Copper, methylation and MTHFR (no, I’m not swearing)


High Copper

Copper is good for you… until it’s not.  Then it’s bad, very bad.  Low copper can be damaging but high copper, it seems is even worse.  Copper creeps in quietly and slowly, just enough to make you sick without knowing why.  The kinds of symptoms you’re likely to experience from high copper are carbohydrate cravings, insomnia, fatigue and, most importantly for me, anxiety.


It’s interesting that the body’s ability to retain copper is linked to the presence of oestrogen.  High oestrogen thus equals high copper, so women are already at risk.  What’s even more interesting is that about a month prior to the beginning of my whole illness debacle, I went on the contraceptive pill.  Prior to this, I’d been receiving Depot Ralovera injections, the contraceptive injection.  While I loved the simplicity of the injection, I suffered from adult acne and my GP at the time suggested a high oestrogen pill might do the trick to clear up my skin (plus, ongoing use of Depot Ralovera can apparently lead to reduced bone density- not something I want to dabble in!)


As an aside, the contraceptive pill did make my skin much clearer but when my pyrroluria doctor discovered I was taking it, the orders were to “cease and desist forthwith”.  Next week I go for my very exciting blood test to see how my oestrogen’s doing and if my copper levels have dropped.  I’ve never been one to get excited about blood tests (actually, more like one to shake, cry and vomit.  We all have our foibles, this one’s mine, ok?!) but I’m rather looking forward to seeing my results.



Ok, I’ll confess.  This part, I totally don’t understand!  Methylation is the donation or addition of a methyl group to a molecule.  A methyl group is a little bunch of atoms, clustered together, that has one carbon atom and three hydrogen atoms, it’s not a molecule on its own, but it forms a part of many of the important molecules in the human body.  Basically, the methylation cycle is one big neverending game of pass-the-parcel, the methyl groups go from molecule to molecule, fulfilling a multitude of physical functions including everything from detoxification to DNA maintenance.  A problem with methylation can cause autism, psychiatric disorders, Chronic Fatigue Syndrome, diabetes and even cancer[i].  In brief, it’s kind of a big deal.


If you undermethylate, you’re likely to be uptight, anxious and a perfectionist.  It’s akin to Obsessive Compulsive Disorder in some ways.  The doctor who diagnosed me knew what I was even before the testing.  “You’re an undermethylator”, she said, not batting an eyelid.  “Know how I know?  You’re a lawyer”.  Simple as that!  In her opinion, long term academic study requires not just intellect but also a special kind of madness and in her opinion, all doctors, lawyers, engineers and such are probably undermethylating to some extent.  Conversely, if you overmethylate, you’re likely to be an academic underachiever but talented musically or in some other creative field[ii].  Of course it’s not really as simple as that. There are lots of “signs and symptoms” but in the end, the only way to know is to get the test done.  I did and I’m an undermethylator.



Just when you thought it couldn’t get any more confusing, along comes MTHFR.  No, I’m not swearing in text talk, it’s yet another medical condition.  My doctor told me people who have methylation issues and pyrroluria quite often tend to have this genetic variation (it just so happens she was a geneticist before she became a medical doctor.  Handy, huh?) so off I went for more tests and yep, I gots it!


MTHFR is an acronym for (deep breath in…) Methylenetetrahydrofolate Reductase.  You can forget all about that now, but the important thing to know if that MTHFR itself is an enzyme and the MTHFR gene is required to start the process of making that enzyme.  As my lovely doctor would say, if the gene is defected, then it’s like your body has this great car but no keys with which to start it.


DNA is made up of molecules called nucleotides and each gene is a little group of these nucleotides that instructs the body to do a certain task.  Every now and then though, one of the molecules is wrong.  Other molecules can fit in there, but they don’t quite do the job.  It’s like sometimes in a jigsaw puzzle you can fit the wrong piece in but you know it doesn’t actually belong there because the picture looks all wrong.  If a gene is wrong, it’s called a mutation and if it’s only one nucleotide, it’s called a Single Nucleotide Polymorphism, or a SNP (often pronounced “snip” by medical types).


There are a few different nucleotides in the MTHFR gene, so people can have lots of different SNPs.  Plus, because DNA is made up of two strands, one from each parent, you can have the SNP heterozygously (on one strand only, leaving one normally functioning strand) or homozygously (on both strands, this can be much worse).


In a nutshell, I have heterozygous MTHFR at the 1298 SNP.  Being a gene and all, there’s no “cure”, but serendipitously the treatment is the same as that for undermethylation, so that’s one less pill for me to swallow, huzzah!

[i] Yasko, A., 2012, <>.

[ii] Pfeiffer, C., n.d., <>.


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