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Who Should Care About MTHFR Mutation?

On the internets, it seems like everyone cares about MTHFR right now, but honestly, it isn’t necessarily important for everyone. Not even for everyone with a known mutation.

Just having a polymorphism is not a cause for panic. Having an MTHFR mutation, even one that is considered significant will never have any symptoms, signs, or health risks from the polymorphism. Just having the gene doesn’t mean anything at all in terms of supplements you should take, things you should do, or really anything else. In fact, over supplementing can be as harmful to your health as under supplementing.

Who should care about MTHFR mutations?
This girl thinks you should care about MTHFR mutations.

Two Main Factors Make MTHFR Matter

  1. Your circumstances
  2. Your symptoms

Let’s review what MTHFR might do, and then we’ll talk more about circumstances and symptoms.

Possible Health Consequences of the MTHFR mutations

MTHFR mutations have been implicated in at least one research study in:

  • Midline Abnormalities: neural tube defects, anencephaly, spina bifida, cleft palate, cleft lip, and facial asymmetries.
  • Cancer: including breast, lung, brain, stomach, head and neck, 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.
  • Fertility issues: including miscarriages or multiple pregnancy loss, low sperm count, history of children with birth defects.
  • Neurological issues: including migraines, autism, 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.
  • Abnormal Reactions to Medications and Therapies – including methotrexate, FOLFOX (a combination chemotherapeutic agent), SSRI medications for depression, some vitamins including folic acid, methyl-B12, betaine, and others.

When Should You Be Concerned?

This is simple. These are the circumstances that matter:

  • Fertility and Pregnancy – if you suspect you or your partner might have an MTHFR issue and you’re considering having a baby, it matters to know so you can get your health right before you build a baby.
  • Treatments for Depression and Anxiety aren’t Working – this is a strong indicator that there is something underlying the issue that isn’t being addressed, and none of the medications out there manage MTHFR issues.
  • You Have a Strong Family History of Early Cardiac Death – it might not be related to MTHFR, but if it is then knowing your MTHFR status gives you something you can work on, instead of waiting for the ax to fall.
  • You Have Three Known Bad Copies of MTHFR – this is three compromised copies of significant MTHFR SNPs (C677T and A1298C) out of four.

Who Should Care about MTHFR Polymorphisms?

These are the symptoms that matter. If you or your genetically related family members have more than three of the following, then your life might get better by addressing your methylation, whether you know about your MTHFR or not.

  • Anxiety
  • Overachieving tendencies
  • Perfectionism
  • Obsessive thoughts
  • Insomnia
  • Cleft lip or cleft palate
  • Spina bifida
  • Abnormal or unexplained clotting
  • Bad reaction to birth control pills
  • Alcohol intolerance
  • Schizophrenia
  • Bipolar disorder
  • Repeat miscarriages
  • Unexplained low sperm count
  • Alzheimer’s dementia
  • Addictions
  • High homocysteine levels
  • Food or chemical sensitivities
  • Intense competitive drive
  • Serum folic acid tests is abnormally high or abnormally low
  • “New car smell” gives you a headache or other symptoms.
  • Taking B vitamins sometimes makes you feel depressed

Who Should Not Be Worried About MTHFR Polymorphisms?

  1. People who know they have no bad copies.
  2. People who know they have one bad copy but have no related symptoms or family histories.
  3. People who don’t know their genetic profile who also don’t have related symptoms or family histories.

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