I have an MTHFR mutation! Stay tuned for what that really means.

Last fall, my daughter and I decided to take advantage of a 2-for-1 special offer from 23 and Me, the genetic testing company. We sent in saliva samples to have our ancestry analyzed.

No surprise: I am 100% European. I’m 66% British & Irish, 22% French & German, 10% broadly Northwestern European, and 2% Scandinavian (which was a surprise). Hers was similar, but she was also surprised — she has no Native American blood on her dad’s side, which she’d been told she has.

23 and Me is working on providing more ancestry detail, separating British and Irish (but not Scottish, which I believe I have plenty of), French and German, and Scandinavian into separate countries of origin. Soon we’ll get new reports with this new information.

At that point, we both decided to have our health data analyzed. They’ve already done the analysis, after all. You pay for the health data, and they send you the results immediately.

Screen Shot 2018-03-20 at 8.20.15 PM23 and Me was able to tell me that I have a slightly increased risk for age-related macular degeneration and for late onset Alzheimer’s. They are careful to say that genes aren’t destiny and that lifestyle factors can play a significant role. I was relieved to find out that I was genetically not at risk for Parkinson’s disease, which my father had.

23 and Me shares a lot of interesting but trivial genetic information. My genes say I can smell asparagus, taste bitter, have detached earlobes, had little baby hair, prefer salty over sweet, and don’t have a unibrow. They also say my ring finger is likely to be longer (wrong) and that I have brown or hazel eyes (they’re green).

I’m less likely to be a deep sleeper and likelier to move in my sleep. I have the muscle composition common in elite athletes. I tolerate lactose and am predisposed to weigh less than average.

Here’s the really big deal: In 2013, the FDA shut 23 and Me’s health information down, saying it wasn’t clear or complete enough for consumers. 23 and Me, still in business sharing ancestry data, had its scientists work with focus groups of consumers to come up with reports that 90% of people understood accurately. The company won back the right from the FDA to reveal risk for Alzheimer’s and Parkinson’s and a few other diseases. But there’s a lot of health information 23 and Me can’t legally reveal — yet.

Here’s the workaround: You can download your raw genetic data from 23 and Me and have it analyzed by other online companies. I don’t know why the FDA allows this, but it’s a good workaround for learning more about your health, for now.

One thing I had wondered about my genes was whether I have an MTHFR mutation. (I know it sounds like a bad word, but it stands for methylenetetrahydrofolate reductase, an enzyme involved in nutrient metabolism. Learn more here.)

I began hearing about this a few years ago. These mutations/variants/polymorphisms decrease methylation, resulting in a lack of nutrients like B6, B12, and folate, and potential problems stemming from that.

I’ve long suspected issues with my biochemistry that have contributed to food sensitivities, IBS, occasional acne long after adolescence, and rosacea.

Downloading my raw 23 and Me data and plugging it into Genetic Genie (donating $10 for the service), I learned that I have a homozygous mutation (inherited from both parents) in one of the two MTHFR genes (677).

The big question is what does having these mutations mean? There’s so much information available online that it’s overwhelming. Apparently 30-60% of people in the U.S. have an MTHFR mutation, so it isn’t rare. The website states that methylation can be altered with supplements and diet.

When I see a conclusion repeated across several reputable (as far as I can tell) websites, I’m going with it. The conclusion in this case is that without actually testing the levels of the nutrients supposedly affected, no one really knows how a mutation affects them. Some people have MTHFR mutations with no ill effects. Others may have serious health issues, that if known and compensated for, may decrease, increasing quality of life and longevity.

I switched to an integrative MD who works with this type of issue. I had my first appointment today, forwarded him my DNA data, and have an appointment tomorrow to have blood drawn for testing micronutrient availability in my cells. SpectraCell Laboratories will get my results to my doctor in a few weeks, and I’ll report back then.

Meanwhile, do you have an MTHFR story to share?



1 thought on “I have an MTHFR mutation! Stay tuned for what that really means.

  1. Maryann, you may or may not be all those different European bloodlines. Who really knows! I can say one thing for sure though. You are definitely 100% cool!


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