Does the MTHFR gene matter, how much and to whom?

The answer is yes, about 40-60% of the western population has impaired MTHFR functioning and this might explain who is currently living and who is dying

I am unvaxxed

The information provided on this article does not, and is not intended to, constitute medical advice; instead, all information, content, and materials available on this site are for general informational purposes only. 

I am asking the question

I don’t have the answers, but I think this whole issue of the MTHFR gene may be far more significant than we think. For anyone who is currently sick with something vague and unspecified but seriously debilitating, I strongly recommend that you find out about the MTHFR gene. Your “cure” may be as simple as an unusual form of a single B vitamin (and maybe not, but we can live in hope)!

We normally write articles when we know what we are writing about. I am writing this article seriously prematurely, because I think we need lots of us doing this research. Why? Because what we discover will strengthen an entirely new and vastly more effective branch of medicine, freeing us from the fathomless medical mess we are currently drowning in, and we all need that.

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The prevalence of the MTHFR gene mutations

Me: How common is the mutation of the MTHFR gene and in what demographic?

ChatGPT: MTHFR gene mutations are relatively common, and their prevalence can vary significantly depending on geographic and ethnic background. The most studied mutations of the MTHFR gene are C677T and A1298C, with different frequencies observed in various populations.

Prevalence of the C677T Mutation:

• Caucasian populations: This mutation is particularly common in people of European descent, with 30-50% of the population carrying at least one copy of the C677T variant (heterozygous). Around 10-20% may carry two copies (homozygous), which is associated with more severe enzyme activity reduction.

• Hispanic populations: The prevalence is relatively high, similar to Caucasians, with around 32-53% being heterozygous and up to 14-21% homozygous.

• Asian populations: There is a high occurrence of this mutation in East Asians (e.g., Chinese, Japanese). About 30-45% are heterozygous, and around 10-15% may be homozygous.

• African populations: This mutation is much less common in African and African-American populations. Around 10-12% are heterozygous, and homozygosity is rare (about 1-2%).

Prevalence of the A1298C Mutation:

• Caucasian populations: A1298C is also prevalent in Europeans, with about 25-35% being heterozygous, and around 10-15% homozygous.

• Asian populations: This mutation is less common in Asians compared to the C677T variant, but there are still significant carriers, with 15-25% being heterozygous and a smaller percentage being homozygous.

• African populations: Similar to the C677T variant, the A1298C mutation is rarer in African populations, with 5-10% heterozygous and low homozygosity rates.

General Summary:

• C677T is more common in Europeans, Hispanics, and Asians but less common in Africans.

• A1298C is also relatively common but has a slightly different distribution, with lower prevalence in Asian populations compared to C677T.

Since both variants can occur in the same individual (compound heterozygous), they might have combined effects, but the clinical implications vary. Many people with one copy of either mutation are asymptomatic and do not experience health issues unless other factors (e.g., diet, lifestyle, or additional genetic variations) contribute.

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What does the MTHFR gene mutation do?

Me: Can you provide a simple set of steps that explains just what the MTHFR gene does, from the point of ingesting nutriments, through the processing of those nutriments, through to shortfalls in the processed nutriments, through to possible diseases that result?

ChatGPT: Sure! Here's a simplified breakdown of what the MTHFR gene does and how mutations can lead to health issues:

1. Ingestion of Nutrients (Folate and Homocysteine Metabolism)

• When you eat foods rich in folate (like leafy greens) or take folic acid supplements, your body needs to convert these into the active form, 5-MTHF (5-methyltetrahydrofolate).

• Folate is essential for many functions, but its most important role is in the methylation cycle, which involves converting homocysteine into methionine, an amino acid that the body uses for DNA synthesis, detoxification, and neurotransmitter regulation.

2. Role of the MTHFR Gene

• The MTHFR enzyme, produced by the MTHFR gene, is responsible for converting inactive folate into 5-MTHF.

• 5-MTHF then helps convert homocysteine into methionine by donating a methyl group (in the methylation process). Methionine is used to produce important compounds like SAMe (S-adenosylmethionine), which supports mood regulation, detoxification, and DNA methylation.

3. What Happens in MTHFR Gene Mutations

• If you have an MTHFR mutation, such as C677T or A1298C, the enzyme works less efficiently (often 30–70% less active depending on the mutation). This leads to:

  • Less 5-MTHF being produced, reducing the amount of active folate available for critical processes.

  • Elevated homocysteine levels in the blood, because the body can't convert it to methionine as efficiently.

4. Shortfalls in Processed Nutrients

• The shortfall of active folate and the buildup of homocysteine can create several issues:

  • Methylation problems: Methylation is needed for making neurotransmitters, repairing DNA, and detoxifying harmful substances.

  • Detoxification issues: Less effective detox pathways lead to a buildup of toxins, oxidative stress, and inflammation.

  • DNA repair issues: Impaired DNA methylation can lead to errors in DNA replication, contributing to the development of diseases.

5. Potential Health Implications of MTHFR Mutations

• Cardiovascular disease: High homocysteine levels are associated with an increased risk of heart disease, stroke, and blood clotting disorders.

• Neurodevelopmental and mental health disorders: Since methylation is essential for neurotransmitter production, MTHFR mutations have been linked to depression, anxiety, bipolar disorder, ADHD, and even autism.

• Pregnancy complications: MTHFR mutations can increase the risk of miscarriage, neural tube defects (e.g., spina bifida), and preeclampsia due to folate deficiency.

• Cognitive issues: Impaired methylation and detoxification can lead to cognitive decline and increase the risk of Alzheimer’s and other neurodegenerative diseases.

• Chronic inflammation and oxidative stress: Lack of detoxification and increased homocysteine can result in chronic inflammation, contributing to autoimmune conditions and accelerated aging.

Summary of the Process:

1. Ingestion: Folate from diet or folic acid supplements enters the body.

2. MTHFR enzyme: Converts inactive folate to 5-MTHF (active folate) to participate in the methylation cycle.

3. Homocysteine conversion: 5-MTHF converts homocysteine into methionine.

4. Shortfalls: If MTHFR is mutated, there’s a shortfall in 5-MTHF, leading to elevated homocysteine.

5. Health consequences: This affects detoxification, DNA repair, neurotransmitter production, and raises the risk of heart disease, cognitive disorders, and pregnancy complications.

By supporting methylation with proper nutrients (like methylfolate, B12, B6), the negative impacts of MTHFR mutations can often be mitigated.

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Can the MTHFR gene mutations be switched on and off?

ME: If a person has the variation on the MTHFR gene, can this gene in some way be switched on and off, and what would be the implications?

ChatGPT: The MTHFR (methylenetetrahydrofolate reductase) gene variation refers to specific mutations that can affect how efficiently your body processes folate and homocysteine. The two most studied mutations are C677T and A1298C, which can result in reduced enzyme function, leading to potential health issues like higher levels of homocysteine, increased risk of cardiovascular disease, neurological problems, and impaired detoxification.

Gene "switching" refers to the concept of gene expression regulation, where environmental factors, nutrients, and epigenetic changes can influence how much a gene is expressed, rather than directly "turning it on or off." This is important because even if someone has an MTHFR mutation, gene expression could potentially be modified by lifestyle factors. Here's how:

Nutritional and Epigenetic Modulation of MTHFR:

1. Methylation Support: Since MTHFR mutations can impair methylation, you can support the methylation cycle by taking the active forms of certain vitamins:

   • Methylfolate: This is the bioactive form of folate that bypasses the MTHFR enzyme.

   • Methylcobalamin (Vitamin B12): Supports methylation.

   • Vitamin B6: Another cofactor that aids in homocysteine metabolism.

2. Diet and Lifestyle:

   • Avoiding folic acid: People with MTHFR mutations might have trouble converting synthetic folic acid into the active form. It's better to get folate from natural sources or supplements with methylfolate.

   • Managing homocysteine levels: By supporting methylation and reducing homocysteine levels, you reduce the risk of cardiovascular and neurodegenerative diseases.

   • Stress reduction: Chronic stress can impair methylation processes.

   • Detoxification: Supporting liver detox pathways can help reduce oxidative stress and support overall methylation.

3. Epigenetic Changes:

   • Environmental toxins, stress, diet, and exercise can influence gene expression. By improving your environment and managing lifestyle factors, you may reduce the negative impact of MTHFR mutations.

Implications of MTHFR Gene Regulation:

• Improved Methylation: If you can upregulate gene expression or supplement effectively, you may improve methylation, which is critical for DNA repair, detoxification, neurotransmitter production, and inflammation regulation.

• Reduced Homocysteine: Supporting the methylation cycle can help lower homocysteine, reducing the risk of heart disease, stroke, and other cardiovascular issues.

• Mental Health: Since MTHFR mutations have been linked to mood disorders (e.g., depression, anxiety), improving methylation could enhance mood and cognitive function.

• Detoxification: Effective methylation supports detox pathways, helping to remove heavy metals and other toxins.

However, while the gene cannot be "switched off" in a traditional sense, gene expression and related health impacts can be modulated through these methods. The key is managing nutrition, environment, and lifestyle to mitigate the risks associated with an MTHFR mutation.

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What role does choline play in this story?

Me: Where does choline fit into this methylation cycle?

[I pursued this line of enquiry because choline is hugely significant in both FMS which I have managed with phosphatidylcholine for 30 odd years, and to issues relating to both covid and the spike protein, and to the toxicity issues identified by Dr Bryan Ardis and the nicotine acetylcholine receptors or nAChRs.]

Dr Bryan Ardis (& nicotine) vs the rest of the world

ChatGPT: Choline plays an important role in the methylation cycle as an alternative methyl donor. It participates in the process of converting homocysteine into methionine through a pathway parallel to that of folate and vitamin B12, and is crucial for maintaining overall methylation balance in the body.

Here’s a simplified explanation of how choline fits into the methylation cycle:

1. Choline and Methionine Production

• Choline is a precursor to betaine (trimethylglycine), which acts as a methyl donor. Choline is converted into betaine in the liver.

• Betaine can donate a methyl group to convert homocysteine into methionine, through a reaction catalyzed by the enzyme betaine-homocysteine methyltransferase (BHMT).

• This process is an alternative pathway to the more common methylation route involving 5-MTHF (from folate) and vitamin B12. If there’s a problem in the folate pathway, like an MTHFR mutation, choline/betaine can provide an alternative methyl group to continue the conversion of homocysteine to methionine.

2. Importance of Methionine and SAMe (S-adenosylmethionine)

• Once homocysteine is converted to methionine, methionine can be converted to SAMe. SAMe is the body’s main methyl donor for many methylation reactions, which are essential for:

  • DNA and RNA methylation (important for gene expression and repair)

  • Neurotransmitter production (e.g., serotonin, dopamine)

  • Detoxification processes (methylation of heavy metals, estrogens, etc.)

  • Lipid metabolism (involving phosphatidylcholine, a derivative of choline)

3. Choline’s Role in Supporting MTHFR Mutations

• In individuals with MTHFR mutations, the folate cycle (which produces 5-MTHF) is less efficient at converting homocysteine to methionine.

• Choline, through its conversion to betaine, helps compensate for this shortfall by providing an alternative way to reduce homocysteine levels and support the creation of methionine.

• If there is choline deficiency, homocysteine levels may remain high, even if there’s adequate folate, B12, and B6, because the body lacks an alternative methylation pathway.

4. Choline’s Additional Functions

• Choline is also important for the synthesis of phosphatidylcholine, a major component of cell membranes and vital for liver function (in the production of very-low-density lipoproteins or VLDLs).

• It is necessary for the production of acetylcholine, a neurotransmitter important for memory and muscle control.

Summary of Choline’s Role in Methylation:

• Choline is an essential nutrient that supports methylation by providing betaine, which can convert homocysteine to methionine via an alternative pathway.

• It’s particularly important in cases where the folate cycle is compromised (e.g., in MTHFR mutations).

• Choline helps maintain proper methylation balance, reduces homocysteine levels, and supports the production of critical compounds like SAMe and phosphatidylcholine.

Ensuring adequate choline intake, along with folate, B12, and B6, is vital for a healthy methylation cycle and can mitigate the effects of MTHFR mutations. Dietary sources of choline include eggs, liver, meat, fish, and cruciferous vegetables.

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The range of diseases that can result from the MTHFR gene variation

Me: Are you able to list different families of ailments that could originate in MTHFR gene problems?

ChatGPT: Yes, MTHFR gene mutations can be linked to a variety of ailments, and their expression can be influenced or compounded by other genetic limitations. Below is a breakdown of different families of ailments that may originate from MTHFR mutations.

[A lot of detail omitted including other genes implicated.]

Summary of MTHFR-Related Ailments and Branching Conditions:

• Cardiovascular Disease → Blood Clots, Stroke

• Neuropsychiatric Disorders → Depression, Anxiety, Schizophrenia

• Developmental Issues → Autism, Neural Tube Defects, Cognitive Decline

• Autoimmune Disorders → Lupus, Rheumatoid Arthritis, MS

• Pregnancy Complications → Miscarriage, Pre-eclampsia, Infertility

• Cancers → Colorectal, Breast, Leukemia

• Detoxification Issues → Fatty Liver, Toxicity

These conditions can branch further depending on other genetic factors that exacerbate or modify the expression of MTHFR-related issues. Supporting methylation with proper nutrition (folate, B12, choline) and addressing compounding genetic limitations are crucial for mitigating the risks associated with MTHFR mutations.

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Why are doctors not genetic testing?

The question we have to ask ourselves is why every doctor and every other kind of health practitioner we see is NOT currently bothering to work with genetic tests to see if we are impacted by variations on, at the very least, the MTHFR genes, and potentially many others.

The tests are cheap and non-invasive and can be analysed by computer. I was able to use a genetic test done years ago when I was researching my Ancestry on Ancestry.com, to establish my MTHFR gene status. There are also branches of medicine that specialise in understanding the impact of genes on health - and they are not all doom and gloom. We can manage our health issues if we know what they really are!

Surely this should be the starting point for each and every medical investigation and intervention, EVER.

Am I wrong?

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Who wants to talk about any of this?

I would love to form a brainstorming group where we throw around the options for healing and allow ourselves to consider novel solutions. Please feel free to message me on chat if you would like to be part of an open-minded brainstorming investigation of just what simple and cheap ways there are to protect ourselves from all this toxicity and repair the damage it has caused.

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Can you help?

I intend to keep writing of my journey through this rather strange time in my life, and for this planet. As soon as I know, I will share with you, what does and does not work to exorcise this bio-weapon from our bodies and take back some level of control of our lives.

If you think my writings are worthwhile, you can help me get more subscriptions and donations by sharing this article on other social media platforms, and by re-stacking this article in Substack Notes.

Or make a PayPal donation here to help with ongoing medical costs. Every little bit helps. The last donations, thank you, paid for a red light to help me find restful sleep and experimental nitric oxide gummies to see if increasing nitric oxide levels improves my overall health (it does). I now have a non-intrusive blood glucose monitor on the way.