MTHFR…WTF??


I had a very interesting consult yesterday with a new doc, as my former doc is leaving the Hirsch Clinic for Integrative Medicine. This was a “transition” appointment that I expected to be a non-event…was I ever wrong!

My new doc (actually, she’s a PA) is Anne Rhody. Anne has been caring for my mother since she moved up here from California end of March, so it was natural to switch my care to Anne.

She took one look at my copious lab results from the past several months and said they screamed genetic order, so she is having me do the 23 and Me genomic test. What she thinks I have is called a “MTHFR mutation.” Perhaps it’s the result of my warped brain, but when I saw that in print, all I could think of was, I have a Motherfucker Mutation. WTF??

Normally I’m not this potty-mouthed, but without an acronym to lighten this exceedingly complicated biochemical genetic problem, I’m destined to never understand it. And when the shoe fits…

The MTHFR mutation is actually a whole group of mutations involving methylation (a very important chemical process in the body), which can lead to a long list of diseases and disorders. It’s only been on the radar for about 10 years, as a result of the Human Genome Project. You can read more about MTHFR here. There’s actually quite a bit written about it online, but you have to be a dang PhD biochemist to understand it. Suffice it to say that if you have this mutation (or mutations), you can’t make or process hormones, enzymes and their cofactors correctly. It’s a lifelong problem that presents in a variety of ways, based on environmental triggers. It all relates to gene expression. When a mutant gene gets “flipped on,” you can have a hell of a time flipping it off… and would I ever love to flip it off. In more than one way.

I have extremely low neurotransmitter levels across the board, crazy hormone levels (probably related to my pituitary adenoma), and I’m low in B vitamins no matter how great my diet or supplements. I’m also chronically low in magnesium and manganese. My metabolic hormones are a mess as well, regardless of diet and exercise. If I do have this Motherfucker Mutation, it would indeed explain a lot, from the fibromyalgia and migraines to the pituitary tumor.

In a nutshell, the good news is that genetic methylation mutations can be treated with very specific vitamin supplements in highly specific forms (prescription vitamins). Anne said she has successfully treated a number of patients this way over the years.

This is very good news for me, as no one has ever gotten to the bottom of what’s wrong with my body and seems to affect nearly everything. It’s been two steps forward and one-and-a-half steps back for the past 40 years, with no Unifying Theory of Everything. Could the unifying theory actually be a Motherfucker Mutation?

For you health and science geeks out there, at the top is one of the pictorial representations of the cycles affected by the MTHFR mutation. Clear as mud right?

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