MTHFR- What You Need To Know

Methylation deficiencies and a defect in MTHFR are linked to many conditions/symptoms, including:


Frequent miscarriages


Hashimoto’s or Hypothyroidism

Delayed Speech


Bipolar or manic depression

Heart disease


Chronic Fatigue Syndrome


Autoimmune Conditions


MTHFR (methylenetetrahydrafolate-reductase) is a much needed enzyme in the body. It’s required for processing methylation and converting folic acid/folate in to an active form that the body can use. MTHFR is needed for many functions of the body including: repairing DNA, switching genes off and on, processing chemicals, hormones, building the immune system, producing energy and maintaining cells.

Not to be confused with the enzyme, the MTHFR gene provides the instructions for making that MTHFR enzyme—therefore, “triggering” the production of the enzyme. A mutation in the MTHFR gene may therefore affect enzyme function.
MTHFR gene mutations are thought to affect up to about 60% of the population.

Researchers suspect there may be at least 30 different types of this gene mutation with C677T and A1298C being the most studied and tested of these mutations. {This number and letter sequence refers to what is known as a single nucleotide polymorphism or SNP (pronounced “snip”).}

Having a gene with a mutation does not mean that the gene is defective or nonfunctioning, only that it is working with an altered efficiency.

Although mutations can occur at any time during our lifetime, it is most likely that we are born with these mutations and will have them throughout our life.

This may provide an explanation as to why certain traits or diseases "run in the family".

Although we cannot change our genetic code, we can change how our genes are expressed.

Research has determined that our gene expression is not only distinguished by hereditary factors, but it is also influenced by our diet, nutritional status, toxic load and environmental influences or stressors. This phenomenon has been termed "epigenetics".

MTHFR dramatically affects Homocysteine- an amino acid linked to a wide range of health problems, and is an independent risk factor for heart disease, stroke and other forms of cardiovascular disease. It is naturally formed in the body, but gets broken down by L-methylfolate (active folate). Due to MTHFR restricting active folate, homocysteine is significantly affected by this gene mutation.

MTHFR mutations don’t directly make you unwell.

Rather, they may cause an exaggerated response to poor diet or environmental factors that others can “get away with”.

If you lack vitamins and minerals as result of a poor diet, digestion or absorption, it limits the body’s ability to have proper methylation.


Because these nutrients are needed to help make the most active form of folate in your body known as methylfolate. There are several of the B vitamins that require activation before they are useful to the body.

This is why dietary considerations are so important for certain MTHFR mutations.

For instance, when people with an MTHFR genetic mutation are exposed to certain environmental factors (chemicals, food, poor air quality, vaccines, medications, etc), they have a harder time getting rid of them, which can cause immune dysfunction leading to many chronic conditions.

One of the ways the MTHFR gene mutation can make you susceptible to certain conditions is by lowering the body’s ability to make glutathione. People with MTHFR irregularities typically have low glutathione, which makes them more susceptible to stress and less tolerant to toxic exposures.

As the saying goes, “Genes load the gun, environment pulls the trigger.”




Shawna Kunselman, MSACN



Bjelland I, Tell GS, Vollset SE, Refsum H, Ueland PM. Folate, vitamin
B12, homocysteine, and the MTHFR 677CT polymorphism in anxiety
and depression: the Hordaland Homocysteine Study, Arch Gen Psychiatry, 2003;60:618-626

Boris, M., MD,, Association of MTHFR Gene Variants with Autism, Journal of American Physicians and Surgeons Volume 9 Number 4 Winter 2004

Rosenblatt D. Methylenetetrahydrofolate reductase., Clinic of Investigative Medicine 2001;24:56-59

autism, behavior, help, interventions

Helping My Child With Autism. Where Do I Start?

Prior to 1980, autism was only seen in approximately 1 in 10,000 kids. Now, according to the CDC, autism rates are 1 in 45.

There are many pieces to the autism puzzle.


The medical community agrees that there are multiple factors involved in autism and it is the general consensus that it is caused by a combination of genetic and environmental triggers.


The GI tract is now referred to as the “Second Brain” and contains 100’s of millions of neurons—more than the peripheral nervous system. Genetic factors such as MTHFR, and environmental factors, such as nutrient deficiencies, toxins, antibiotics, gut dysbiosis and food intolerances all influence inflammation and the gut/brain barrier. Getting to these core concepts can result in better communication, more focus and concentration and improved behaviors.


An increasing number of parents are seeking biomedical interventions for their children on the autism spectrum as well as for ADHD.

Clinical nutrition for autism and other behavioral conditions addresses some of the biomedical theories related to autism. The four main areas addressed under this approach are gastrointestinal abnormalities, immune dysfunctions, detoxification abnormalities, and/or nutritional deficiencies/ imbalances.

Addressing these issues can help control specific behaviors associated with these conditions!

It is often wondered how the gut can cause certain “autistic behaviors”. The medical literature is revealing that an imbalanced microbiome combined with “leaky gut” can cause an inflammatory immune response in the brain.

What about Genetics?

There are many aspects to genetics in autism. There is continuous research in this area as well. However, as we are finding out, genetics just sets things up ….there is something environmentally that triggers the spiral. A lot of this genetic research is focused on methylation and detoxification.  According to University of California Davis, “nutritional genomics, or nutrigenomics, is the study of how foods affect our genes and how individual genetic differences can affect the way we respond to nutrients (and other naturally occurring compounds) in the foods we eat.” Genetics cannot be fixed…however, supporting the system can make a profound difference in prevention and treatment of certain conditions.

One of the most commonly discussed methylation and detoxification genetic mutations is MTHFR (Methylenetetrahydrofolate Reductase). It is estimated that up to 60% of the population has MTHFR. This specific mutation causes an interruption in the methylation pathway which assists the body in converting folic acid/folate to its useable form. Additionally, those with MTHFR have a reduced ability to eliminate toxins and heavy metals.

This mutation has been linked to many ailments, not just autism. It is important to note that having MTHFR does not mean autism or another condition is going to happen. It is just something to be aware of so the body can be supported appropriately.


What can be done?

  1. Heal the gut.

 This is done by removing problematic, inflammatory foods which are heightening the immune response in the body. Also, adding in reparative nutrients and supplements that will help the body to rebuild and repair tissue in gut lining. Many people see incredible positive changes in autistic behaviors just by taking addressing this core issue.


  1. Dietary Changes.

Up to 80% of parents report marked improvement by removing gluten and casein from their child’s diet. There is so much science behind this, but it leads back to inflammation and “leaky gut”.


  1. Supporting the immune system.

There are many natural ways to do this through dietary means and herbs. One of my favorite additions is elderberry syrup which has loads of benefits and anti-viral properties.


  1. Full Integrative Approach.

There are many modalities that can improve autism behaviors and symptoms. Speech therapy, ABA therapy, Music therapy, Martial Arts, Occupational Therapy, Physical Therapy, Chiropractic Care, Massage (specifically Craniosacral work), Equine Therapy, and Pet Therapy. These are some that we have engaged in over the years with much success from each one. I believe a wide variety of therapies is the best intervention.


For questions or further information, feel free to Contact Me directly.


Shaik Mohammad N, et. al, Clinical utility of folate pathway genetic polymorphisms in the diagnosis of autism spectrum disorders., Psychiatr Genet. 2016 Dec;26(6):281-286




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