MTHFR

[Saree_maree]

Can somebody knowledgeable on this subject help me understand what this means (from my genetic testing results)?:

 

"MTHFR C677T genotype C/T; A1298C genotype A/C. MTHFR genotype (one copy of the C677T mutation and one copy of the A1298C mutation) is associated with low enzyme activity."

 

My physician is useless and my Internet research is just making me more confused.

 

Thanks.

[praxisproject]

Hi Saree

 

I have MTHFR too, but I have two copies of C677T. I struggle with the h words they use but I think you are classed as "compound heterozygous" which means you got one gene from each parent (this also means family members should get tested).

 

From what I understand, you're more unusual having one of each and as you have both, you may need different treatments than I do.

You'll find some info on the forums, but you really need someone to do some blood work to know more about how it affects you.

Some people have the genes but show no symptoms at all. Just because you have the gene/s, doesn't mean you have a problem (I have too much homocysteine and a bunch of other things are off too).

 

Locally, this site has been very helpful to me: http://www.mthfrsupport.com.au/ (we have different laws for medication here in Australia so locally you may be able to get other treatments where you are).

 

When looking for a physician, you need someone who understands the methylation cycle (which is part of cellular renewal across your whole body). It might be a naturopath or an endocrinologist or other specialist.

 

I work from my blood work with my naturopath and it's still a work in progress, but I feel much better

[leslie706]

Can I be completely crass and say that when I read this, I thought it was short hand for a curse word? I was like "Yes! I've been there in that moment too."

[ShannonM816]

Can I be completely crass and say that when I read this, I thought it was short hand for a curse word? I was like "Yes! I've been there in that moment too."

 

You'll notice that Praxisproject mentions it in her signature that's on every post she makes, has had it that way for months and months -- I'm just now getting to the point that I don't think that every time I see it.

[leslie706]

We are mental thirteen year olds ;-)

I access the forum on my phone, I miss the signatures. I'm going to have to take a look :-)

[praxisproject]

haha, in many MTHFR forums it's referred to as the Samuel L Jackson gene

 

Some software blocks it as a swear word.

[Abbiewhole30]

HI! I was recently diagnosed with this as well (very recently, as in less than 2 weeks ago). The most important take away I've had: Since my body can't process folic acid very well I needed to go on a supplement of active folate, and also cut out all foods that have folic acid added into them (not a worry while doing whole30 but a concern for after- basically all processed grains have synthetic folic acid added to them). From what I hear you can't really test folate levels via bloodwork. The bloodwork will test for folic acid- which is not the issue- the folic acid is there its that your body can't do what it needs to do with it. So you can have a folate deficiency and be completely unaware, which can lead to a variety of health problems- which is why I am on the supplements now (it also impacts B vitamins).

 

I'm just starting to learn what all of this means for me- would love to hear more about what you're figured out since posting this, if whole30 ended up helping you, etc etc. 

[praxisproject]

Hi Abbie

 

Whole30 was a huge help for me, it actually helped diagnose my MTHFR as I was really so much healthier (also was undiagnosed celiac so had been eating wheat before my first Whole30). Although I was way healthier, my blood work was "weird".

 

You need the right kind of bloodwork and the right kind of doctor/naturopath who understands it. Some of the testing facilities give very vague reports back to the doctors (like "in range", "normal") without any actual numbers in the paperwork, in those there's literally nothing to analyse.

 

I test great for B12, I have loads of it in my blood, but, I can't convert it so I can't use it (so I'm actually deficient) and it shows up elsewhere in my bloodwork (the things it's supposed to convert in to, I'm extremely low in), things it's supposed to help get rid of from my blood (like homocysteine) I'm really high in.

 

So while some things can't be tested directly, almost all of the methylation cycle can be tested, but you need someone who knows it very well (my GP is lovely but this was way out of his league), I found a naturopath who specialises in "tricky" metabolic disorders and she knows all the methylation pathways, as well as lots of other stuff like hormones.

 

The different types of MTHFR have different symptoms and treatment, do you know what kind you are?

 

This is a bit blurry but it's how mine is, mine breaks down and my blood work shows it.

http://2.bp.blogspot.com/-h-QPHkKR254/UDdS8Jo4WTI/AAAAAAAAAM4/xJ6a9G_x670/s1600/MTHFR.jpg

[CGinDC]

Hi all, I just got some labs back from my doctor. I'm positive for one copy of the MTHFR A1298C mutation - not a surprise, since my sister recently tested positive for two copies. However, I'm currently trying to get pregnant and one of the risks my doctor listed was fetal development issues. I've already started taking a supplement that contains both methyl folate and methyl B12. What else can I do? My doctor doesn't seem to be very knowledgeable about the mutation or its effects.

[praxisproject]

If you're looking to have a baby, see if you can find a specialist. MTHFR can have some serious negatives on fetal development if there's an issue which is not treated.

 

However, just because you have the gene doesn't mean you have any symptoms or issues.

 

I have a different kind of MTHFR, but my blood tests show very high levels of homocysteine and other pathway failures (buildups due to lack of conversion and deficiencies further down the pathway). Your bloodwork can be fine, even with the genes.

[CGinDC]

Funny you should mention babies, I found out this morning that I'm pregnant! I'll definitely look into specialists, but I'm a little encouraged that the mutation I have seems to be the less risky one. And thankfully it's only one copy.

[CGinDC]

Also, I should mention that I got tested because my sister tested positive for two copies. And she's had three healthy babies. So, while I'm definitely concerned, I'm trying to stay positive and read as much as I can about it.

[praxisproject]

Congratulations!

 

Your OBGYN may be able to recommend a MTHFR specialist for pregnancy.

 

If they're really not sure what they're looking for, a functional naturopath (or other specialist) familiar with methylation pathways who can test for and read methylation blood results is what you're after.

[CGinDC]

Thanks Praxis. My OB/GYN is squeezing me in for an appointment this afternoon - hoping to get a referral from him.

[marmiemama]

I found out I have one copy of C677T a few years ago (along with a dairy sensitivity), but only just recently connecting the dots to chronic bursitis in multiple joints, fibromyalgia, etc. that could be caused from this.  My left shoulder has advanced to a bone spur, lots of bursitis and tendonosis, which orthopedic doctor would now like to operate on.   I wasn't being looked at having a systemic issue (RA, Lupus, etc. ruled out).  I've had Lyme a couple of times, but this is different...definitely bursitis, not internal joint pain.  Friday, I saw a nurse practitioner who specializes in treating MTHFR and she has suggested getting the 23andme full genetic panel to see if there are any other mutations.  Praxis, is something like this where you saw the pathway problems or was it just a general blood workup?  Weighing the cost of the test and then cost of the nutritional/supplement suggestions from the practitioner.  She was extremely happy that I was on the whole 30, though.  Currently taking methyl folate and methylated sublingual B12 (with Vit. D, Vit. C, curcumin, and boswellia).  

 

Day 15...increase in pain today for unknown reason...

 

Oh, and congratulations, CG!

[praxisproject]

I'm a C667T too, but I have two copies

 

Mine was tested because of extremely low B12, combined with high homocysteine and some other strange numbers (blood work that didn't add up).

So mine went from:

Not feeling great > Blood work > Results were weird > Extra tests to rule things out > MTHFR test results.

My naturopath is very good with the methylation pathway, so she wanted to rule out MTHFR as my blood work did point in that direction (failing to convert and use B12). I didn't get the full 23andme but we have cheaper and different diagnostic tests in Australia, so I didn't need it to get diagnosed.

 

I believe the USA has a treatment option not available here, but I take two Metagenics supplements that make a difference for me:

• Metagenics Metagen B12 Folate
• Hemagenics Iron Advanced with 5-MTHF (I'm also at least a bit anemic most of the time and this is not for normal iron deficiency)

I also take Vit D3, Vit C, Magnesium (currently also with Taurine), CoQ10, Vitamin K2 and Omega 3. I don't always tolerate curcumin by tablet, so I have it sometimes and also take a break from it. My homocysteine is still too high, but we're working on it. Everything else seems more stable. Have not yet had a post-Taurine test to see how that has gone.

 

Different types of MTHFR have different issues, and even if you're Type Whatever, not everyone gets symptoms, or all symptoms

[CGinDC]

My gynecologist didn't know anything about MTHFR and my first OB appointment is on Monday. I'm hoping he might have more information, because my primary care doctor is also completely clueless. When I had the genetic results sent to him he sent me a referral for a hematologist....just one more doctor to see. I've already got monthly visits to my OB and Endo on deck...it's going to be hard to hide this pregnancy for very long at work if I'm out so much!

[praxisproject]

There's some good info on here for your docs, including a diagram of where in the methylation cycle it breaks down:

http://www.mthfrsupport.com.au/what-is-mthfr/

 

The hematologist should be able to work out what to test for.

 

For me, I needed multiple tests from the same blood draw (not different draws) to see whether they could see evidence in my blood of conversion or failure to convert. Although some types of tests are standard worldwide, this type of test seems to vary a lot locally.

 

From my understanding, IF you're seeing symptoms (just because you have the gene doesn't mean you have a problem) anything in the blood that's high is potentially something we're either unable to use/convert or something which should naturally be cleared by something we're missing.

 

My originally blood work showed high B12 (not deficient as the test I did measures the level in the blood, I had heaps as it wasn't going anywhere) but other tests showed high "garbage" (including homocysteine) which wasn't clearing out (they could see build ups) because my blood didn't have the stuff it needed to do it's job. So they were able to work out that I wasn't converting the B12, so tested me for MTHFR. Took some MTHFR formulated B12 for awhile (5-MTHF), did some more bloodwork and now it's all pretty normal except for the homocysteine is still a bit too high (I also feel good, which I didn't before). It's hard for GPs to identify this as many of mine thought I was B12 deficient by symptom, so I'd been tested for it a lot, but every time the test said I had heaps (because I couldn't use it, it was the pre-conversion form, B12 goes though about 5 conversion steps before humans use it, the special supplements give you the end version, no conversion required - it bypasses the malfunction).

 

I'm MTHFR C677T Homozygous which means with two copies, I can have up to 70% loss of function and they think at my worst it was probably around that level, but not always so high. One copy is up to 40%, this is why it's important to know your MTHFR type as they have slightly different parameters.

[macejaran]

Can somebody knowledgeable on this subject help me understand what this means (from my genetic testing results)?:

 

"MTHFR C677T genotype C/T; A1298C genotype A/C. MTHFR genotype (one copy of the C677T mutation and one copy of the A1298C mutation) is associated with low enzyme activity."

 

My physician is useless and my Internet research is just making me more confused.

 

Thanks.

 

Genetic test results are typically reported as negative or positive. If it is positive, then report will name the mutations present. You probably have compound heterozygous which has one copy of C677T and one copy of A1298C. Visit http://www.mthfrdoctors.com/ and consult a professional mthfr doctor in your surroundings.

[Adnorl]

I am homozygous MTHFR positive.  I have rally found nothing on this except to watch Homocysistine levels.  None of my doctors seem to concerned with this, even though I have an autoimmune disease.  It is all very confusing.

[praxisproject]

Adnorl, did they give you a code like C677T or A1298C ?

[Rourou]

Hi everybody, My daughter is born since one month and just after one day from its birth she has an avc. After several analysis they found she has a mthfr mutation (homosygot). As I see several people suffer from this mutation but discover it suddenly without having serious health problems as my daughter. My question is why the mutation influnced directly on my daughter health after just one day from her birth?

[ShannonM816]

1 hour ago, Rourou said:

Hi everybody, My daughter is born since one month and just after one day from its birth she has an avc. After several analysis they found she has a mthfr mutation (homosygot). As I see several people suffer from this mutation but discover it suddenly without having serious health problems as my daughter. My question is why the mutation influnced directly on my daughter health after just one day from her birth?

This is really something better discussed with a doctor, they'll be able to give you specifics about your daughter's condition. 

I do hope that she's okay, and that you get answers and find doctors who will sit down and address your concerns, and can help your daughter.