Jump to content
ACN Latitudes Forums
tpotter

MTHFR positive!

Recommended Posts

One of my kids just came back for that. Now, please remind me, what do we do about it? Still waiting to find out if DS#2 is also

 

Also, I just googled it, and it says that it is very rare, and that only about 200,000 people have it. If that's the case, why do multiple people on this forum have it? Could it be significant?

Share this post


Link to post
Share on other sites

Can you please tell me laboratory and name of MTHFR test? I really want to get it for my DS. Thanks.

One of my kids just came back for that. Now, please remind me, what do we do about it? Still waiting to find out if DS#2 is also

 

Also, I just googled it, and it says that it is very rare, and that only about 200,000 people have it. If that's the case, why do multiple people on this forum have it? Could it be significant?

Share this post


Link to post
Share on other sites

Can you please tell me laboratory and name of MTHFR test? I really want to get it for my DS. Thanks.

One of my kids just came back for that. Now, please remind me, what do we do about it? Still waiting to find out if DS#2 is also

 

Also, I just googled it, and it says that it is very rare, and that only about 200,000 people have it. If that's the case, why do multiple people on this forum have it? Could it be significant?

 

 

Quest. They found one of the 2 positive. Since it's genetic, and I know it affects methylation, and the heart (and he does have a genetic heart condition, and there's hx of heart disease on both sides,) I want to know what next.

Share this post


Link to post
Share on other sites

My DS14 and I test compound heterozygous for mutations C677T and A129C on the MTHFR gene. I cannot explain it well, but it puts us at much higher risk for developing cardiac disease (among other issues) because we do not "methylate" well. I know some others will chime in with much better explanations of methylation issues. LLM always explains things concisely on this topic.

 

My son and I take Methyl B12 supplements 3x/week (I take injectable, he takes compounded sublingual liquid).

Share this post


Link to post
Share on other sites

Not sure where you read it's rare. From everything I've read, the C677 mutation is one of the most common mutations of this gene.

 

The most well-studied polymorphism related to the risk of neural tube defects changes a single DNA building block (nucleotide) in the MTHFR gene. Specifically, it replaces the nucleotide cytosine with the nucleotide thymine at position 677 (written as 677C>T). This variant, which is relatively common in many populations worldwide, produces a form of methylenetetrahydrofolate reductase that has reduced activity at higher temperatures (thermolabile). People with the thermolabile form of the enzyme have increased levels of homocysteine in their blood. http://ghr.nlm.nih.gov/gene/MTHFR

 

I doubt it has any relevance in the Pandas community vs any other community. It's not a "cause". However, it can play a role in the body's reduced ability to make seratonin and/or dopamine because it interferes with efficient methylation. In that respect, it may be one of those predisposing factors to the neuropsych symptoms. it also plays a big role in increasing your risks for heart disease, strokes and macular degeneration.

 

The treatment is to take methylfolate. Thorne sells it and at least one other company. We buy it here:

http://www.amazon.com/Thorne-Research-5-MTHF-5-Methyltetrahydrofolate-60s/dp/B001PLESO2/ref=sr_1_1?ie=UTF8&qid=1328620665&sr=8-1

 

lfran - you can get the test from any commercial lab - quest, labcorp, etc. Covered by insurance. Our cost was $50, but we'd met our deductible, so $10 out of pocket. The name is MTHFR. This is Quest's test http://www.questdiagnostics.com/hcp/testmenu/jsp/showTestMenu.jsp?fn=36165.html&labCode=NEL

Share this post


Link to post
Share on other sites

For this, I have taken Thorne's 5-MTHF, see below. I wouldn't think that methyl-B12 would get at the heart of this, as I understood it is a problem with processing of folate. The MTHRF stands for methylenetetrahydrofolate reductase, again relating to processing folate. I know there are many other supplements targeting this issue, some containing additional items like methyl-B12 and/or TMG (trimethylglycine?). I see why these additional items could help in restoring balance when starting out with 5-MTHF, but not sure why they would be needed long-term once balance is restored.

 

http://www.iherb.com/Thorne-Research-5-MTHF-1-mg-60-Veggie-Caps/18447?at=0

Share this post


Link to post
Share on other sites

Both my DS14 and DD12 take Thorne's Methyl-Guard 1x/day. They took it 3x/day for the first month of usage.

 

 

 

Can you tell me why they took it? My son has low homocystiene levels, and everything that I've read inicates taking the Methyl-guard to bring it down, not up. Does anyone know if this just regulates the homcysteine levels either way?

Share this post


Link to post
Share on other sites

Both my DS14 and DD12 take Thorne's Methyl-Guard 1x/day. They took it 3x/day for the first month of usage.

 

 

Thank you everyone. It's the 677T gene that is mutated in my DS, and I guess now the rest of us should get tested (DH has serious heart disease in his family, and he even had a mitral valve replacement last year.) DS16 and I both take methylcobalamin, and I guess I should give it to DS19? If so, how much? The sublingual pills I have are 1000 mg. I take 2 per day. LLMD wanted me to do shots, because my B12 levels were extremely low, but I had an allergic reaction to the shots (probably the protein that they "laced" it with <_< ) So, I've been taking 2000 mg per day, but have no idea if it's even helping.

 

Then again, DS16 and I do still keep getting sick. We've been detoxing (every day when I can remember in time), but we are still by far the sickest.

Share this post


Link to post
Share on other sites

OK...now it's getting more interesting. Both my DS's take a product called: Methyl Protect from Xymogen. It has 1000 mcg of folate & 1000 mcg of methylcabolomin (I just looked at the ingredients) + it has B6 and B2 in it. Yet, we are sick all the time.

Share this post


Link to post
Share on other sites

OK, at the risk of sounding really stupid, I have to tell you I don't know exactly why my children are taking Methyl Guard other than the fact that my doctor tells me to give it to them (and they both have MTHFR mutations - see my earlier post). I am on overload and don't always ask the doc specifics about her recommended supps. Nor do I know if it helps since we have added so many things in simultaneously in the last 9 months of treatment.

Share this post


Link to post
Share on other sites

OK, at the risk of sounding really stupid, I have to tell you I don't know exactly why my children are taking Methyl Guard other than the fact that my doctor tells me to give it to them (and they both have MTHFR mutations - see my earlier post). I am on overload and don't always ask the doc specifics about her recommended supps. Nor do I know if it helps since we have added so many things in simultaneously in the last 9 months of treatment.

 

 

:P I TOTALLY get it. That's why I'm trying to figure this out. Our holistic chiropractor did muscle testing, and found they needed it, but I didn't know at least one of them has MTHFR. Maybe he just picked up on it, and took care of it? But, for those of you who do know (maybe llm?) how do you know if your getting enough?

Share this post


Link to post
Share on other sites

When the MTHFR gene mutation is present, I would think supplementation to bypass the kink in the loop would be lifelong and not something that you can fix or restore because your genes aren't to change. We are also using the Thorne MTHR and will have the testing run in a couple weeks.

Share this post


Link to post
Share on other sites

LSS- if your son is low in homocysteine, who suggested the methylguard and why? I would think methylguard would be only for people who are having trouble either with energy or with high homocysteine, not low homocysteine. Or if you had a mutation on the MTHFR gene...

 

TPotter, methylfolate is the thing you need to add. B12 is also important, especially if you already know you're low. But as far the the MTHFR gene - it only tells you that the C677 mutation is impairing your body's ability to convert folate into methylfolate. It has nothing to do with how your body is or isn't using B12.

 

This is a really good overview of the issue:

http://www.lef.org/protocols/heart_circulatory/homocysteine_reduction_01.htm

I recommend reading the whole thing - it gives a good explanation of the role elevated homocysteine plays in heart disease etc. But the answer to your specific question is here:

 

The MTHFR C677T gene polymorphism is the single most important genetic determinant of blood homocysteine values in the general population. More than 40% of Hispanics and between 30-38% of whites living in the U.S. inherit at least one copy of this gene (Botto 2000),which impairs their ability to fully activate (methylate) folic acid to 5-methyltetrahydrofolate, the bioactive form of the B vitamin. Individuals who inherit this gene variant from both parents have a significantly higher (14-21%) risk of vascular disease than those who do not.

 

For this affected group, taking the bioactive folate supplement, 5-MTHF, may be a better strategy. 5-MTHF is clinically tested, is highly bioavailable (Willems 2004), can cross the blood-brain-barrier (Weir 1999), and is unlikely to mask a vitamin B12 deficiency as folic acid can do (Venn 2002). Those who carry this gene variant can safely reduce their risk of homocysteine-related health problems using an inexpensive, nonprescription natural folate supplement.

 

As I understand it, homocysteine can be broken down in one of two ways - it can be recycled back into the methylation cycle with methylfolate + B12 (called re-methylation) or it can be transformed (with B6 and CBS) into glutathione, which is the King of all anti-oxidants (this second transformation of bad homocysteine into something good is part of the trans-sulfuration cycle and is critical for detox).

 

So there are three possible things that can happen to homocysteine.

1. It can be remethylated via methylfolate + B12 (methylcobalmin)

2. It can be transformed into glutathione via CBS + B6 or

3. It can accumulate and remain unconverted (due to clogs in either 1 and/or 2) and elevate your risks of heart disease, stroke, etc.

 

Note - if you have KPU, you have a genetic obstacle in keeping enough B6 in your body (too many pyroles will bind to your zinc and B6 and cause you to pee it out before it gets used as part of trans-sulfuration), resulting in less glutathione, reduced detox ability and more damage from oxidative stress.

 

So it's technically not all "methylation" but it's all related. It's not a matter of just adding more of one thing. It's finding balance and making sure all the cycles and chain reactions have sufficient raw materials in bioavailable forms.

 

Tpotter - you mention you guys are still sick frequently. I'd ask your doctor about zinc and certainly pursue the KPU aspect. Zinc is the ammunition of the immune system - the bullets. Plus, when your body is diverting resources to fight a chronic infection, it may not have adequate raw materials to fuel the other processes that go on in the body. There are other essential vitamins, minerals and amino acids that come into play (e.g. Vitamin C etc) and inflammation to consider as well. There's a lot I don't understand about all of this and I'd certainly defer to your doctor's advice on what to take. It's a bit of trial and error and finding balance. And just when you get it right, something will change.

Edited by LLM

Share this post


Link to post
Share on other sites

Create an account or sign in to comment

You need to be a member in order to leave a comment

Create an account

Sign up for a new account in our community. It's easy!

Register a new account

Sign in

Already have an account? Sign in here.

Sign In Now



  • Announcements

    • Administrator



      Forum Community Guidelines

      Our forums provide support for people dealing with neurological and related issues. Everyone joining this community should find it a safe haven where they are treated with respect, civility, and understanding.

      Your agreement as a user: You agree that you will not use this forum to post or send messages that are knowingly false, inaccurate, abusive, vulgar, obscene, profane, or sexually oriented. Text should not be defamatory, harsh, accusatory, intimidating, slanderous, an invasive of a person's privacy, or violate any law. Doing so may lead to you being banned (and your service provider may be informed). The IP address of all posts is recorded to aid in enforcing these conditions. You agree that the webmaster, administrator, and moderators of this forum have the right to remove, edit, move, or close any topic at any time should they see fit. You agree not to post any copyrighted material unless the copyright is owned by you or by this forum/website. Advertisements, solicitations for services or business, most research requests, as well as any type of research on the content of these forums by third-parties, are prohibited. Unauthorized use or reproduction of posts on these forums is not allowed. Any user who feels that a posted message is objectionable is encouraged to contact an administrator.

      Announcements, media requests, and research requests

      These need administrative approval. Please send to an administrator before posting.

      Inappropriate content

      Members are here for support and education. Check the list below for types of posts that are not allowed: Advertisements Flames or messages meant to intimidate, criticize, or harass others Threatening or obscene messages Messages discussing a private message (PM) from others Copyrighted materials that you do not own the rights to, except educational or research articles Messages containing or condoning illegal acts; also messages of suicidal intent Direct discussion of politics (please avoid) Specific or strong religious views Requests for donations for other organizations unless approved by administrator Solicitation of members for research, media projects or other projects, without prior administrative approval About links for other websites:

      You may have links in your profile as long as they do not violate our guidelines (above). Links within a post to online resources and articles are generally OK. Do not post links to other forum communities with the aim of soliciting other members to that community, thereby taking them away from this community.

      When a guideline is violated

      If you violate a guideline, you will be contacted by PM or email. We will try to resolve things amicably. We don’t like to ban members and rarely do, but this is an option.

      Updated March 19, 2010
    • Administrator



      Disclaimer

      The ACN Online Discussion Boards are intended to provide helpful information and allow sharing of ideas. Postings should not be considered as medical advice. All users should consult with their healthcare professional for questions or medical decisions.

      Users must accept full responsibility for using the information on this site and agree that ACN, Latitudes.org, advisory staff or others associated with the site are not responsible or liable for any claim, loss, or damage resulting from its use. Please remember that we do not actively monitor all posted messages and cannot be responsible for the content within. We can also not guarantee that access to the site will be error-free or virus-free.

      Reproducing any document in whole or in part is prohibited unless prior written consent is obtained. Web pages may be shared when passed on with the URL.

      Information posted on the Forum is done so voluntarily and will be accessible to the public. The material posted may be used by ACN (without the identity of the user) for publications or educational purposes. No compensation will be provided for the use of this material.

      Note: ACN is providing this service with the expectation that users will abide by the guidelines provided. We reserve the right to monitor postings and remove or refuse inappropriate and questionable material, as well as remove dated postings at our discretion, for any reason.

      Privacy Policy

      When you register with the Forum, you need only give your email address, which is available only to the Adminstrators and will not be shared on the Forum site or with others in any format. Forum users will see only the user name you choose to provide.

      Our web server collects and saves default information logged by World Wide Web server software. Our logs contain the date and time, originating IP address and domain name (the unique address assigned to your internet service provider's computer that connects to the internet), object requested, and completion status of the request. We use these logs to help improve our service by evaluating the "traffic" to our site in terms of number of unique visitors, level of demand, most popular page requests, and types of errors.

      You have the option of enabling to save your username and password data when you are accessing interactive parts of our websites, to allow your web browser to "remember" who you are and assist you by "logging on" without you having to type your username and password repeatedly. This is known as a cookie and it can be enabled or disabled in your control panel. Cookies are small files stored on your computer's hard drive that are used to track personal information.

      Except for authorized legal investigations, we will not share any information we receive with any outside parties.

      Updated March 19, 2010
  • Help us learn if blood type has a correlation with PANDAS/PANS   78 members have voted

    1. 1. If you are the biological mother of a child diagnosed with PANDAS or PANS (or you believe the child has PANDAS or PANS), please select your blood type below:


      • O +
      • O -
      • A +
      • A -
      • B +
      • B -
      • AB +
      • AB -
      • I Don't Know

    Please sign in or register to vote in this poll. View topic
×