An MTHFR gene is a genetic component of the “folate cycle” and is responsible for the conversion of folate from your diet and or supplements into an active form of folate that the body uses and needs as an essential nutrient, in other words, you can’t live without it. MTHFR is short for Methylene tetrahydrofolate reductase (MTHFR). MTHFR’s job is to break down via its enzymes the conversion of 5-10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, also known as 5-MTHF or “methyl folate” or “activated folate”. When this gene has “mutations” that are “active” gene mutations, this can result in a loss of function in your ability to convert your folate from your diet or supplements to make “activated folate”. As per the below image, you can see homozygous MTHFR, (double copies of gene mutations in red): This is a big problem; it means you don’t get enough folate into your body’s cells and the problem can cause a chain reaction of many other problems including physical and mental health problems. You effectively have a folate deficiency no matter how much you eat or supplement folate. MTHFR deficiency can also lead to elevated homocysteine levels and conditions such as homocystinuria, which may present symptoms during infancy or later in life.
As you can see this one gene mutation can cause serious health problems, but it doesn’t stop there. When you have a nutritional break in folate, the bigger problem is that folate works with all other B complex vitamins.
As you can imagine, just having active gene mutations in MTHFR can lead to a cascade of nutritional breaks in all B complex vitamins and it gets more complex, this is because B complex vitamins work with hundreds of other biochemical reactions in the body and brain.
What is folate? Folate is Vitamin B9 and is NOT the same as folic acid. (Folic acid is synthetic and is not found in nature. It must undergo various transformations for utilization.) Folate is required for the following:
For all the above functions to happen the body needs to convert folate to the active 5-MTHF (5-methyltetrahydrofolate) with the help of a number of nutritional co-factors.
This process is known as methylation. Many factors can affect methylation, however, the MTHFR gene mutation is a critical one.
MTHFR is a gene, which produces the methylenetetrahydrofolate reductase (MTHFR) enzyme. This produces the final form of folate 5-MTHF and provides the substrate for the transmethylation cycle and is found inside each cell.
The mthfr gene mutation test is relevant for understanding the implications of MTHFR mutations on health, particularly their relationship with homocysteine levels.
Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that plays a pivotal role in the body’s metabolism of folate (vitamin B9) and homocysteine, an amino acid. The MTHFR gene provides the blueprint for producing this enzyme. Specifically, the MTHFR enzyme is responsible for converting 5,10-methylenetetrahydrofolate, a form of folate, into 5-methyltetrahydrofolate. This conversion is crucial because 5-methyltetrahydrofolate is the form of folate that the body can utilize to break down homocysteine, thereby supporting various essential bodily functions.
SNPs that we currently test for:
MTHFR gene variants are genetic mutations that can affect the body’s ability to break down folate, leading to elevated homocysteine levels. These variants are inherited and can potentially result in various health issues, including increased risks for heart disease, stroke, and birth defects. Testing and dietary management are important for those affected.
Heterozygous = 1 copy of the gene from either parent
Homozygous = 1 copy of the gene from each parent (most commonly – some exceptions)
The MTHFR mutation is another significant gene mutation with potential health implications, including elevated homocysteine levels, cardiovascular disease, and thrombosis.
MTHFR C677T Heterozygous = 40% loss of function
MTHFR C677T Homozygous = 70% loss of function
MTHFR A1298C Heterozygous = (loss of function – research not known)
MTHFR A1298C Homozygous = between 50-70%
MTHFR C677T & MTHFR A1298C heterozygous = compound heterozygous = 50% loss of function
MTHFR gene mutation treatment may involve supplementation for deficiencies and specific medications to manage diseases caused by the MTHFR mutation.
When MTHFR production is reduced, the body’s ability to convert folate into its active, usable form is compromised. This impairment can lead to elevated levels of homocysteine in the blood, which is a risk factor for several health conditions, including cardiovascular disease and neural tube defects. Additionally, reduced MTHFR production can result in lower levels of methionine, an amino acid vital for numerous bodily functions. This cascade of effects underscores the importance of adequate MTHFR enzyme activity for maintaining overall health.
Elevated homocysteine levels can arise from various factors, including MTHFR gene mutations, deficiencies in vitamins B6, B12, and folate, and certain medical conditions. High homocysteine levels are associated with an increased risk of cardiovascular disease, stroke, and other health issues. Addressing high homocysteine levels typically involves identifying and treating the underlying cause. This may include supplementing with vitamins B6, B12, and folate or managing any existing medical conditions that contribute to elevated homocysteine.
An MTHFR mutation test is often ordered to diagnose elevated homocysteine levels, which can be associated with cardiovascular disease and thrombosis.
Testing for the gene MTHFR can be done in pathology or with a home test kit, see more information about testing here
What to do once you are confirmed with the mutation in the MTHFR gene. 1. Avoid all sources of folic acid. If homozygous to C677T, that includes commercial bread which is fortified with folic acid. 2. Seek professional advice as to how to bring the methylation cycle back into balance here.
The MTHFR variant is significant in genetic testing as it can influence homocysteine levels in the blood, which may pose various health risks.
Testing for the MTHFR gene variant can be particularly beneficial for individuals with a family history of cardiovascular disease, neural tube defects, or other health conditions linked to MTHFR gene mutations. It may also be recommended for those with elevated homocysteine levels or symptoms potentially related to MTHFR gene mutations. However, it’s important to note that MTHFR gene testing is not a routine procedure and is typically advised only in specific situations where there is a clear indication of potential health risks.
MTHFR is just a small part of this cycle and although restoring the deficiency due to MTHFR gene mutation may help most people, but this may not be the solution for everyone.
It is also important for individuals with MTHFR gene mutations to take folic acid daily to mitigate risks associated with fertility and pregnancy issues, ensuring proper fetal development and health.
MTHFR gene mutations have been associated with an increased risk of several health conditions, including:
It’s crucial to understand that having an MTHFR gene mutation does not guarantee the development of these health conditions. Many individuals with MTHFR gene mutations do not experience any symptoms or health problems, highlighting the complexity of genetic and environmental interactions in disease development.
For individuals with MTHFR gene mutations, dietary adjustments can play a significant role in managing their condition. Key recommendations include:
Before making any dietary changes or starting new supplements, it is essential to consult with a healthcare professional to ensure that these adjustments are appropriate and beneficial for your specific health needs.
Russell Browne is the founder and director of Natural Health Group Pty Ltd the founder of www.mthfrgenehealth.com and owner of www.MTHFRsupport.org
Russell is a published author in his field. He is a qualified practitioner of Advanced Nutrition, Advanced Herbalism, and Homeopathy. He is also qualified in Neuro-Linguistic Programming (NLP). Russell specializes in genetic nutrition, methylation, epigenetics, and nutrigenomics.
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