MTHFR gene mutation, the journey thus far. EVERYONE GET TESTED!

Can you tell me where you can get tested for this?? Someone said 23andme but they say on their website that their testing for it is spotty. Thank you for this information!

Did your insurance cover the methation treatment? Idk what that is but I'm about to google it!

My MTHFR just came back "heterozygous for C", but I don't see my LLMD again until the end of April. Is there anything you know of I could do in the meantime to get a jump start on this??

I would LOVE to be able to clean my house!!! I've been so depressed this week as I lay here in my PJ's, too much pain and not enough energy for anything :(

Very helpful and interesting samjones!

Btw good to hear from you! I'd been wondering where you'd been lately :)

So is MTHFR related to Lyme in any way? I guess what I'm asking could some just have this problem and it be mistaken for Lyme disease?

Idk if its because of this herx or what but this MTHFR stuff is just really baffling to me, I can't quite comprehend, so I'm sorry of I'm asking ridiculous questions. I simply have no idea. Just when I think I've figured it out I seem to forget!!!! Maybe I need a nice long detox bath to clear my head...

:) yeah from being so sick, that other word is all i see

great, I have that gene, so under my breath I can use that other word,

i dont know what to do about it, though

great, again can use that word, :) lol

got to laugh at something...:)

Its interesting that you ask that Lymer (if MTHFR can be mistaken for lyme disease). I spoke to a naturopath, and he says that he has found some cases where the lyme disease was cured, but many symptoms remained and people were being treated for lyme when they really needed treatment for MTHFR instead.

Let me try and explain this really simply (I understand how it is baffling, especially with a brain fog). We need folic acid, b12, and b6 for so many functions in our bodies. But many vitamins we take (because thats the way most companies sell them) are not in an active form. The human body must take folic acid, and after 4 processes, turn it into it's active form called l-methylfolate. Same goes for B12 and B6. Well, us folks with the MTHFR gene mutation can't effectively turn folic acid, B12, or B6 into their active forms. This is true of the c667t mutation.
As for the a1298c mutation, it can further impair methylation, but it can interfere with the recycling of tetrahydrobiopterin (BH4). BH4 is an essential cofactor in converting l-tyrosine (an amino acid the body makes) to l-dopa (another amino acid). BH4 also helps break down ammonia, phenylalanine, and other toxins from the body. low levels of BH4 can affect the following neurotransmitters in the brain: seratonin, dopamine, melatonin, norepinephrine, and epinephrine. It is a cofactor in nitric oxide levels.

http://www.sigmaaldrich.com/etc/medialib/docs/Sigma-Aldrich/General_Information/metabolicpathways_updated_02_07.Par.0001.File.tmp/metabolic_pathways_poster.pdf

That chart (if you increase the size) shows you all the things that can be affected by an MTHFR mutation. Some ways directly, others indirectly. Think of the mutation like a domino effect.

Thats a simplified explanation of the mutations. Each mutation has a different therapy. I hope it cleared some things up for you and didn't make it more confusing...

I know this is a bit of an old thread, but I'm wondering if anyone is still here and can help me understand the difference between the MTHFR mutation, the DetoxiGenomic profile, and 23andme.

I'm trying to interpret the results of my DetoxiGenomic profile, and I'm wondering if it has anything to do with MTHFR or not, or if I should get tested for that as well.

Thanks!

I have the mutuation, now what?

what do I do?

which mutation do you have wellbeautifulspirit? Do you have a hetero or homozygous mutation?

It's great that you brought this up! My LLMD just talked to me about it at my appt. last week. She said that she puts most of her patients on methyl B vitamins anyway, so doesn't typically test. I'm on methyl B12 and she wants me to start methyl folate. She didn't mention the B6 form though, so I need to ask her about that. Where did you find the methyl folate?

B6 is P-5-P in it's active form. I buy my folate from a company called solgar. There are a lot of folates that claim to be the active form and are not. Tis folate is as in Metafolin, which is. the a1298 mutation, where it can have problems with methylation, putting someone on b12, b6, and folate will not fix them. People with this mutation have a problem with BH4. That's the supplement needed. I don't have this mutation, but my daughter does. We started first on the methylation process (she also has the 677 mutation), and then we will slowly add whatever else she needs. It is alo a good idea to add 400 mg od vitamin e and 900 ml of NAC. That helps with glutathione production.

The next step was that my daughter and I had our amino acid and organic acids tested. These gene mutation interfer with that process. And we actually just recieved our results yeasterday. Bot was I low on a lot of different things, all things that have something to do with the methylation process, low glutatamine, methione, citrulline, arginine, ethanolmine, asparagine, hydroxyproline, etc... the list goes on. Hopefully, methylation will help all of these, but it is a slow process because I also have the HLA markers. THe next step is to get work on vitamin and minerals based on many of the results. Some things could be because I am deficient in vitamins.

Oh a note on the organic and amino acids test, you should have both the blood and urine tested. According to my bloodwork, everything is fine. It's my urine where everything is so off. From what I have read, the urine better suggests what the body is using and the blood just kind of holds it. SO it seems urine is more the important marker for deficiencies, autoimmune diseases, and gene mutation info (regarding the damage it is doing).

It was very inereting when my naturopath suggested that it coould be the toxins and the damage it does that could be giving me many of my symptoms. And as I read everything that low or high levels of these things do, I really do wonder, after 3 years of lyme treatment, how much of this is really still the lyme, and how much of it is the aftermath of the damage that lyme caused. And now its cleanup time...

what is the name of the test?
can my primary care doc order it? if so i need the name cause they are clueless

I am still waiting on my 23andme test results, they will show a lot more. I have the MTHFR c667t gene mutation (just one) and I have the double HLA marker for the multi susceptible gene, stating that it is nearly impossible for me to detox. I also have a double HLA-DQ3. I know that is the one for RA, but I don't know much else for it. I am still researching. As for my daughter she has bother the a1298 and the c667.

Before my organic acids and amino acids test,my doctor said that having only one of the mutations wouldn't do anything. According to these other tests, that couldn't be further from the truth. All the amino acids that were low were directly involved in an inability to methylate. Don't have enough glutation, etc. A lot of these mutations can also cause seizures, and I had seizures for 18 years! I don't know if it was the lyme, mutations, toxins or what. I think it was a combination of it all. But I havent had a seizure in years and I have been off my meds for 1.5 years... Amazing!