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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.

SNPs or single nucleotide polymorphisms are essentially a letter substitution in your genetic story. This is why there are health problems associated with MTHFR mutations.
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 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…

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2 Comments

  1. Patricia Patricia

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

    • My pleasure, Patricia! Thanks for being here.

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