Personal Story:The Genetic Mutation I Never Knew I had…
MTFHR Methylenetetrahydrofolate Reductase.
Today I want to thank you for the incredible response and genuine interest in my health journey I have shared over the last few months. It's heartening to see how many of you have reached out with questions about the genetic mutation I have experienced. In light of this, I'd love to take a moment to delve a little deeper and share additional insights for those who are curious or may be going through a similar experience.
What is MTFHR methylenetetrahydrofolate reductase?
Let's begin by understanding the basic aspects. Your body's functioning relies on your genetic code, composed of billions unique copies of DNA. Although you inherit this genetic code from your parents, your DNA undergoes changes throughout your life.
Genes are a segment of DNA, and each gene provides a particular set of instructions, usually coding for a specific protein or a particular function. One such gene is MTHFR, which contains the code necessary for your body to produce methyl-folate from folate-rich foods. Methyl-folate plays a crucial role in numerous bodily processes, including the metabolism of essential nutrients and the detoxification process, which are vital for maintaining optimal bodily functions.
MTHFR is a gene that instructs the production of an enzyme called methylenetetrahydrofolate reductase (MTHFR). When you consume foods containing folic acid, MTHFR converts it into methyl-folate, which is the active form of folate in your body. Methyl-folate is essential for a process called methylation, a vital biochemical process that contributes to the proper functioning of nearly all bodily systems. It occurs billions of times per second and is involved in DNA repair, regulation of homocysteine levels (a harmful compound that can damage blood vessels), recycling of molecules needed for detoxification, mood regulation, and inflammation control. Methylation plays a crucial role in hormone processing, detoxification, optimal DNA cell function, neurotransmitter regulation, and B vitamin metabolism. MTHFR and methylation are crucial for overall health, including hormonal balance, digestion, mental well-being, behavior, and sleep.
There can be one abnormal variant (heterozygous) or two (homozygous), which are passed down from parent to child. In my case I have a double strain passed from both my parents. Gene mutations are inherited, which means you acquire them from your parents. At conception, you receive one copy of the MTHFR gene from each parent. If both have mutations, your risk of having a homozygous mutation is higher. The more variations you have, the more issues your body will have with methylating. Two copies of C677T = 60-80% loss of function
I found this video helpful-watch here
To keep methylation running smoothly you need optimal levels of B vitamins. Folate, B2, B6, B12, and betaine are all needed in adequate amounts for methylation to work as it should. Without enough, methylation breaks down, and the results can be really catastrophic.
Carrying two copies of the MTHFR gene c.665C>T variant (homozygous) and A breakdown in methylation (60-80%) puts one at a much higher risk for conditions like osteoporosis, diabetes, cervical dysplasi, chronic pain, cancer, colon cancer, lung cancer, depression, autoimmune disorders, pediatric cognitive dysfunction, fertility, mood and other behavioural disorders, dementia, and stroke.
To avoid all of these problems, the key is to maximise methylation. That means testing to find out how well your methylation is working, avoiding the things that cause your methylation to break down, and including the things that support proper methylation.
When I learnt this, I felt a huge sense of relief!! It answered so many things!!!! Chronic back pain, extreme digestive issues, and anxiety and even depression.
On a positive note, this gene mutation is one that can be maintained and corrected positively through diet, lifestyle and supplements. Thankfully, as many of you may know, our lifestyle is as natural as it can be. So I haven’t had to make too many adjustments.
After learning this, I immediately got the kids tested too. (You can Order and complete an MTHFR Gene Buccal Swab Test Kit through your practitioner) Since both the kids have one variant, (heterozygous) we take it very seriously and incorporate the lifestyle as a family. An MTHFR defect has been linked to depression, anxiety, brain fog, ADHD, Autism, Sensory modulation disorder, bipolar disorder, and even schizophrenia within in children. There is a great deal of evidence suggesting that DNA methylation defects are associated with ASDs, (Autism spectrum disorder) and the role of the methylenetetrahydrofolate reductase (MTHFR) gene in folate metabolism may contribute to epigenetic mechanisms that modify complex gene expression, thus causing autism.
(For references and articles please click the bold underlined lettering.)
Podcast-Autism: Getting To The Root Cause With Functional Medicine
WHAT TO AVOID AND WHAT TO ENHANCE.
Avoid
To simplify, it is advisable to avoid products containing added or fortified folic acid. This synthetic form of vitamin B9 can be found in fortified supplements, such as pregnancy supplements, as well as in breads, cereals, and commercially produced flours. Additionally, it is recommended to steer clear of processed foods that have synthetic folic acid added to them.
It is beneficial to reduce the consumption of inflammatory foods, including both refined sugars and natural sugars, as well as sweeteners and artificial sugar replacements.It is advisable to limit the intake of fried foods, as they can contribute to inflammation in the body. Consider reducing the amount of dairy and gluten in your diet or switching it out completely!
If you have increased intestinal permeability, commonly known as "leaky gut," there is a higher chance that your immune system may react to potentially allergenic components in milk, dairy and gluten products. You can read more about my gut health here Throughout my journey of restoring gut health, I worked closely with a team of functional medicine doctors and followed the guidance in Dr. Mark Hyman book,The Pegan Diet which focuses on a personalised, nutrient-rich, plant-based approach. The Pegan Diet, a food is medicine approach, Dr Mark Hyman explains how to take the best aspects of the paleo diet (good fats, limited refined carbs, limited sugar) and combine them with the vegan diet (lots and lots of fresh, healthy veggies) to create a delicious diet that is not only good for your brain and your body, but also good for the planet.
“And it may not be a true allergy but it just may be a sensitivity that it's triggering immune response that creates all these side effects. So if you're trying to sort of see how your body is without all the inflammatory triggers, getting it rid of dairy is key and getting rid of gluten is key.” Dr Hyman.
Many processed foods have synthetic folic acid added as well as how they’re just not healthy for you. Eat hormone free, grass-fed meats, grass-fed butter or ghee, and organic free-range eggs. The key here is to eat something the way nature intended and not how large-scale factories want it.
We make sure to wash all our fruit and vegetables with fruit and veggie soak wash.One of the most germ-prone things in your kitchen may actually be your produce!
Podcasts
How Eating An Anti-Inflammatory Diet Is Key To Regaining Your Health
What causes inflammation and how can you treat it
Maximizing Methylation: The Key to Healthy Aging
6 great books to read for people with MTFHR.
Heavy metals in diet or environment are harder to remove from the body for those with a gene defect. Remove mercury amalgams from a trained biological dentist. Avoid aluminum exposure in antiperspirants and cookware. (I use Young Living deodarant, made with essential oils and toxic free, and most of my pans are Le Cruset. I invested in my heath!) Help remove toxins using liposomal glutathione.
Reduce your exposure to toxins, use toxic free cleaning products, (thankfully we use Thieves plant based essential oils for all cleaning!) washing detergents, beauty and skincare. The fewer toxins near your body the easier time your insides have in breaking down toxins. Avoid exposure to toxins as best you can. They can inhibit methylation, among other things. Even scented candles aren’t good for you since they release harmful chemicals in the air. This is why we diffuse essential oils instead. I have a post here, why we ditched candles and fragrance in our home. We also make a lot of our own toxic free everyday products using oils.
WHAT TO ENHANCE
MTFHR Enhance (the things I did and recommended by specialists, please always do your own research. Disclaimer: I am not a licensed medical professional, and the information provided here is for educational purposes only. Please consult with your healthcare practitioner before making any changes to your medical routine.)
Get tested for your homocysteine levels and supplements with a practitioner you trust and specialises in this mutation. Every person is different!
Take supplements such as B complex (b2,6 & b12) glutathione and methylfolate 5- MTHF this essential B vitamin promotes methylation. I am taking an array of supplements and liquid vitamins from my chiropractic, functional medicine practitioner and Young Living. (Remember everyone’s supplements will differ slightly.)
Increase the amount of wholefood green leafy vegetables which are high in natural folate, the raw form is best asparagus, lettuce, kale, broccoli, spinach, Brussels sprouts, and avocados. Make sure your diet is high in protein which can easily be added to mealtimes, from animal proteins such as fish, eggs, bone broths, to seeds such as flax seed and chia seeds. Starting your day with a green smoothie is a great way to incorporate folate in a natural and absorbable form.
Ensure that you get a good level of exercise, and enjoy the outdoors and spending time in nature, move and sweat regularly and maybe end your evening by detoxifying in an Epson salt bath. I would have also suggested that it’s highly recommended to have a sauna.
Repairing the digestive system and optimising the flora (gut) should be one of the first steps in correcting a methylation deficiency, and that includes treating yeast infections such as candida because of the toxins it releases, inhibiting proper methylation. You can read more about my gut health journey here. It has changed my life!!
Manage your stress levels, by taking pilates, yoga, mindfulness or meditation. High levels of stress can exacerbate MTHFR mutation symptoms!
Keep a daily food diary of what you eat and when, as well as if you had any bad reactions or symptoms. Doing this consistently for several weeks allows you to visually identify trends between what you eat and the symptoms.
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TOP TIPS
AVOID SYNTHETIC FOLATE
GET PLENTY OF ANTIOXIDANT-RICH FOODS
INCLUDE NATURAL SOURCES OF FOLATE
FOCUS ON GUT HEALTH
REDUCE EXPOSURE TO CHEMICALS AND TOXINS
HAVE A REGULAR DETOX, THROUGH DETOX BATHS, INFARED SAUNAS AND EXERCISE.
DON’T EAT PROCESSED FOODS, AND TRY AND EAT ORGANIC (EWG, The dirty dozen best foods to eat organic, and always wash your produce)
GET YOUR HOMOCYSTEINE LEVELS MEASURED
GOOD QUALITY SUPPLEMENTATION
LASTLY, FIND A INTEGRATIVE- FUNCTIONAL MEDICINE DOCTOR THAT SPECIALISES IN THIS GENE TO WORK WITH
In summary, my health journey continues to evolve, and I have found significant relief and improved well-being through the discovery of the MTHFR mutation and the enhancement of my gut health. This discovery has had a positive impact not only on myself but also on my children. As a result, our family is committed to pursuing a lifestyle centred around Low Tox principles and intentional living. We understand that this is an ongoing process, which involves regular check-ups, the use of supplements, monitoring homocysteine levels, prioritising gut health, and making conscious choices in our daily lives.
Remember, you are not alone, and your journey towards healing is worth every effort. If just one person finds comfort, motivation, or a sense of camaraderie through my words, I would consider this post a success!
Thank you for listening, until next time friends… x
Disclaimer: I am not a licensed medical professional, and the information provided here is for educational purposes only. Please consult with your healthcare practitioner before making any changes to your medical routine. For all questions on essential oils. Please read here.