What is MTHFR?
(other than a funny looking word that may, or may not, make you think of a "naughty" name when you fill in the blanks...yes, all you juveniles  :) he he...inside joke)

"MTHFR (methylenetetrahydrofolate reductase) is a common genetic variant (think variety) that causes a key enzyme in the body (the one used to break down Folic Acid) to function at a lower than normal rate (think of these enzymes as little Pac Man's--at least that's what I do).

There are over 50 known variants (variations) on the MTHFR gene, but 677 and 1298 (number refers to the location on the gene) are the most common and most researched.

Symptoms/Conditions associated with this particular gene defect/Folic Acid deficiency:
Depression, Anxiety, chronic pain, chronic fatigue, nerve pain, migraines, elevated homocysteine levels, Fibromyalgia, Irritable Bowel Syndrome, Alzheimers, Bipolar disorder, Schizophrenia, Parkinson’s, stroke, Heart Disease, multiple miscarriages, still births, as well as other congenital anomalies (birth defects), and Down’s Syndrome.  Studies are also linking it with Autism as well.  (Yeah...I know that's a heck of a lot of stuff but Folic Acid is needed for just about every function in the body...deficiencies in it can be quite serious.)

Did I mention that over 70% of the tested population have been found with some combination of variants?   I'd say that's pretty common.

 My personal story?

This disorder was first brought to my attention (as in me, Melanie) by Dr. Neil Rawlins, a local, Richland, WA OBGYN, when I was pregnant with baby #4.  

He looked at my personal history of depression, anxiety, and miscarriages...and my families history of depression, anxiety, heart disease, diabetes and high blood pressure and asked if I was willing to be tested.  I agreed.  I had a simple blood test done (blood tests only report variations on 677 and 1298) and was found to have one "faulty" site on one set (because you get one from each parent) of the MTHFR gene.  This is what is known as a heterozygous result.  This means that the MTHFR genes in my body only produce enough enzymes to break down Folate at about 55% to 70% efficiency, compared to an unaffected MTHFR gene.  (For more info on the break down of test results...see the chart on the bottom of the page).

What does this all mean?'s hard to explain so I will let this article explain it in simple terms.  (I have been researching it for 2 years and I STILL get a bit confused sometimes).

 Local doctor helps treat genetic disorder that causes depression
by Elena Olmstead for TCAJoB

"Dr. Neil Rawlins, a Richland obstetrician and gynecologist, may not seem like he would be the main contact when it comes to dealing with medical problems caused by common genetic variants.

But Rawlins has spent the past several years learning about, working on and giving presentations about Methylenetetrahydrofolate Reductase (MTHFR), a genetic variant affecting the body's ability to brake down folic acid.  It can lead to health problems ranging from depression to nerve pain.

For Rawlins, the journey into studying MTHFR started as a personal one.  He said seven years ago his son cam back from a mission trip to Chile and never quite recovered.  Rawlins said his son was sick when he came home and he continued to get worse.  He said no one could identify exactly what was happening to his son.

'So we started doing research,' Rawlins said.

This is when he came across some of the work that was being done as part of the Human Genome project.  The project sought to identify genetic disorders that cause diseases and find ways to treat the cause of the illnesses and not just the symptoms..."

"...Rawlins explained having MTHFR means the body can't efficiently break down folic acid it takes in through food.  Rawlins said typically the body works to break folic acid down into a useable form called methylfolate.  He said this is the form of folic acid that is used by the brain to make serotonin, norepinephrine and dopamine.  If the body isn't getting enough methylfolate it can't make the proper amount of these neurotransmitters and can lead to people suffering from depression, memory loss and nerve pain..."

"...he said someone with MTHFR who suffers from depression is typically not creating the right balance of neurotransmitters, including serotonin, which the body needs.  And while typical antidepressants work to regulate the body's use of the neurotransmitters it is able to produce, it doesn't do anything to help create more."  [But taking methylfolate, which I currently buy over-the-counter (you can e-mail me for more info on where I get it), DOES help raise these hormone levels above "stabilization"...of this I can personally attest.]

"[Rawlins] said research over the past several years has shown taking Deplin [which is the prescription form of methylfolate], or most other forms of methylfolate [5-MTHF is one], is like taking a vitamin (aka NATURAL!!!!).  He said test have shown patients record more side effects with a sugar pill than with methylfolate."

He used to order blood test to determine if people had the genetic variant before he started treatment.  ", he said, he simply asks people to try it [the methylfolate] if they think it might help.  He said the only thing people will be out is the money they spend to buy the [product].

"It's one of these things that has made a lot of difference in a lot of people who nothing else worked for."

---article published in the Tri-Cities Area Journal of Business in December of 2010


I really, truly have a personal testimony of this.  The more I learn about it, the more I believe that "they" are on to something.  :)

Taking Methylfolate has made a HUGE difference for me!  HUGE!


...taking my recovery from merely "SURVIVING" to "THRIVING"

I would recommend, at least looking into it, to ANYONE and EVERYONE who is suffering, or knows someone who is suffering, from any one of the symptoms/conditions listed above.  It is totally WORTH it and its 100% natural!

Interested?  Want more info?

I HIGHLY recommend watching this presentation or "talk" on MTHFR recently given by Dr. Rawlins here in the Tri-City, WA area.  Very useful, very informative.  It's 51 min long...but well worth your time.

--Link to a few websites with information provided by Dr. Rawlins niece @ (videos are out of date but scroll down to see written info) and himself @

--Link to Dr. Steven Smith's website (a local doctor who specializes in "functional and integrative medicine---treating the 'whole you' not just a symptom")

--Link to Dr Becky Andrew's website (doctor of Mosaic and natural medicine)

--Link to blog "Life Without Folate"

--Link to blog "Finding The Root Cause" (an excellent source if you have questions about Autism)

-- Link to Wikipedia (for all you people out there that can understand 4 and 5 syllable words)

You can e-mail me @ melaniesmethodicalmusings dot gmail dot com for more details or if you have questions.  

Info on MTHFR testing:

MTHFR tests only two of the common genetic variants (677 and 1298). 

There are as many as 50+ variants to this gene alone.  You get one gene from both and dad.  

Heterozygous means there is one gene variant present, from either mom OR dad.
Homozygous means there are two gene variants present, from BOTH mom AND dad.
Compound Homozygous means there are four gene variant present, BOTH 677 and 1298 variants from BOTH mom AND dad.

Possible combinations of these two are:

Normal/Normal for both 677 and 1298
Normal 677 / Heterozygous 1298 --(this one is me)
Normal 677 / Homozygous 1298
Normal 1298 / Heterozygous 677
Normal 1298 / Homozygous 677
Heterozygous 677 / Homozygous for 1298
Homozygous 677 / Heterozygous for 1298

Heterozygous 677 / Heterozygous 1298 
Homozygous 677 / Homozygous 1298  (aka Compound Homozygous)

Disclaimer:  I, Melanie, am not a doctor, a nutritionist or a drug rep and I do NOT work for any supplement company.  In other words...I personally receive NO monetary benefits and hold no responsibility by sharing the  information associated with this page and it's contents.  I'm just a believer and can't help but share what little I know.  The information herein is not inteded as a form of diagnosis, treatment or cure for any disease/condition.  If you think you might benefit from taking methylfolate in any form, I recommend contacting your physician and talking it over with them first.  There...I've said my piece.

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