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. Hers was similar, but she was 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, such as separating British and Irish (but not Scottish, which I suspect 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, 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, 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 more likely to move more in my sleep. I have 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 to reveal risk for Alzheimer’s and Parkinson’s and a few other diseases. But there’s a lot more health information 23 and Me can’t 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.

One thing I had wondered about my genes was whether I have an MTHFR mutation. (Yes, it sounds like a curse word.) I began hearing about this a few years ago. These mutations can decrease methylation occurring in cells, resulting in a lack of nutrients like B6, B12, and folate and problems stemming from that.

Plugging my raw 23 and Me data into Genetic Genie (and donating $10), I learned that I do have a homozygous mutation (inherited from both parents) in one of the two MTHFR genes and a homozygous mutation in a related gene. I also have several heterozygous mutations. Genetic Genie only does methylation analysis of the MTHFR and related genes.

The big question is what does having these mutations mean? There’s so much information available online that it’s overwhelming. Apparently 40% 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.

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 knows how a mutation affects them. Some people have MTHFR mutations with no ill effects. Others have serious health issues.

I switched to an integrative MD who works with this type of issue (and other things, I’m sure). 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 3 weeks.

Meanwhile, do you have an MTHFR story to share?


One 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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