MTHFR Basics

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

ADHD

Frequent miscarriages

Autism

Hashimoto’s or Hypothyroidism

Delayed Speech

Headaches

Bipolar or manic depression

Heart disease

Diabetes

Chronic Fatigue Syndrome

IBS

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.

Why?

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.”

References:

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, et.al, 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