MTHFR positive!

[MichaelTampa]

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.

 

 

I would have thought that too. I took this 5MTHF for a while, but am off it. I use energetic testing that indicated it would be helpful and now that it would not be. Perhaps this is a sign of being in better health and having less to detox or less conversion needed. I have one copy of each of the two genes that are mainly tested. I have read these mutations impair certain pathways, slow things down or limit things, but do not absolutely mean they do not work at all. And of course having two copies of a particular mutation is going to be much worse than having just one copy of it. I think it was something like you work at 50-60% efficiency with one mutation of a gene, but 20-30% efficiency with two mutations of a gene.

[JAG10]

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.

 

 

I would have thought that too. I took this 5MTHF for a while, but am off it. I use energetic testing that indicated it would be helpful and now that it would not be. Perhaps this is a sign of being in better health and having less to detox or less conversion needed. I have one copy of each of the two genes that are mainly tested. I have read these mutations impair certain pathways, slow things down or limit things, but do not absolutely mean they do not work at all. And of course having two copies of a particular mutation is going to be much worse than having just one copy of it. I think it was something like you work at 50-60% efficiency with one mutation of a gene, but 20-30% efficiency with two mutations of a gene.

 

That's very interesting! Did you notice or feel any difference or were you following the results of the testing mainly? How many mg of the Thorne did you take when you were taking it?

[LNN]

Michael's right- having one mutation reduces your abilities by xx% and having two mutations reduces it even further. But it doesn't necessarily mean you can't convert any folate. I went back to edit my previous post - I had originally said it prevents your body from converting when the correct word is impairs. (good to have other people chiming in - thanks Michael).

 

How much you need is probably dependent on both your diet and your physical needs. If you eat tons of healthy foods and are in good health, you may not need any methylfolate supplement because even at 40% efficiency, you may still be able to meet your body's needs. But if you get sick, or you don't have a healthy diet to begin with, or if you have methylation blocks elsewhere that compound one inefficiency on top of another, supplementing may be a big help. And it probably depends on age as well.

 

I guess one way to get a picture is to measure plasma homocysteine. We've never measured that one. Don't you wish we didn't have to figure this out?

[mommakath]

I'll chime in behind LLM and say that my son is compund heterozygouse for MTHFR. Here's what's helped us with this issue: Deplin, Methyl B12 injections, scheduled to add in 5HTP, DMG, and magnesium with a little calcium, omega's, and good multivitamin. Source is important when dealing with a MTHFR kid - organic and pure - and we have gone gluten free and dairy free. I would advise finding a physician who specializes in this to help you out. Our son is also getting IVIG and on antibiotics. There are certain RX you should avoid with this mutation (Bactrim, Sulfate). The MTHFR is not the golden ticket that heals but IF THEY ARE MTHFR POSITIVE it is almost a golden ticket!! In our case, it's not been one thing that has been the answer, but a combination of things.......the Pandas, Lyme, and Functional medicine doc all working together. It can be an important piece of info and has really been a huge part of us getting better.

[tpotter]

I'll chime in behind LLM and say that my son is compund heterozygouse for MTHFR. Here's what's helped us with this issue: Deplin, Methyl B12 injections, scheduled to add in 5HTP, DMG, and magnesium with a little calcium, omega's, and good multivitamin. Source is important when dealing with a MTHFR kid - organic and pure - and we have gone gluten free and dairy free. I would advise finding a physician who specializes in this to help you out. Our son is also getting IVIG and on antibiotics. There are certain RX you should avoid with this mutation (Bactrim, Sulfate). The MTHFR is not the golden ticket that heals but IF THEY ARE MTHFR POSITIVE it is almost a golden ticket!! In our case, it's not been one thing that has been the answer, but a combination of things.......the Pandas, Lyme, and Functional medicine doc all working together. It can be an important piece of info and has really been a huge part of us getting better.

 

 

Why not bactrim or sulfate? DS16 has not been tested for MTHFR, but I plan to have him tested. He is taking bactrim

[LNN]

Yes, curious why you say no bactrim. My DD has only one MTHFR mutation - C677 - and did well on bactrim for 6 months. (and this is a kid who's allergic to many abx). Our LLMD said you need to avoid bactrim if you have issues with transsulfuration pathway but DD doesn't have this issue. Not clear to me why bactrim would be related to MTHFR?

 

Or are you saying this applies to those with the other mutation - the one that effects detox/betaine?

 

I'm really glad your son has responded so well! For us, the MTHFR info has been helpful but hasn't been anything close to a golden ticket. Our issues lay elsewhere. And my kids only do well with Omega 6s due to KPU. Omega 3s have a negative effect. It's turning out to be a very individual path for each of them.

Edited February 13, 2012 by LLM

[NancyD]

Just one word of caution re Deplin. Deplin has dye in it. You cannot get it dye free. Thorne's 5-MTHF is a good alternative and it comes in 10 mg capsules, dye free.

 

I'll chime in behind LLM and say that my son is compund heterozygouse for MTHFR. Here's what's helped us with this issue: Deplin, Methyl B12 injections, scheduled to add in 5HTP, DMG, and magnesium with a little calcium, omega's, and good multivitamin. Source is important when dealing with a MTHFR kid - organic and pure - and we have gone gluten free and dairy free. I would advise finding a physician who specializes in this to help you out. Our son is also getting IVIG and on antibiotics. There are certain RX you should avoid with this mutation (Bactrim, Sulfate). The MTHFR is not the golden ticket that heals but IF THEY ARE MTHFR POSITIVE it is almost a golden ticket!! In our case, it's not been one thing that has been the answer, but a combination of things.......the Pandas, Lyme, and Functional medicine doc all working together. It can be an important piece of info and has really been a huge part of us getting better.

[lss]

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.

 

 

 

LLM,

 

My son's low homocysteines levels were measured thru plasma. The first doctor recommended using a topical cream, Neuro-immune stabilizer which contains the following: Folinic acid, Hydroxcobalamin, methylcobalamin, pyridoxal 5 phosphate and natural vitamin d. The second doctor did muscle testing and then he recommended using the Thorne Methyl Guard. When I spoke with Dr. M. he said it might still balance things out. So I'm not really sure if any of this would actually help since my son's is low and not high.

 

Linda

[tpotter]

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.

 

 

 

LLM,

 

My son's low homocysteines levels were measured thru plasma. The first doctor recommended using a topical cream, Neuro-immune stabilizer which contains the following: Folinic acid, Hydroxcobalamin, methylcobalamin, pyridoxal 5 phosphate and natural vitamin d. The second doctor did muscle testing and then he recommended using the Thorne Methyl Guard. When I spoke with Dr. M. he said it might still balance things out. So I'm not really sure if any of this would actually help since my son's is low and not high.

 

Linda

 

 

I would think that if it was checked by muscle testing, it's probably what he needs. What do the rest of you think?