Many of you may have seen this acronym, thinking it was standing for something a little more...rude should I say?
But what does it actually mean?
It stands for: Methylene-Tetrahydro-Folate-Reductase.
MTHFR is an enzyme that converts folate, into its most active form 5-MTHF.
This active form of folate acts like a key to unlock a particular cycle in the body called the Methylation cycle.
Without getting too sciencey, this methylation cycle does the following:
So what is an MTHFR gene mutation?
It's estimated that approximately 40% of the population have a genetic variation of the MTHFR gene; currently only 2 of the 34 variants are studied:
The mutations can be as follows:
MTHFR C677T Heterozygous = decrease in ability to convert folate by 40%
MTHFR C677T Homozygous = decrease in ability to convert folate by 70%
MTHFR A1298C Heterozygous = decrease in ability to convert folate by 20%
MTHFR A1298C Homozygous = decrease in ability to convert folate by 40%
MTHFR C677T & MTHFR A1298C heterozygous = compound heterozygous = decrease in ability to convert folate by 50%
So what are the symptoms?
Why it's especially important to test for women of reproductive age or thinking about conceiving.
Folate (also known as Vitamin B9) is an essential nutrient required for DNA replication, growth and the development of the fetus and the formation of the neural tube.
Deficiencies are associated with congenital abnormalities such as orofacial clefts, Anencephaly & Spina Bifida.
If we can't convert folate into a form utilized effectively by the body, then we're not providing enough of this essential nutrient for the growth and formation of our unborn baby. This is why it's important to seek help from a registered practitioner to get a good quality, practitioner only pre-natal supplement regimne.
I have written more on pre-conception care here.
Testing for these genetic variations involve a simple genetic swab test - one which I order almost every client, especially every pre-conception care client.
My own story.
I too have an MTHFR A1298C variation.
I picked up on this after years of recurrent acne, inability to tolerate alcohol, elevated liver enzymes on blood tests and low energy.
I had previously tried many different natural and allopathic route's to rid myself of these symptoms, until I thought "I wonder?!".
Sure enough the test came back positive, and it explained SO much in regards to my symptoms.
Although it's only a 20% decrease in conversion to active folate, it was obvious that it was still effecting me.
Since being on a protocol to allow my methylation cycle to work effectively, , I have an enormous amount of energy, and my adult acne is slowly fading away, and low and behold - my liver function is now perfect; although I still don't drink alcohol because I don't like the feeling so much.
Health certainly is not once size fits all, and you shouldn't be left questioning what your GP says, be pressured to be put on contraceptive medication to control your hormones or acne, or be ignored.
If any of this information sparks an interest in your own wellness journey, then please get in touch today.