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MTHFR gene: you WANT to know if you have a mutation

Thursday, April 26, 2012

MTHFR - it's both a gene and an enzyme. If you have a polymorphism in one of two known genes, your MTHFR enzyme won't work effectively. Implications for the following health issues are involved, and that's why you should know/care (think about your family medical history, too):

Addictions: smoking, drugs, alcohol
Down’s syndrome
Pulmonary embolisms
Depression in Post-Menopausal Women
Chronic Fatigue Syndrome
Chemical Sensitivity
Irritable Bowel Syndrome
Spina bifida
Esophageal Squamous cell carcinoma
Acute Lymphoblastic Leukemia
Vascular Dementia
Bipolar disorder
Colorectal Adenoma
Idiopathic male infertility
Blood clots
Rectal cancer
Congenital Heart Defects
Infant depression via epigenetic processes caused by maternal depression
Deficits in childhood cognitive development
Gastric Cancer
Migraines with aura
High homocysteine
Post-menopausal breast cancer
Oral Clefts
Type 1 Diabetes
Primary Closed Angle Glaucoma
Tetralogy of Fallot [congenital heart defect]
Decreased telomere length
Potential drug toxicities: methotrexate, anti-epileptics
Cervical dysplasia
Increased bone fracture risk in post-menopausal women
Multiple Sclerosis
Essential Hypertension
Differentiated Thyroid Carcinoma
Prostate Cancer
Premature Death
Placental Abruption [ie miscarriage]
Myocardial Infarction (Heart Attack)
Methotrexate Toxicity
Nitrous Oxide Toxicity
Heart Murmurs
Tight Anal Sphincters
Tongue Tie
Midline Defects (many are listed above)

Phew, right? I found info on Youtube about fibro and the MTHFR gene, so I immediately checked on my DNA results from 23andme test (blogged about testing here: ). 23andme doesn't code their genes the same as the online info, so I had to decode it with help. Neither sister nor I have the polymorphism in either allele (yay and boo. boo because I was looking for an easy fibro fix/answer); and however, DH does have one gene polymorphism (boo).

If you carry MTHFR C677T or A1298C or a few more rare mutations; you can't convert dietary folate or recycle used folate. So no matter how much folate you take, you can't convert enough to be healthy.

Doctors don't routinely screen patients for this, so look at the list to see if it might behoove you to ask for the genetic test. I don't believe it's covered by insurance, but you could ask. It costs around $150 and could save your quality if not your life, which is well worth the cost.

Treatment is taking the correct form of folate, not some over-the-counter folic acid and other personalized to you B vitamins; and/or it might be to lower your folate intake. How do you do that? Reduce your processed foods/grains as folate is fortified in them, take note of your folate type in your multi-vitamin (it's likely NOT methyl-sourced as manufacturers prefer cheap sources), and make sure you take methyl-sourced folate. If you read the links, you'll find good information to take to your doctor. Ten to 50% of the population have some sort of mutation.

Awesome Source:

Dr. Neil Rawlins' videos on youtube:

New Yahoo Chat: MTHFR basics here: ,
and treatment options here:

and the link that started my "methyl-tetra-hydro-folate reductase" studies (about fibro and MTHFR): short and sweet:

and from a dental perspective:


I got my Spectracell ( www.spectracell.c
) results and I was low in serine (an amino acid I know not much about), omega-3s (haven't been using my fish oil but will), and GLUTATHIONE. This is actually a better report than my previous test two years ago . You'd think for sure that I'd have that darned gene mutation having low GLUTATHIONE (again)... but really, it comes down to not eating ENOUGH fruit and veg. for my biology. I eat them daily, BUT I'm not eating ENOUGH (even w/a big a$$ salad most days). GLUTATHIONE = ANTIOXIDANTS. Hmm, make that veg, not fruit so much, and why? I'll leave that for the Mother Post. I love fruit. STILL reversed on copper/zinc which deserves its own blog post; which may have to do with B vitamins and methyl pathways (and you'd guess by the topic of this post, MTHFR ... maybe I decoded my alleles wrong - ha). Oh, to be a biochemist. Dr. friend says to ask my doc, "WHY would my glutathione be low?" and I never thought of that. I just assumed mine would be ...

I take note of Dr. Terry Wahls who recovered much of her quality of life from Multiple Sclerosis by going paleo and eating much veg. I bought her book ( on behalf of helping an MS friend- I should blog about her!) years ago, and it's nice to see what a splash she's been making on the web via TED TALKS and Mercola, Mark's Daily Apple, etc.

... I knew I needed to take N-A-C (for glutathione) two years ago, but for some reason I can't remember why, I never used it. I think it might be contra-indicated for another problem I might have (yes, I'll talk about it in the Mother Post if I ever get to it).

I'm not sleeping, I'm not eating much (that also has to do with the Mother Post). I'm a mess. I sent DH a card for our 31st anniversary on Monday for Wednesday, and the post office sent us a letter yesterday that mail OUT was destroyed in a postal car fire. The Vita-Mix lid wasn't on tight and I had to clean up green smoothie 'wallpaper' all over the kitchen :P. The dog diarrhea-d all over my master bedroom, bath and office yesterday as a fine howdy-doo doo. I ruined the wood floor in the office cleaning it up (one of the ones I just got refinished).

Edit: P.S. it likely IS covered by insurance!!! Check!

[deleted some stuff here, so the comments won't make sense if you're reading that far. sorry.]

"Out of adversity, comes opportunity." I will take it day by day, minute by minute right now and hope for the best.
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Member Comments About This Blog Post
    Gotta follow your links to learn more about this; but reading that list of issues it is involved with, I can't help but read that acronym and think "mutha-effer gene". [Hope I didn't offend too much. But man, what a gene!]

    Oh, and yeah... my husband is on the Autism Spectrum, comes from a family of alcoholics, has Type 1 Diabetes and I have Bipolar Disorder. My husband more than likely has that gene expressing and I probably do, so does that mean our daughter is effed?
    2037 days ago

    Comment edited on: 5/14/2012 12:44:18 PM
    Wow! I am so sorry! If you ever need an know where to find me!
    2055 days ago
    I was reading right along and enjoying your usual lab info when I came to the last part and felt like I had been socked in the gut. I have been through this and I don't want you to have to go through it. I will be praying for your hubby and you both. Love you girl.
    2055 days ago
  • -LINDA_S
    So sorry for all you're going through. I have a friend I need to tell about this MTHFR stuff. I worry a lot about my glutathione, which is notoriously low in most AIDS patients. I do NAC, Alpha Lipoic acid, selenium and usually whey protein powder (when I'm not checking to see if I have a dairy allergy). I think it was OK in my NutrEval test, so maybe something's helping.

    I wish you the best. This too shall pass. Or at least some of it will get better.

    2055 days ago
    Very sorry to hear of your troubles and hoping you find your answers and comfort soon emoticon


    Smile and Enjoy the Rest of Your Day!
    Melinda (gopintos)
    Dr Oz Show Fans Team
    2055 days ago
    I'm an atheist so won't be saying any prayers but will think of you and hope that things get better 'cause what's happening just now in your life sounds bloody awful. I'm going to send this blog to a friend of mine who has a lot of the symptoms you've talked about and is off in la la land trying to find help from a hypnotherapist and a Chinese doctor who told her to take lots of honey with ginger tea. She won't believe me when I explain that she's having HORRIBLE episodes of hypoglycemia because of it. Her partner won't stop eating tons of sugar and gluten. It's frustrating wanting so much to help someone and getting nowhere.
    2055 days ago
    I love you Dots. My heart is aching for you both and I'm praying for you BIG. My SIL is in town so I can't message you at least until late Saturday but in the meantime just know I'm here & I care very much. I've walked this road and we'll talk.
    2055 days ago
    2055 days ago
    thank you for the blog and I'm sorry you are having problems. You will be in my prayers. I have 4-5 symptoms from your list might have to get the test if Medicare will cover it. Wouldn't it be great if that was my problem then I would be "normal" as anyone can be in this day and age. Take care and I wish you the best. Lucinda
    2055 days ago
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