Understanding MTHFR: The Gene, the Myths, and What Really Matters
What Is MTHFR?
The MTHFR gene makes an enzyme called methylenetetrahydrofolate reductase. This enzyme is central helping convert folate or folic acid (vitamin B9) into an active form, 5-methyl folate, that the body can use to recycle an amino acid called homocysteine into methionine —crucial for DNA repair, detox and methylation, and hormone regulation, preventing depression, heart attack and stroke and cancer. We do not make methyl folate and it’s not in our foods. Folate or folic acid is readily available in food and vitamins but with MTHFR deficiency we either don’t convert folate or folic acid into methyl folate causing a deficiency.
There are two common genetic variants – C677T and A1298C – that can reduce enzyme activity in some individuals. These variants are common and can cause no disease or symptoms can be very profound. Because there are various types and combinations of the genes, the level of effects for each individual can vary from none to severe.
MTHFR Effects:
Raised Homocysteine:
Increased homocysteine levels – a condition called hyperhomocysteinemia – can impact cardiovascular health and increase the risk of heart attack and stroke, cause neurological issues such as neuropathy and dementia, and appear in conditions like homocystinuria and more.
Affects Brain Chemistry:
If you don’t make methyl folate you affect your brain chemistry. Decrease in brain chemistry means anxiety, depression, ADHD symptoms, and can even cause Schizophrenia.
Mitochondrial Dysfunction:
Lack of methyl folate causes a decrease in the cell’s powerhouse organ called the mitochondria which produces all your energy and repairs and detoxes the cell and therefore the body. ATP is normally produced by the mitochondria to supply energy to the body like gas to a car. If the body doesn’t make ATP and it runs out of gas then the body increases adrenal drive, epinephrine, cortisol, and other adrenaline substances that then cause inflammation, palpitations, fast heart rate, anxiety and more. You become more tired and fatigued from cortisol dysfunction.
Neurological Dysfunction:
Continuing on mitochondrial dysfunction and inability to detox, you may also develop the inability to hold a thought or word recall and memory issues. Have you “lost your words” in the middle of a thought or lost track of what you were saying or trying to say? Do you walk into a room and wonder why you went there, etc…?
Birth Defects Called Neural Tube Defects
Women often are told to take increased amounts of folic acid to prevent neural tube defects in pregnancy like spinal bifida, etc. The problem in MTHFR is lack of ability to convert folic acid to methyl folate or reducing the amount converted, therefore negating taking the vitamin. The vitamin is rendered useless if it’s not converted and therefore the risk is still high.
And more…
Frequently Ignored:
Medical guidelines do not recommend routine MTHFR testing as contemporary medicine often considers MRHFR testing unnecessary and unimportant. Over 60% of the population has this genetic defect but the effects are variable and symptoms seem to get worse as we age. Cardiovascular disease and cancer are the leading causes of death in the US and MTHFR can play an enormous role, but yet is infrequently tested and treated. Dementia is quickly catching up as a common issue and diagnosis. Most over the counter vitamins contain only folic acid and not methyl folate because folic acid is cheaper. The same truth for B-12 which is also important to methylation and more. Methylated B-12 is more expensive and usually not included in many vitamin brands but the methylated version is much more effective. Doctors do not test nor educate, and insurances frequently do not cover the cost of the test, therefore many are left with debilitating symptoms or serious increase in the risk of disease.
What You Can Do: NuBloom Style
1: Testing
Many times doctors and providers test folate levels but that is folic acid not methyl folate so levels can be normal. Most doctors and providers also do not check homocysteine. Even with normal Homocystine levels you can still have the genetic mutation and still have risks and symptoms. Many providers do not understand or know the appropriate reference ranges for levels of B12, folate and homocysteine. MTHFR does not have to be tested for everyone, but if you suspect issues, ask your provider for a blood test, a cheek swab, or genetic testing. Tests are not expensive and are available outside of your provider’s orders and with a lack of insurance coverage – but please do not test and interpret results on your own. NuBloom routinely tests homocysteine and potentially MTHFR after careful evaluation. If testing is indicated, the providers at NuBloom will do so.
- Treatment
Folic acid or folate is an important part of your diet so increase natural forms of folate found in leafy greens, legumes, and fortified grains for example. Getting enough folate matters, but if you are at risk NuBloom providers will ensure you receive the correct nutrition and supplementation appropriate to your needs. Supplements have risks and a variety of dosing levels – clients need guidance as to quality and quantity taken.
3: Support Methylation with a Balanced Approach
We also test B12 levels. B12 is also important to methylation and the body’s health, but can be tricky to understand. Some providers also lack understanding of lab reference ranges and appropriate therapies. Many vitamins inappropriately contain the cheaper version cyanocobalamin instead of methylated B12. Eating folate-rich foods + B6 + B12 + staying hydrated and managing stress supports methylation pathways more broadly – and sleep, and balanced metabolism are your healing foundations. You may need an adjustment to your nutritional supplementation to ensure good health if you have this mutation. Mutations are individual as are needs. We can help you find your balance.
A NuBloom Reminder:
- Having an MTHFR variant doesn’t mean you’re broken.
- Methylation is a system; nourish it through food, rest, and metabolic care.
- Healing isn’t about genes alone, it’s about supporting whole-person vitality.
Think of MTHFR as an interesting clue in your biology, not a verdict. If something shows up in a test, focus on what supports your metabolism instead of chasing rare genetic labels.
This content is for informational and educational purposes only and is not intended to diagnose, treat, or replace professional medical advice. Always consult your healthcare provider before starting any new supplement, medication, or wellness program. NuBloom provides access to licensed medical professionals through individualized programs, but blog content does not establish a provider-patient relationship. Bloom wisely.