MTHFR is an abbreviation for methylenetetrahydrofolate reductase -- which I couldn't even attempt to pronounce. 99% of the people just skip right to using the acronym, because holy moly there are a lot of sylables in that name. My biggest issue is that every time I see the acronym my mind fills in the blanks with curse words... which is actually apropos as if you have this? It's something you probably feel like swearing about.
What it is, it's a gene. We all have that gene. But some of us, have defects in that gene.
99% of the doctors practicing western medicine and following studies based on about five years ago, will tell you that there is very little to worry about. It comes with a slightly higher risk of cancer (which as long as you are doing normal, healthy prevention - shouldn't be an issue) and a slightly higher risk of blood clotting (which, until you have a clot is usually not something most people worry about).
1% (well, that's probably an over-estimation)... probably .005% of the Doctors though are figuring out that it's so much more than that. The issue is that not everyone with MTHFR defects gets ill.
MTHFR defects are proven to impact the methylation process. Standing alone, there's probably not much impact to a single genetic issue. But if you combine other defects in the other genes that impact the methylation process OR if you combine these defects with either a poor diet, and/or high exposures to toxins and it's a recipe for trouble.
I went to http://www.23andme.com and I ordered the $99 DNA test. I ran those results through Genetic Genie. And through that, I found I have 13 genetic defects within the Methylation cycle, five of which are homozygous. The rough rule of thumb that these specialists are finding is that if you have a couple of defects, you'll probably get sick in your 80's (and let's face it, if you get sick in your 80's who isn't going to blame it on 'getting old'). If you have five to ten of them, you'll probably get sick in your 60's (that's when my mother got ill). If you have more, you'll probably get sick in your 40's (that's what's happened to me). But, you might experience symptoms your whole life. Being fatigued (but in today's world, who doesn't get tired), dairy intolerance and/or gluten intolerance (which, let's face it almost seems like a trend it's so common these days). Looking back at my life, I remember my mother insisting I get tested for diabetes when I was 18 because I was always so tired. I had chronic tendonitis in my wrists and forearms starting in my mid-20's.... dental issues my whole life... all with possible links to methylation issues.
The methylation process has two primary jobs. I'm going to speak to each one individually.
It is responsible for processing and converting B vitamins into a form that the body can use. Sadly, what this means is that most fortified foods (almost anything containing flour in the US, as well as lots of cereal and lots of juices, etc.)... is almost always fortified with Folic Acid, B12 (in cyanocobalamin form) and B6 vitamins. All of which can be virtually toxic to someone whose methylation process isn't working correctly. I have been told twice that I've gotten toxic by taking a single, over the counter pill of B6 daily. I've also been told a dozen times by a dozen different doctors that it's not possible to get toxic on a single, over the counter pill of B6. Guess what. If your body can't break it down into the form it can use? It builds up in the blood and becomes toxic. I've also been told that a) you can't get too much B12 (cyanocobolomin) and that b) you can't get toxic on it. But, my blood tests show off-the-charts high levels of B12. Maybe MOST people dont' get toxic on it. Maybe MOST people find that their body can eliminate it in urine. But NOT EVERYONE. And ? MTHFR defects account for 60% of the population. It's COMMON. Now, having one genetic defect might not make a difference. Having 13 HAS MADE A DIFFERENCE TO ME.
Generally speaking, if you don't get cancer or blood clots - but have this and are ill. The doctors won't look for it, nor treat it. Because they just don't know enough about it. BUT I wish they would look at their test results and realize that if you have all the symptoms of B vitamin deficiency (which in it's worst case, is lethal) AND you're B vitamins are sky high on all the test results that it's not a case of hypochondria. There's probably a reason behind both - and that reason is highly likely related to defects in the Methylation cycle.
The second job that the methylation process has is to help break down and eliminate toxins. If it's impaired, then suddenly the 'safe levels of exposure' probably aren't as safe. A lot of people with chemical sensitivity, high mercury levels, etc. THAT WERE NOT EXPOSED TO HIGH LEVELs are probably also people who have MTHFR. Because the body just can't break down the chemicals into a form that can be easily eliminated as well as it should. Again, the number of genes and the amount of exposure would account for why not everyone with MTHFR would automatically have issues at a younger age. But with time, and toxic build up over the years, eventually you would hit a limit. I truly believe this part of the impairment in the process is related to why MTHFR people will have higher rates of cancer.
So - with B vitamins not getting utilized as well, and toxins building up - it's a pretty easy link to think that a lot of people with undiagnosed, unexplained chronic health issues AND MTHFR defects might get better if they help support the MTHFR cycle. And that's what the specialists who have been working on this over the last five years have found.
First step - find out if you have any MTHFR or other Methylation Gene defects. It's a $99 test. Seriously, go find out.
Second step - find a specialist - this is the hardest part. There are maybe two dozen who 'get it'.
Third step - follow the recommended protocols. It usually starts with taking bio-available forms of B vitamins that skip the methylation process and give you the vitamins in a form you can use. It usually includes lifestyle changes and diet changes to eliminate sneaky fortified foods and reduce toxin exposures. With no other health issues - the specialists are finding patients are RAPIDLY seeing DRAMATICALLY improvements within mere days or weeks of treatment. NOTE: vast majority of treatments don't include prescriptions. Over the counter supplements and making better, educated, healthy choices? It's worth it! It really is.