MTHFR - yes I know that looks provocative :-)

[Stanz]

Hi all,

I know I've been a bad PP'ler and gone for a long time and I apologize, but those of you who I'm in contact w/off this site know I'm just really going through a struggle dealing with personal issues.

My daughter, the molecular biology major, has recently had some genetic testing done and found that she has two copies of the a1298c mutation. This means she got one from both parents and for the last month she has been on a whole different regimen which has been amazingly helpful for her. She is the daughter who was first to tell me to stop eating gluten almost 2 years before I did, 18 mos. before my dx/w/MC. She is Paleo. She is brilliant, had a 1520 SAT, is a published scientist who also is dx bipolar and ADD and t's been a struggle for her all her life, but she has always excelled. She has't had the Enterolab tests done, but her kids, my other daughter and her son have all been tested and all but her daughter have my 501 and a second gs gene from their Dad.

This could explain a lot for a lot of us, IMO. She is unable to absorb many vital nutrients because of this. She has had the C problems, I have had the D problems, but that is of little significance in the long run for those of us with GS, as we all know. Both my daughters have had problems with depression, as have I, they've tried numerous meds that didn't work. I have a history of trauma, they don't, but have always felt guilty that somehow that it was me who screwed them up and maybe I didn't, maybe it's all just genetics/brain chemistry. Links are in her email that follows:

"Hey,

I just remembered that a really good (and obvious!) site is just www.mthfr.net. This is a site devoted to clarifying the mutations and sorts through all the data out there, written and maintained by a doctor who seems to have made this his life's work and is not selling anything.

Here's a link to his discussion of the 1298 mutation specifically:
http://mthfr.net/mthfr-a1298c-mutation- ... 1/11/30/If you've looked by now you've seen tons of info out there, much of it contradictory - because this has been researched since the 80's and there's a lot of outdated info on there. Read also his info on the different forms of L-methylfolate supplements; if you go on Amazon you can find supplements that are and many that ARE NOT the one you want - but none of them are as strong or as pure as the prescription ones (I'm taking Deplin, 15 mg), so if you add up the cost of the cheaper supplements it is really not any cheaper.

I would say that, since you have at least one copy of the 1298 variant, then genetic testing may not really be necessary - unless you can find a lab who will test just for that and do it cheap? My test was REALLY expensive it turned out, and I'm still waiting to hear if I am going to have to pay for any of it. Anyway...maybe just ask your doctor and naturopath about it, and see if she/he feels comfortable just giving you a prescription for Deplin? It comes in 7.5 or 15 mg doses...

I guess you should also keep in mind that I also have the crappy serotonin transporter gene, and so am also on a low-dose of celexa (for just a mild boost of serotonin availability) plus a very low dose of the tricyclic anti-depressant desipramine (which boosts dopamine and norepinephrine - have never taken that particular one before). It is the combination of the 3 [celexa + desipramine + the Deplin (L-methylfolate supplement)] that is working wonders; I seemed to start feeling better after just the celexa + desipramine, and then once I got the Deplin it just all clicked (and I'm having little or no apparent side effects since the drug doses are so low).

I guess I would describe the way I feel now as just calm and at ease; not particularly "happy," but just free from the anxiety and sadness (which was usually completely mysterious - that is, without any apparent cause) that seemed to pervade nearly every waking moment and prevented me from really being present with my kids. The kids have even commented on it (without knowing anything about the meds), and they seem happier too now that mom is better. Knock on wood...it's been a little less than a month; we'll see what happens as I enter the usual PMS period, any minute now.

I'll keep ya posted :)"

You never know what might open a door to some answers. With this double mutation she is unable to absorb folic acid. Just throwing this out there to my fellow researchers, but thought it was interesting, esp. in my case, that heavy metal poisoning is a common condition and that was where I started in my research in '98, as a way to stop the fibromyalgia-like pain that I suffered for many years before I finally had my hair tested and found I was in the 97th percentile for lead poisoning and got chelation therapy.

The link to specifics on the gene we share is the second link in her email to me. Would appreciate any feedback any of you might have.

Stanz

[Stanz]

I have an appt. w/my new GP on 10/28 for a routine physical. I really like her although she looks about 15 years old to me, and have emailed her the links above and am awaiting her response.

[tex]

Hi Connie,

Actually, I believe that we have several other members who have that gene. Marliss for example, apparently has double copies:

http://www.perskyfarms.com/phpBB2/viewt ... r&start=15

Tex

[Stanz]

Thanks, Tex,

Interesting that Marliss and I have both posted on this in just the last few days. Maybe it's a key. Still in baby steps here investigating it.

Stanz

[Denise]

Interesting I have one copy of the MHTHR gene mutation which is the C677T. I was tested due to blood clots. It makes you wonder if it has a connection to the colitis.

Thanks for the post I will research further.

[Zizzle]

I often wonder if I have the mutation (probably only one copy). My friend's autistic daughter with certifiable high heavy metal levels has 2 mutations. It affects your ability to detox from all kinds of environmental toxins.

Interestingly, I attended a lecture given by a world-renknowned food allergy researcher. He was trying to tie the meteoric rise in food allergies in the late 1990s to changes in our practices. He said folic acid supplementation of processed grain foods started in the early 90s, as well as taking folic Acid in pregnancy for the prevention of neural tube defects. Seems to me anyone with these mutations and their offspring could have been hurt by all this folic acid. I believe prenatal vitamins should only include methylated forms of folic acid for this reason.
Has anyone ordered MTHFR gene tests from 23 and Me?

I understand a simple blood test for homocysteine levels (if you take folic acid) is a good screen for this mutation. If levels are high, you're not absorbing folic acid. If you have 2 mutations, the folic acid is downright toxic.

Am I correct that these mutations seem to coincide largely with European celiac genes? Or is there greater distribution in other races and nationalities?

[Stanz]

Want to make it clear that I am in the baby steps of researching this, but from what little I know, Zizzle, this has implications for mast cell problems and histamine problems from what I've learned thus far. I put this out here hoping that others will come to their own conclusions. We all just want to figure out WTH is going on w/us and I don't know the answers, yet.

[JLH]

This is all above my brain grade. However, I was thinking of having my younger daughter tested through 23 and Me since they reduced the price and it gives more information than EnteroLab. Reviews on Amazon cite privacy concerns...........

[Stanz]

HI Joan,

I've emailed my GP with links and she has my daughter's permission to look at her test results. This is a month away from my appt. w/her. Still researching and from what I know/have seen this doctor whose site I linked appears to be on an altruistic mission here, very similar to Dr. Kenneth Fine, so I'll have to do some more research on 23 and me.

CC

[Gloria]

I've been wondering about 23andme also. I'd like DH to get a genetic test and with their sale price at $99, it's cheaper than Enterolab. Enterolab doesn't do the genetic test; the Red Cross does, as I recall.

Gloria

[Stanz]

Still researching this, Gloria, hard to sort through the flack generated by what I can only assume are the drug companies.

[MBombardier]

I got my test done through 23andme. It takes about 10 weeks to get the results. I don't have the C677T mutation which hikes homocysteine levels. I have the a1298c and a double mutation in another gene that may indicate that my level of taurine or something needs to be evaluated and possibly tweaked before I should actually take the methyl forms of B vitamins I am taking, but at this point that is more than I want to deal with, and I have chosen to focus on other things.

After you get the raw data from 23andme you can run it through a few different websites. Geneticgenie is the one where you get the short version of the MTHFR report, and MTHFRsupport is where you get the long one which includes a detox profile, allergy/mold, IgG, IgA, thyroid, clotting factors, methylation, celiac, and eye health among other things. My naturopath sat there with my report in front of her, lots of red and yellow on it indicating double and single mutations, and wondered if I was unique or if this is what the world is like now. I told her that I had concluded some years ago by just seeing the diseases in my closest relatives that I had lost the genetic roulette.

There's another website called promethease that's fun to run the data through. I found out that I have blue eyes, am a red-hair and also a baldness carrier (no surprises there). I have a genes for empathy, high intelligence, and creativity, and I don't startle easily. Lest I get the big head, I also have genes for autism, schizophrenia, and bipolar disorder. I am likely to die of either an ischemic stroke or heart disease, but I knew that before any gene report told me.

A person could be consumed by what genes have single or double mutations and how to dodge this or that bullet. And I think there are steps to take (like going gluten-free, taking the right forms of supplements, etc.). But we are not our genes, and even the doctor behind the MTHFR support site who has made this his life's work practically, says that a double mutation in one of the genes is just a tiny part of the whole methylation cycle, which is going to work just fine most of the time.

So I'm trying to absorb what I have learned but not be afraid of it. God is in control after all, and I could die in an accident tomorrow.