So, what is MTHFR?

I know it sounds a bit rude, but no, it’s not that. It stands for methylenetetrahydrofolate reductase. Now you know why we call it MTHFR for short. It’s all about one of the most important biological pathways in the body, the methylation pathway. One of the main functions of methylation is to inhibit the expression of certain genes in order to prevent diseases such as cancer. It acts like a switch to turn genes off, but it also assists with repairing DNA, neurotransmitter production, detoxification, the stress response, inflammation, the immune response, energy production and fertility. It is estimated that between 30% to 50% of the population have a polymorphysm or SNP (pronounced snip) on the MTHFR gene, so let’s have a look into this in a bit more detail.

What is a Gene?


Its difficult getting an accurate account of the number of genes in the human genome. Estimates vary widely between 21,500 and 46,000, depending on what you read. We each have two sets of genes, one set is inherited from your father and one set is inherited from your mother. Genes are strands of DNA that contain the base chemicals Adenine (A), Thymine (T), Cytosine (C) and Guanine (G) which are paired together as AT or TA and GC or CG. The sequence of base pairs can vary from 1,000 to millions of base pairs in a gene. Basically, genes store information about your chemical and biological makeup and contain instructions for your body to build various proteins for use in any part of your body. They determine things like your eye colour, hair colour and physical characteristics.

What is a SNP?

MTHFR, MTHFR SNP, SNP, polymorphism, Gene

Sometimes there can be an error in the gene sequence called a single nucleotide polymorphism, also known as a SNP (pronounced ‘snip’). To illustrate, let’s consider the base pair TA. When a SNP occurs, this might translate as AA, AT or TT. They are similar to the intended TA but are slightly different. A lot of us have these SNP’s and most of them make no discernible difference to how our body functions, however, some can impact upon our health. One such SNP is on the MTHFR gene.


There are a number of different MTHFR polymorphisms, the 2 most studied being the C677T SNP and the A1298C SNP. The C677T SNP is the most studied and is associated with high levels of cardiovascular disease, neural tube defects and mental health conditions. The A1298C SNP is less studied however, it is associated with dysfunction of neurotransmitter production and therefore it is also associated with mental health problems such as depression, bipolar, schizophrenia, behavioral problems, ADD and ADHD.

How does a MTHFR SNP affect me?

We all have 2 copies of the MTHFR gene; however, it is possible to inherit a mutation from one parent, or both parents.  A single, or ‘heterozygous’ SNP on C677T, can result in a loss of function by 40%, whereas, a double, or homozygous SNP, can result in a 70% loss of function. A heterozygous SNP on A1298C can result in a loss of function by 30%, while a homozygous SNP can result in a 40% loss of function. Both of these SNP’s have an impact on mental health and it is possible for an individual to have the double impact of having both SNP’s.

These MTHFR gene SNP’s, particularly C677T, can reduce our ability to metabolise folate and this can lead to elevated levels of an amino acid called Homocysteine. High levels of homocysteine can be quite dangerous and are associated with the following conditions.

·         Atherosclerosis ·         Heart disease
·         Blood clots ·         Pulmonary embolism
·         Hypertension ·         Stroke
·         Depression ·         Bipolar disorder
·         Dementia ·         Schizophrenia
·         Eating disorders ·         Addictions
·         Autism ·         ADHA
·         Parkinson’s disease ·         Post-natal depression
·         Fibromyalgia ·         Chronic fatigue syndrome
·         Type 1 diabetes ·         Asthma
·         Multiple sclerosis ·         Bowel cancer
·         Breast cancer ·         Prostate cancer
·         Cervical cancer ·         Pancreatic cancer
·         Lung cancer ·         Leukemia
·         Neural tube defects ·         Recurrent miscarriage


Although this list looks scary, it is important to note that just because you may have a MTHFR SNP, it doesn’t mean that you will contract these conditions. It just means that there is a susceptibility if homocysteine isn’t being properly recycled to methionine.  Consuming a healthy diet and getting enough exercise can prevent these conditions and those with a MTHFR polymorphism may benefit greatly from nutrient supplements.

MTHFR and Mental Health

Dr Carl Pfeiffer was a US physician and biochemist who dedicated his life to the study of mental illness. He noted that histamine levels played a significant role in mental illness and measured the histamine levels in all of his patients. As histamine is cleared via the methylation cycle, he realized that individuals who had problems with the cycle were likely to have a mental health problem and from this the terms ‘undermethylators’ and ‘overmethylators’ were coined.

Undermethylators tend to have higher blood levels of histamine and are likely to have lower levels of serotonin and dopamine.  They may exhibit signs of depression, obsessive compulsive disorder, addictions and eating disorders. Undermethylators seem to benefit from a protein rich diet.

Overmethylators tend to have lower blood histamine levels and high levels of serotonin and dopamine. They are also likely to have a deficiency of folate, vitamin B12 and possibly have high copper levels. They have a tendency towards anxiety, panic, post-partum depression, depression, paranoia and schizophrenia. Overmethylators seem to benefit from a plant based diet, rich in folate.

What is being tested?

We offer MTHFR testing in our Beenleigh office, conveniently located half way between Brisbane and the Gold Coast.Testing for MTHFR polymorphisms is done through a saliva sample, a swab of the inside of the cheek. We provide a Wellbeing Bundle which identifies the key MTHFR SNPs and how they impact various processes in the body, including the following

Methylation                           Neurotransmitter production and function

Hormone metabolism           Detoxification

Antioxidant status                  Nutrient metabolism, transport , absorption

Energy metabolism               Cardiovascular disease risk

DNA expression


Initial consultation, MTHFR Wellbeing bundle test and follow up consultation    $559   Schedule Appointment
To find out if you have an MTHFR SNP and how to support your biological pathways, book an appointment now.


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