFR (methyltetrahydrofolate reductase). This enzyme is essential to pass methyl groups to other substrates, and most importantly to convert folate into L-5-MTHF (L-5-methyltetrahydrofolate), which is an active form of folate.

Active folate is needed for a huge amount of bodily processes.  These include neurotransmitter synthesis for mood and sleep, detoxification, DNA transcription, hormone synthesis and recycling, liver function, antoxidant production, immune system regulation, red blood cell production, blood pressure regulation, energy production, growth of gut bacteria, and many more very important aspects of our health.


Possible Conditions Associated with MTHFR

  • Autism
  • Addictions
  • Down’s syndrome
  • Miscarriages
  • Pulmonary embolisms
  • Depression
  • Schizophrenia
  • Fibromyalgia
  • Chronic fatigue syndrome
  • Chemical sensitivity
  • Parkinson’s disease
  • Irritable bowel syndrome
  • Pre-eclampsia
  • Stroke
  • Bipolar disorder
  • Colorectal adenoma
  • Male infertility
  • Blood clots
  • Congenital heart defects
  • Deficits in childhood development
  • Gastric cancer
  • Migraines with aura
  • Elevated cholesterol
  • Increased bone fracture risk in post-menopausal women
  • Elevated cholesterol
  • High homocysteine
  • Post-menopausal breast cancer
  • Atherosclerosis
  • Oral clefts
  • Type 1 diabetes
  • Epilepsy
  • Alzheimer’s
  • Decreased telomere length
  • Cervical dysplasia
  • Multiple sclerosis
  • Hypertension
  • Thyroid carcinoma
  • Prostate cancer
  • Placental abruption
  • Heart attacks
  • Heart murmurs
  • Tongue tie
  • Behcet’s disease
  • Ischemic stroke in children
  • Unexplained neurologic disease
  • Asthma
  • Shortness of breath

Other Genetic SNPs

There are a variety of other SNPs (single nucleotide polymorphisms), which can also influence how the methylation cycle operates.

CBS, COMT, MAO-A, SHMT, MTR, MTRR, VDR and BHMT are just to name a few, and they all interact in a delicately precise manner.  Through out the case taking experience, questions are asked which reflect the status of these genes.  Often it can be pieced together without further need for genetic testing.


Epigenetics is a field of medicine that looks at how our external environment and lifestyle choices can influence our genes. We are not destined to have the health of our parents or grandparents. We may have the same genes, with the same risk of certain conditions, but we can influence the expression of these genes by how we live our lives; by the food we eat, the toxins we’re exposed to, the thoughts we have, the exercise we choose, and the relationships we engage in. We govern our genes, not the other way around.


Nutrigenomics studies how using particular nutrients can alter, and correct the expression of our genes. By using dedicated nutrients which the body normally requires for proper function, we can get our genetic mechanics back on track.

Methylation Cofactors

Methylation requires certain substrates, enzymes, and co-factors to run effectively. For example, an individual with low levels of serine, vitamin B6, and molybdenum may react badly to sulphur, or have trouble dealing with environmental toxins. By reinstating the body with these exact nutrients, the health of the person can come back into alignment with what it should be.

Testing and Treatment

Treating a person with a SNP involves taking a thorough case history and analysing their symptoms, lifestyle and environmental influences. Testing for the MTHFR gene can be done quite easily, and other testing parameters can also be requested when required. Quite often a referral to the doctor for blood tests is recommended, which provides an inexpensive way to gain a lot of insightful information that can direct treatment.  A methylation profile is a functional test, which can provide more intricate information about the methylation cycle.  This enables more information to work with, which increases how specific we can become with treatment.

Genetic SNPs are a part of life; none of us are perfect; but we can do our best to find out how our bodies are operating and give them the best chance of reaching their potential.