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WTF is MTHFR?

The world of genetics is confusing AF.  But trust me, you will be hearing more and more about genetics in the coming years.  In 2003 researchers completed The Human Genome Project, a many year endeavour to sequence the human genome and understand what our genes can tell us about our health.  And one of the most important genes identified was MTHFR.

MTHFR

MTHFR is the acronym for the gene that makes methylenetetrahydrofolate reductase. This is an essential step in the methylation pathway – a complex pathway that results in the production of neurotransmitters (mental health), glutathione (liver, inflammation and antioxidant health), and processing of estrogen and testosterone (hormone health). Methylation has been considered by many to be the most important enzyme function in the human body.

MTHFR Polymorphisms

Somewhere between 30-50% (perhaps more) people carry a mutation (also called a single nucleotide polymorphism – or SNP) in the MTHFR gene, with an estimated 14-20% of people having a more severe mutation. First identified by the Human Genome Project, researchers noted that people with the MTHFR mutation were more likely to develop certain diseases, including ADHD, autism, Alzheimer’s, atherosclerosis and autoimmune disorders.

Autism Alzheimer’s ADHD Atherosclerosis Miscarriages Fibromyalgia
Deep vein thrombosis Neural tube defects Gluten intolerance Pernicious anemia Schizophrenia Chronic fatigue syndrome
Post-menopausal depression Chemical sensitivities Parkinson’s Irritable bowel syndrome Pre-eclampsia Stroke
Spina bifida Bipolar disorder Male infertility Vascular dementia Blood clots Congenital heart defects
Gastric cancer Migraines with aura Low HDL cholesterol Epilepsy Atherosclerosis Oral clefts
Type I Diabetes Cervical dysplasia Glaucoma Prostate cancer Multiple sclerosis Essential hypertension
Thyroid cancer Premature death Heart murmurs Placental abruption Myocardial infarction Tongue tie
Asthma Bladder cancer Low testosterone Heavy metal toxicity
Conditions Associated with MTHFR Polymorphisms

It is important to remember that just because you have inherited a gene (thanks mom and dad), does not mean you will develop one of these health conditions. There are many factors (diet, lifestyle, nutritional status, environment) that contribute to gene expression.

Your genes are not your destiny, but they are your tendency

MTHFR C667T and MTHFR A1298C

Two main MTHFR mutations have been identified and are the focus of most research.

Mutations are inherited from our parents, and as such we have two copies of each gene. A mutation on either of these genes can be heterozygous (+/-) – meaning only one copy is abnormal – or homozygous (+/+), meaning both inherited copies is mutated. Homozygous mutations are more likely to cause health problems. And having a homozygous mutation in both MTHFR C667T and MTHFR A1298C is considered to be the most problematic.

The Consequences of MTHFR Mutations

The importance of the methylation cycle, impacted by MTHFR mutations, can not be understated. Some of the consequences of altered MTHFR function include:

  • Decreased methylationMTHFR, naturopath, nutrigenomics
  • Increased heavy metal toxicity (iron, copper, lead, mercury)
  • Low iron (often secondary to elevated copper)
  • Increased homocysteine leading to vascular inflammation (cardiovascular disease, increased blood pressure, increased risk of vascular dementia)
  • Poor conversion of homocysteine to glutathione (increased stress, fatigue, toxin build up, cellular stress)
  • Poor conversion of homocysteine to methionine (increased atherosclerosis, non-alcoholic fatty liver disease, anemia, inflammation)
  • Decreased production of SAMe and decreased serotonin levels (depression)

Nutrigenomics for MTHFR

One of the main reasons I became interested in genetic medicine, is the ability of nutrients, diet and lifestyle to strongly influence the function of our genes.  This field of study is known as nutrigenomics. 

When we know what our genetic tendencies are, we can alter and optimize them through dietary and supplemental choices. It’s an empowering way to look at our bodies.

In order to optimize MTHFR function, there are some things that need to be avoided:

  1. Synthetic folic acid – further slows the MTHFR function
  2. Cyanocobalamin – a form of vitamin B12 that slows methylation
  3. Birth control pills – block the uptake of folate in the gut
  4. Methotrexate – another medication that blocks folate uptake
  5. Proton pump inhibitors – a medication for heartburn that alters stomach acid levels and decreases vitamin B12 absorption
  6. Processed grains – contain synthetic folic acid
  7. Mercury amalgams and heavy metals – can lead to greater heavy metal toxicity due to poor metal clearance

Individuals who have MTHFR polymorphisms will often thrive with appropriate nutritional support. Supplements that can help to improve methylation are the cornerstone of MTHFR therapy.

Supplemental Support for MTHFR

Folate – natural folate, from leafy green plants (foliage – that’s how folate got its name!) and natural supplements will help to improve methylation. Especially important during the months prior to pregnancy, women of reproductive age with MTHFR mutations should be taking folate regularly.

Vitamin B6 – an essential cofactor in the methylation pathway, vitamin B6 helps to ensure folate works properly.

Vitamin B12 – vitamin B12 is a methyl donor – it contributes a methyl group to the methylation pathway, allowing it to function at optimal capacity. B12 should be taken in the methylcobalamin or hydroxycobalamin form, and never in the cyanocobalamin form.

Treatments for MTHFRTMG (Trimethylglycine or Betaine) – another methyl donor, providing three methyl groups to the methylation cycle, this nutrient is commonly deficient in people with MTHFR. Stress, infections, inflammation and high levels of heavy metals will all increase the demand for THM. In a healthy body, plenty is made, but it is also available as a supplement and in foods such as broccoli, beets and other vegetables. TMG is especially useful for people with depressive symptoms as it increases the production of SAMe.

SAMe – a consequence of poor MTHFR function is low levels of SAMe. Essential for the production of serotonin, low SAMe can be associated strongly with depression. SAMe acts as a methyl donor in the body, and is made in the body through methylation processes. Supplementation is available although often levels improve with supplementation of methyl donors, B12 and folate.

NAC (N-Acetyl Cysteine) – a direct precursor to the production of glutathione. NAC can be used to support detoxification and decrease oxidative damage in people with MTHFR mutations.

Confused? 

You’re not alone!  The study of genetics, and the influence of our genes on our health, is some pretty deep, dark science stuff!  But it’s also incredibly informative, and empowering.  And if you’ve ever wondered how your genes are impacting your health, you should consider genetic testing and working with a Naturopathic Doctor,  Geneticist or Functional Medicine Doctor who can help you understand your genetic tendencies, and realize your optimal health potential.

Disclaimer

The advice provided in this article is for informational purposes only. It is meant to augment and not replace consultation with a licensed health care provider. Consultation with a Naturopathic Doctor or other primary care provider is recommended for anyone suffering from a health problem.

 

MTHFR in Mental Health

MTHFR is an essential component of human health, one that you may not have heard of, but you likely will be hearing more about it in the future.

MTHFR is an acronym for a gene – methylenetetrahydrofolate reductase. This gene produces an enzyme essential for human health – methylenetetrahydrofolate (MTHF). It has been estimated that somewhere between 30-85% of humans carry a mutation, or SNP (single nucleotide polymorphism) in this gene. This can lead to minimal changes in the function of this gene, or significant changes that can drastically impact health. Our current best guess is that between 6-14% of caucasians, 2% of African descent, and up to 21% of Hispanics have a severe mutation.

MTHFR in Mental Health

One of the essential functions of MTHFR is to produce neurotransmitters. Individuals with MTHFR mutations may be more at risk of developing one of the many mental health conditions associated with MTHFR:

  • depression
  • bipolar disorder
  • attention-deficit hyperactivity disorder (ADHD)
  • schizophrenia
  • autism
  • addiction
  • anxiety

The neurotransmitters produced during the MTHFR cycle, in particular serotonin, dopamine, norepinephrine and melatonin, have important mood stabilizing effects. The decreased function of the MTHFR cycle in people with a MTHFR mutation can lead to lower levels of these neurotransmitters, increasing the risk of developing a mental health condition.

MTHFR and Anti-Depressants

In addition to increasing the odds of developing a mental health condition, an MTHFR defect can also alter the ability of a person to respond to antidepressant medications. A higher rate of non-responsiveness and/or adverse effects has been found in people with an MTHFR mutation.

MTHFR Testing

If you suspect you may have an MTHFR defect the only way to know for sure is to do a genetic test that will identify if you have a mutation in this important gene at one of two locations – known as C667T or A1298C. If you have a single mutation in one location (inherited from one parent) you have a “heterozygous” mutation – if you have two mutations in one location (inherited from both parents) then you have a “homozygous” mutation, which is generally more severe. If you have two mutations in both locations then you have a “compound homozygous” mutation, the most severe.

What to do about MTHFR

The most important thing to do about MTHFR is to support the normal function of this enzyme pathway with essential nutrients. This pathway (methylenetetrahydrofolate reductase) produces folate as one of it’s primary actions. Folate, vitamin B9, can be taken as a supplement and reduce the negative effects seen with MTHFR mutations. Avoiding things that can interfere with folate is also important – digestive diseases, poor diet, alcohol consumption and some medications (include the birth control pill). Additionally, avoiding synthetic folic acid, found mostly in processed foods (like bread, crackers and cereals), is also important as the folic acid can slow down the MTHFR cycle further.

In addition to taking a folate supplement, focusing on a healthy diet is essential for managing MTHFR. Folate comes from foliage – so eating your leafy greens, broccoli and beans can provide folate in your daily diet.

Treating MTHFR can be complex. Working with a qualified practitioner, well-versed in MTHFR is essential to improve your health and support your mind and body.

Disclaimer

The advice provided in this article is for informational purposes only. It is meant to augment and not replace consultation with a licensed health care provider. Consultation with a Naturopathic Doctor or other primary care provider is recommended for anyone suffering from a health problem.