You mthfr!

If you looked at the title and thought, ‘Wow! A post about MethyleneTetraHydroFolate Reductase’ then you’d be right! If you looked at the title and thought about something or someone else…actually what else could you have been thinking?  We’ll get to the title later.

Have you heard of String Theory? It is a very VERY complicated theory that explains the parts of the universe that are too small to be explained by Einsteins theories of relativity. And when I say small, I mean we need a whole new word for small. The best example i’ve heard, is that if an atom where the size of the solar system, a string would be the size of a TREE! That is mind boggling to say the least. String Theory and particle physics have been controversial for a long time, in no small part because there wasn’t one model of the theory for anyone to agree on! There were in fact 5 different theories to explain strings and the evolution of the universe. It was said at the time, that ‘If one of those theories explains the universe, then which universe’s do the other four explain’. It was not just food for thought but a whole damn smorgasbord! Then one day, a very brilliant man with a soft delicate voice, an unassuming perona, and an enormous brain called Ed Whitten, announces that he had unified the five different string theories into one that he called ‘M Theory’. As a basic example, if I asked you to hold up your pointer finger and describe it, what would you say? Well, for a start, there’s a fingernail at the top that is hard, it has a white bit a the top, a pink part in the middle and a half moon in a lighter shade of pink at the bottom. There a two convex knuckles which are a bit wrinkly (and becoming more wrinkly every day), there is a vein popping out and a mosquito bite and when I bend it, it points away from me. Now, turn that same finger 180 degrees, and describe it. Well, it’s the same colour, but it’s much smoother. At the top there are strange markings that are unique to each finger…on the entire planet! There are horizontal lines that are a darker colour and when it bends, it points towards me. One thing, two different descriptions. Basically, what the incredible Ed did, was to look at the existing theories from a different angle. In doing that, he saw that they were all describing our universe, just at slight different angles. Pretty impressive stuff.

It has been said before, and will be said again,  the human body is truly a wonder.    The simplicity of the outside of our bodies belies the intricate dance of systems, organs, networks, hormones, amino acids and neurotransmitters that is going on inside.  And thats just to name a few.  There are armies of workers going to and fro, cleaning house, transmitting information and letting in nutrients, breaking them down to smaller pieces and sending them where they need to go and others that are  takin’ out the trash. There are trillions of bacteria living symbiotically in our mouths, and digestive tract producing essential vitamins and compounds that help make up our immune systems, as well as killing off bad bacteria so that we stay strong and healthy.  Our amazing bodies are ALWAYS trying to keep themselves in tip top shape despite how it sometimes seems.  When we are overwhelmed with symptoms and illness it’s easy to think your body has turned on you, when it is in fact trying to do the opposite.  Your body does not just employ single organs to do specific jobs. They are intricately connected in ways you can’t even imagine!  One such example is Methylation.    It is on an incredible scale of complexity and is happening  as you’re sitting reading this, but we’ll get into that later.  When you’re doing biomedical interventions for Autism, there are a few standard issues and treatments that almost everyone agrees on.  Digestive issues, allergies,  a high toxic load of mercury and other metals, and an out of whack zinc/copper ratio  are the most common. As it turns out that the vast majority of Autistic individuals suffer from all of these conditions and many treatments are based on or around correcting digestion, removing allergens like gluten and casein, removing toxic metals and balancing zinc and copper.  Probiotics are a standard treatment as is fish oil and omega 3 supplementation.  Then there are the countless other issues that affect kids on the spectrum. In fact, the symptoms in and of themselves are a spectrum.  Each child is so different, and what may affect some won’t affect others.  It is a very complex, and multilayered condition, as it is almost impossible to know what issues they would have been dealing with if they didn’t have Autism.  But what do you do, and where do you start when your child has a seemingly impossible and seemingly unrelated set of symptoms as long as your arm?????  I’ll give you a quick run down of my little man’s rap sheet.   Eczema (from one month old), digestive problems (from day one), multiple food and chemical sensitivities, high histamine, low zinc/high copper, low magnesium/high calcium, high cortisol, intermitant  fevers, aggression and anxiety. You keep on looking.  You  research each symptom and deal with them one by one and if you’re like me you do that for many years.

Like those tireless String Theorists looking for solutions to endless questions and problems, carers of Autistic children, or in fact any child that has any type of issue, sometimes you just feel that you reach a dead end. Sometimes the problems seem as though they’ve gotten so big and so exhaustive, that no solution is actually possible!  But of course in this magical universe, there is always another avenue to explore.  They can dawn on you slowly as you acquire information piece by piece, or they can pop up out of nowhere when you least expect it. And on very rare occasions, they happen simultaneously. MTHFR Avenue popped up on my inner GPS as I was doing yet more research on Histamine. I was looking for what started the high histamine sequence of events and it happened. I had a moment when all of my theories came together. That moment when right before my eyes, on the very computer screen i’m typing this onto, revealed  the answer to most of my questions. I had that moment when your whole body comes alive and boundless energy surges through you as this information fills every gap and satiates the previously insatiable hunger for answers. Like ‘Neo’ from ‘The Matrix’, I had an ‘I know Kung Fu’ moment!  My head was full of this new information and it all made perfect sense, it was the missing link in this broken chain of symptoms. BBBAAAAMMMMM! I was Ed Whitten!

So, what is this MTHFR? Well, in the words of the little guy from the Curiosity Show, ‘I’m glad you asked’.  In your body at this very moment, you  are undergoing an incredible process called ‘Methylation’.  Methylation is almost as complicated as String Theory to my untrained brain, and I am slowly trying to wrap my head around it.  I’ll do what I can to explain it.

Gene’s in our body act like switches, turning processes on and off. The MTHFR gene is responsible for converting Folate (a B vitamin, also known as B9)  into methylfolate. The conversion of folate to what is known as 5-methylTHF, is the beginning of the Methylation cycle. The cycle is like cogs turning, and each cog relies on the next  for the smooth and proper functioning of itself and each function from there on. The central cog uses the converted folate, and  methylcobalamin  (B12) to produce SAMe, and reduce Homocysteine. It brings in Methionine, B6  and Cysteine to produce the master antioxidant, Glutathione. This process also sets in motion, on the other side of the cog, yet another cycle called the BH4 cycle, which is responsible for the neurotransmitters Seratonin and Dopamine, by the conversion of the amino acids Tryptophan and Tyrosine. PHEW!   When I say I have simplified this process i’m not kidding.  Google ‘Methylation Cycle’ images and prepare to be blown away!  It is beyond description, and I have not done it justice by any stretch of the imagination.   But the point is not the cycle itself, but that one seemingly small thing can trigger such a cascade of symptoms and diseases.

The functions of the methylation cycle include :

Detoxification
Immune function
Maintaining DNA
Energy production
Mood balancing
Controlling inflammation

To put that into perspective, here’s a list of what happens when it’s not working properly

Cardiovascular Disease
Cancer
Diabetes
Adult neurological conditions
Autism and other spectrum disorders
Chronic Fatigue Syndrome
Alzheimer’s disease
Miscarriages, fertility, and problems in pregnancy
Allergies, immune system, and digestive problems
Mood and psychiatric disorders
Aging

It seems that a mutated MTHFR gene is becoming more and more common, as it is passed down from generation to generation. Down’s Syndrome and other genetic diseases are also implicated.

So, what the hell do we do?  Thankfully, there is a simple  saliva test, which we shall be undertaking shortly, that can test for mutations in the MTHFR gene.  The gene can have up to forty mutations and the treatment depends on where the mutation occurs. I don’t know yet if every mutation has a treatment, but believe me, i’m working on finding out.  Some treatments however, can be as simple as taking the already converted form of folate called folinic Acid.  I have already seen incredible improvements in my own Mum after suggesting she try this form.  She takes a drug for her Arthritis called Methotrexate, which actually depletes the body of folate, which then causes Methotrexate toxicity.  Her doctor had prescribed folate for her to take, but every week, for 3 days after taking the drug, she was incredibly sick even with the folate.  After discovering all of this, I gave her the folinic acid, and her sickness has vanished! It has been quite a remarkable difference, and most certainly points the finger at the likelihood of her having a mutation.

Although it may seem a depressingly long list of issues, I am so excited by the possibilities.  It also unfortunately raises quite a few questions which I will address in the next post, regarding folate in our food supply.  But for now, let’s rejoice in the wonders of the human body, the incredible discoveries of mankind and the little universes that are our kids.

Kitty. xx