In recent years, you may have heard the term MTHFR thrown around in discussions about genetics and health. But what exactly is it, and how does it impact your wellbeing ? Let's explore the details of this gene, it's role in your body, and why it's important to understand how it affects your health.
What is MTHFR ?
MTHFR stands for methylenetetrahydrofolate reductase, which is an enzyme encoded by the MTHFR gene. This enzyme plays a crucial role in the process of converting folate (vitamin B9) into its active form, which is necessary for many bodily functions, including DNA synthesis, repair, and detoxification.
The MTHFR gene can have variants, commonly referred to as polymorphisms. The two most studied variants are C677T and A1298C.
These variations can affect the enzyme's activity, reducing its efficiency, and may lead to issues with methylation - a key biochemical process that regulates many functions, including gene expression and detoxification.
How Common Are MTHFR Variants ?
MTHFR variants are relatively common. Studies suggest that up to 40% of the population may carry at least one of the two main MTHFR polymorphisms (C677T or A1298C).
How to Determine Your MTHFR Status
Before diving into more advanced genetic testing, the first step is to check for MTHFR polymorphisms:
Blood Test: A blood test can measure homocysteine levels in your blood. Elevated levels of homocysteine might suggest that you have a variant of the MTHFR gene, as reduced enzyme function may impair your ability to break down homocysteine effectively.
MTHFR genotyping blood tests are also available which can identify genetic variations in the MTHFR gene, such as the C677T or A1298C variants.
Buccal Swab (Cheek Swab): A buccal swab is a non-invasive method where cells are collected from the inside of your cheek. This sample can be analysed to determine if you carry specific MTHFR variants, such as the C677T or A1298C polymorphisms. This test is quick, painless, and widely available through various health practitioners.
These initial tests can provide valuable insights into your methylation pathways and indicate if further genetic testing might be beneficial.
How does MTHFR Impact Your Health ?
If you have one or two copies of a less efficient MTHFR variant, you may have a reduced ability to convert folate into its usable form. This can lead to a variety of health issues, including:
Elevated Homocysteine Levels: A key function of the MTHFR enzyme is to help convert homocysteine from methionine, via the process of remethylation. Impaired MTHFR function can lead to elevated homocysteine levels, which are linked to an increased risk of developing cardiovascular diseases.
Mental Health Disorders: Methylation also affects the production of neurotransmitters, like serotonin and dopamine. Variants in the MTHFR gene have been associated with mood disorders including anxiety and depression.
Fertility and Pregnancy Complications: Adequate methylation is vital during pregnancy for fetal development, particularly for neural tube formation. MTHFR variants can lead to folate deficiency, potentially increasing the risk of neural tube defects or complications like preeclampsia.
Detoxification and Inflammation: A properly functioning methylation cycle supports the body's detoxification processes and helps regulate inflammation. Impaired MTHFR function may contribute to poor detoxification, leading to toxin build up and inflammation.
Moving Toward Genetic Testing
Once you've undergone initial testing, further investigation using more comprehensive genetic testing may be recommended. This allows for a deeper dive into your genetic makeup, not just for MTHFR but for other important genes that may impact your health.
Smart DNA is an excellent tool that I use in my clinic to help clients understand their genetic profile, including any MTHFR gene variations. This test provides a comprehensive look at your DNA and offers valuable insights into how your genetic makeup may be influencing your health. Knowing your status can help you take steps to support your methylation pathways more effectively.
How to Support Methylation if You Have an MTHFR Variant
If you have one or more MTHFR polymorphisms, there are steps you can take to optimise your health and support methylation:
Get the Right Type of Folate: Instead of folic acid (the synthetic form of folate), look for methylated folate (5MTHF) in supplements. This is the active form that your body can use. So why is it important to avoid folic acid ? Folic Acid is the synthetic form of folate found in fortified foods and supplements. Once consumed, it needs to be converted into its active form, 5-methyltetrahydrofolate (5-MTHF), before the body can use it. For those with MTHFR variants, this conversion process is impaired. As a result, folic acid won't be converted to its active form, resulting in a folate deficiency, despite adequate intake. There's a lot more on why to avoid folic acid, but I'll share in another blog :)
Balance B Vitamins: Along with methylated folate, vitamins B6 and B12 are essential for supporting methylation. Look for supplements that contain these vitamins in their bioactive forms, like pyridoxal-5-phosphate (B6) and methylcobalamin (B12).
Optimise Your Nutrition: Focus on a diet rich in natural folate sources such as dark leafy greens, avocados, asparagus and lentils. Wholefoods rich in antioxidants and inti-inflammatory properties will also support your overall health and methylation.
Manage Stress: Chronic stress can exacerbate the negative effects of poor methylation. Incorporating stress-reducing practices like meditation or breath work and yoga, can help balance methylation pathways.
Understanding your MTHFR status can empower you to take control of your health. Starting with blood tests or buccal swabs can give you essential insights, while genetic testing such as Smart DNA can provide a more comprehensive understanding. With the right nutritional and lifestyle strategies, you can support your methylation pathways and reduce the risks associated with impaired MTHFR function. If you're interested in testing or personalised advice, consider scheduling a Discovery Call with me to explore your options for a comprehensive health plan.
References
Molecular Biology of Methylenetetrahydrofolate Reductase (MTHFR) and Overview of Mutations/Polymorphisms https://www.ncbi.nlm.nih.gov/books/NBK6561/
Hechtman, L 2020, Advanced Clinical Naturopathic Medicine, Elsevier, Australia
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