Location of the MTHFR gene on the genome. (Photo Credit: NIH/NCBI)

Not long ago my sister had a miscarriage. It was upsetting in and of itself, because that kind of news is terrible; however, there was more. This was her fifth miscarriage.

She’d never told my mother or me about any of them. The only reason she told us about the most recent loss was because she’d already told us she was expecting. In retrospect, she didn’t tell us about any of her three kids until she was really quite far along in her pregnancies. And this is why: She kept losing her babies. With all this in mind, she’s had twice as many miscarriages as she’s had full terms.

How could this be? As it turns out, her doctor tested her for a particular mutation, and my sister came back positive for an inherited mutation in her A1298C MTHFR gene. I had to look it up, and what I found is concerning. As it turns out, according to Psychology Today, up to 40 percent of people have some variation of this mutation:

“By some estimates, up to 40% of the population may have an MTHFR mutation of some kind. The current data suggest that between 6 and 14% of Caucasians and about 2% of those of African descent probably have a more severe (two mutated alleles) version of the mutation. In Hispanics, this number may be as high as 21%. But even having one mutated allele is associated with increased risk of certain health problems. For example, having one mutated allele at either of two specific locations is associated with 20-40% reduced activity of the MTHFR enzyme (depending on where on the gene the mutation is found). Having two mutated alleles at the same location is associated with a 40-70% reduction in enzyme activity, again, with severity depending upon the location of the mutated alleles. Some people may have two mutated alleles — one at each of two different locations on the gene — and that also increases risk of a number of health issues.”

And what are those health issues caused by this MTHFR?

The potential problems are many. In addition to pregnant women who are at risk of recurrent miscarriage due to folic acid deficiency (re: my sister), there are also migraines with aura, bone diseases, some cancers, depression, schizophrenia, bipolar disorder, ADHD, autism, heart disease and strokes.

This mutation also affects drug interactions: “The presence of an MTHFR mutation can also alter one’s response to medications, including antidepressants and some chemotherapy drugs. Furthermore, it can increase the risk of having an adverse reaction to receiving nitrous oxide anesthesia (a common dental anesthetic). Therefore, individuals with an MTHFR mutation should speak with their physicians/dentists prior to undergoing any procedure that would require anesthesia.”

Frankly, I don’t understand why it took five miscarriages for someone to finally think of this with my sister. I’m trying not to be angry about it. Perhaps one of my readers in the medical field could explain to me why this isn’t gross ineptitude. If it’s known that upwards of potentially 40% of people have this mutation to one degree or another, how could it not be standard procedure to find out if pregnancy vitamins containing folic acid would be fatal or not for women’s babies? If the mother cannot process folate/folic acid through food/pills, then she should know what the alternatives might be to ensure her child isn’t starved of Vitamin B9 (and potentially B12 as well).

And what’s more, if these MTHFR mutations are relatively common, why isn’t there broader screening for it? I haven’t been screened yet; however, between my sister’s situations, my bipolar disorder, and my mother’s migraines, how can I not also have it? Why isn’t something like this made more clear to the public?

The article I’m citing does a good job of explaining why this mutation’s effects are so broad. In a nutshell, a particular enzyme does not function adequately in those with MTHFR mutations. This enzyme, when it works properly, converts folate/folic acid into a more usable form in the body (note: folate is natural Vitamin B9, folic acid is artificial). It turns folate/folic acid into L-Methylfolate. And that allows our bodies to convert one amino acid (homocysteine) into another amino acid (methionine). The body then uses methionine to build proteins and neurotransmitters.

These brain chemicals (serotonin, dopamine, norephinephrine, etc.) are the chemical messengers in the body that regulate a wide variety of functions. These functions include mood stability, cognition, appetite, blood pressure, etc. With that in mind, it becomes more obvious how this mutation can impact everything from mental health to heart disease and back to miscarriages and migraines.

But what can you do?

First, get screened. If you are positive for the mutation, check your vitamins. If they contain folic acid (a synthesized form of folate), swap it out for L-Methylfolate (re: “optimized folate”). Also, B12 absorption (critical for mental health) is also possibly compromised, so be sure to get that as “cyanocobalamin.” Avoid processed foods, which often include folic acid, which can disrupt your ability to absorb optimized folate. To get plenty of B9 and B12 in their natural forms, eat lots of the following whole foods (courtesy of Healthline.com, bit.ly/2CtEqOP):

Spinach, kale, brussels sprouts and other greens


Legumes (e.g. lentils, beans, peanuts, etc.)

Nuts and Seeds

Wheat Germ and Nutritional Yeasts

Animal Protein
Dairy products
(liver especially, but also meat)

Jack Kirven completed the MFA in Dance at UCLA, and earned certification as a personal trainer through NASM. His wellness philosophy is founded upon integrated lifestyles as opposed to isolated workouts. Visit him at jackkirven.com and INTEGRE8Twellness.com.