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Health Problems Linked to MTHFR mutations

Mutation Sounds So Serious and Certain – Can I Change This?

I use the term “mutations” or “mutant” mostly because I like them. MUTANT sounds so very X-men and god knows I’m a sci-fi geek. Technically, the correct term is “polymorphisms,” which is less dramatic and doesn’t imply eyeball laser beams. Polymorphisms are simply small differences – one letter substitutions – in a gene. SNP (Single Nucleotide Polymorphisms, pronounced “snip”) are part of the wonderful and astounding variability of human genetics.

The health problems associated with MTHFR mutations can be divided into two categories:
SNPs or single nucleotide polymorphisms are essentially a letter substitution in your genetic story. Like the difference between “Tom is tall” and “Tom is fall”. This is why there are health problems associated with MTHFR mutations.

According to the National Institute of Health, SNPs occur in our DNA almost once per 1,000 nucleotides. Since we have over 3 billion nucleotides (or base pairs) in the human genome, this means the average person has somewhere in the neighborhood of 4-5 million SNPs. That’s a LOT of “mutations.”

The vast majority of SNPs don’t have any impact at all, but as we discussed here, some do. I am, of course, referring to the magic chair that is the MTHFR enzyme.

Health Problems Are Linked to some MTHFR SNPs Because They Change the “Magic Chair.”

If you have no idea what I’m talking about, check out last week’s post here. The basic idea is that the MTHFR polymorphisms C677T and A1298C are actually consequential because they change the shape, and therefore the function, of the MTHFR enzyme in one of the most important chemical pathways in our body, the methylation pathway.

MTHFR mutations that matter are A1298C and C677T
MTHFR mutations that matter are A1298C and C677T

Quick and Dirty List of Health Problems Linked to MTHFR

These health issues have been linked to MTHFR in at least one high-quality study (a great database of relevant studies is here for C677T and here for A1298C):

  • Midline Abnormalities: neural tube defects, anencephaly, spina bifida, cleft palate, cleft lip, tongue-tie, facial asymmetries.
  • Cancer: including breast, lung, brain, stomach, head and neck, thyroid, bladder, leukemia, and kidney.
  • Cardiac disease: including thrombosis (increased tendency to clot), deep vein thrombosis, high homocysteine levels, pre-eclampsia (high blood pressure in and around pregnancy), vascular dementia, glaucoma, heart murmurs, stroke, pulmonary embolism.
  • Fertility issues: including miscarriages or multiple pregnancy loss, placental abruption, low sperm count, history of children with birth defects.
  • Neurological issues: including migraines, autism, ADD/ADHD, Parkinson’s disease, Alzheimer’s dementia.
  • Mood and Psychological issues: including anxiety, depression, obsessive-compulsive traits or tendencies, bipolar disorder, and schizophrenia. Also, reduced reactions to certain medications like SSRIs for depression, and increased tendency toward addictions.
  • Miscellaneous Conditions: including chronic fatigue, fibromyalgia, and numerous autoimmune disorders.

Symptoms That Could Be Linked to MTHFR

Outside of the slightly scary list of diagnosable illnesses and health problems linked to MTHFR, there are also a number of symptoms that are highly associated, but don’t really warrant a diagnosis (at least not until they reach an unmanageable level). These include:

  • Brain fog
  • Irritability
  • Obsessiveness
  • Workaholism
  • Sleep Issues
  • PMS
  • Difficult menopause
  • Food sensitivities
  • Chemical sensitivities
  • High levels of seasonal allergies
  • Attention issues
  • Anger and aggression
  • Gallbladder sludge and stones
  • Heart racing
  • Depression
  • Edginess
  • Headaches or migraines
  • Moodiness
  • Joint and muscle aches
  • Itching skin
  • Obesity or easy weight gain
  • Carb and sugar cravings
  • Sweating
  • Feeling “not right”
  • Addictive tendencies

Does Having MTHFR Mutations Mean I Have These Issues?

Nope. Just like having these issues doesn’t mean you have an MTHFR mutation.

So… What Does It Mean?

It means if you have any of these issues (which, honestly, most people do have at least one), then managing your MTHFR and methylation cycle in a proactive way can help you feel better, reduce your symptoms, reduce sensitivities, and hopefully prevent MTHFR-related disease in the long-term.

What IS This Witchcraft?

It’s called “epigenetics” and it is a field that has emerged in the last couple of decades as we learned how many genes really are actionable. Epigenetics is the study of the way diet, lifestyle, nutritional status, drug use, chemical exposure, self-care, and external factors influence the expression of your genes.

This video explains epigenenetics and also gives a bonus introduction to why the methylation pathway is so important to gene expression (do you see all those methyl groups?!?)

Help! I’m Drowning in MTHFR Doom!!

It can feel a little bit overwhelming – especially if you’re like me and can listen to the giant list of symptoms and find more than five that match up with issues you have in your own life. The good news is that YOU CAN TAKE CONTROL. You hav e the power, thanks to epigenetics, to change your state of health and the severity of these symptoms. Also, here’s some great news:

MTHFR is an opportunity. Take it.
MTHFR is an opportunity. Take it.

MTHFR Superpower – Speed and Strength!

It’s no eyeball laser beams, but it’s a start. It has been suggested that DNA undermethylation in MTHFR folks induces muscle growth. A recent study of Russian and Polish athletes found an athletic advantage in sprint-strength type activities for the A1298C polymorphs. Mutants, Unite!

Next week we’ll talk about MTHFR testing options, what the results actually mean. and who should test? Subscribe, so you don’t miss any episodes and pass it on to your grumpy, obsessive, workaholic friends because maybe they’re mutants too…

Enter Your Email Below or To The Side For A Free Downloadable .pdf of this and MUCH more MTHFR info!

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MTHFR is a common genetic mutation that can contribute to anxiety, depression, fatigue, chronic pain, infertility, and more serious conditions like breast implant illness, heart attack, stroke, chronic fatigue syndrome, and some types of cancer. If you know or suspect you have an MTHFR variant, schedule a free 15-minute meet-and-greet appointment with MTHFR expert Dr. Amy today.

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Amy Neuzil
Amy Neuzil

Dr. Amy Neuzil, N.D. is a leading expert in MTHFR and epigenetics, and she is passionate about helping people achieve optimal health and wellness for their genetic picture. She has helped thousands of people overcome health challenges using a simple, step-by-step approach that starts with where they are today. Dr. Neuzil's unique approach to wellness has helped countless people improve their energy levels, lose weight, and feel better mentally and emotionally. If you're looking for a way to feel your best, Dr. Amy Neuzil can help. Contact her today to learn more about how she can help you achieve optimal health and wellness.

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11 Comments

  1. Great info! I’m researching anything relevant to Parkinsons and am happy to have found your site. Thanks

  2. Great info! I’m really trying to learn more about my mutation and gain control back over my life I feel like I’m drowning in anxiety and depression. I’m homo A1298c

    • Hi Megan,
      It can *totally* feel like drowning sometimes. I get that. Just take it in baby steps and small bites – the anxiety and depression can truly soften up and melt away. I’ve been there too. Just keep your hope and your faith and take tiny steps forward!

  3. Great info for the “start here”
    Page. I really need help cause now I’m pregnant and still not sure if I have this. I have many symptoms and signs.

  4. My (adult) son was recently diagnosed as having a MTHFR mutation. Several of these symptoms would check off boxes in the life’s and deaths of at least three generations of my husband’s family. Both of my children and husband have been diagnosed with several what could be symptoms of this. So the correlations are worth the time to learn more. Thank you for the podcast.

    • Hi Stacy,
      Thanks for being here! And isn’t it remarkable to finally find something that makes some sense out of all of the seemingly unrelated symptoms? I had my own “aha” moment when I first found my polymorphism. Like suddenly my health made a bit of sense. Let me know if you or your family members have questions!

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