In recent years, the field of genetics has brought about a deeper understanding of how our genes influence various aspects of our health. One such gene that has gained attention for its potential impact on well-being is the MTHFR gene. This gene plays a crucial role in methylation, a process vital for numerous bodily functions.
What is MTHFR?
The MTHFR gene codes for an enzyme called methylenetetrahydrofolate reductase (yes, a handful to say so let’s keep referring to it as MTHFR for ease) an enzyme involved in the methylation process, which is essential for the conversion of folate (vitamin B9) into its active form, methyl folate. Methylation is a biochemical process crucial for DNA synthesis, repair, genetic expression, neurotransmitter production, and detoxification (to put it simply). This multi-step chemical process transforms a by-product known as homocysteine, into methionine, an important building block in protein formation and SAMe, a universal methyl donor. SAMe provides the methyl groups to hundreds of different biochemical processes in the body.
MTHFR Gene Mutations:
MTHFR gene mutations are genetic variations that affect the efficiency of the MTHFR enzyme. There are over 40 variations but the two that we know carry the most significant concerns for potential disease are C677T and A1298C. We get once copy of each from both of our parents so we can either have one (heterozygous) or two (homozygous) variations.
Studies have found that around 60-70% will have at least 1 of these variants and around 10% will have two (two being more severe). The most notable concern and potential for negative effects is a mutation on the C677T gene.
The following is a list of the various health conditions and concerns MTHFR gene mutations have been associated with:
Increased homocysteine: high levels of homocysteine and lack of methylation have been associated with blood vessel damage, inflammation and increased risk of heart disease.
Reduced methylation: Reduced methylation can impact hormone balance, fat metabolism, thyroid, anxiety, depression (& other neurological conditions such as ADHD, autism and bipolar) & autoimmune conditions
Folate & B12 deficiencies: MTHFR mutations may hinder the conversion of folate into methylfolate, affecting the body's ability to utilize this crucial B-vitamin for various functions. Proper functioning MTHFR genes are also fundamental for the utilisation of B12, an essential vitamin for red blood cell formation, neurological function, and DNA synthesis.
Neurological Conditions: Methylation is vital for the production of neurotransmitters like serotonin and dopamine. MTHFR mutations have been studied in relation to conditions such as depression, anxiety, and other neurological disorders.
Pregnancy Complications: MTHFR mutations may be associated with an increased risk of pregnancy complications, such as neural tube defects (due to folate deficiency). Proper folate metabolism is crucial for fetal development, and disruptions in this process can have consequences during pregnancy (IF not managed properly). MTHFR has also been associated with miscarriages.
Managing MTHFR Mutations:
While all of this may sound scary, the presence of MTHFR gene mutations does not mean you are automatically going to experience all of these listed or that you need high dose vitamins to offset this. If you do have an MTHFR gene mutation, your risk factors can be extremely low with the right support and diet. It is so common to have an MTHFR gene mutation and it’s not all doom and gloom but I like to be proactive in my health care and support my body with what it needs before disease arises, this is why I love gene testing. I will discuss this in another blog post but for now, let’s discuss what you need to do if you have an MTHFR gene mutation.
Dietary Changes: Ensure a diet rich in natural folate sources, including leafy greens & organ meats. Include sulfur rich vegetables such as broccoli, cauliflower, onions, garlic, mushrooms to support methylation.
Avoid foods and supplements fortified with synthetic folic acid (majority of commercial breads will have added folic acid) and many multi-vitamins. Synthetic folic acid can block the receptor sites and due to reduced functioning of the MTHFR enzyme, you won’t be able to convert folic acid into methyl folate.
Additionally, consider supplementation with active Bs containing methylfolate and B12.
Lifestyle Modifications: Adopting a healthy lifestyle with regular exercise, stress management, and sufficient sleep can positively impact overall well-being.
Test don’t just guess and supplement. Get your MTHFR gene checked along with B12, folate and homocysteine. Discuss the results with a functional practitioner trained in optimal lab ranges.
Detox: support your detoxification pathways regularly with saunas, movement (sweating), fasting, turmeric, green tea & other detoxifying nutrients.
Avoid toxins as much as possible due to reduced detoxification capacity.
Consider working with a holistic practitioner to further guide and support you. Healing is not a quick fix, it’s a journey that takes time, support and the right guidance.
Final Message
MTHFR gene mutations can impact individuals in various ways and can have far-reaching effects on health and wellbeing. It is however important to know that MTHFR gene mutations can be managed with ease with the right support and guidance. The presence of an MTHFR gene mutation may not be an issue for you either as you may still have enough functioning of the enzyme or consume the right diet to support your methylation pathways.
For more support, please contact Allison for a free call to discuss your health concern and how we can support you.
Sunstone Naturopathy, formerly Allison Buckley Naturopath, is an online clinic specialising in Women’s Health. We are dedicated to nurturing your body's innate healing process by blending the best of evidence-based medicine and holistic practices. Our approach utilises functional labs and harnesses the power of herbal medicine, carefully selected nutraceuticals, personalised nutritional and lifestyle guidance, alongside mindset support to offer a unique healing journey personalised to you. It’s time to experience a different kind of healthcare, one that supports you and guides you towards the healthiest, most vibrant version of you.
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