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Mehtylation for Dummies


LNN

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Methylation Diagram

 

Ok, this is very rough and my explanation may not be perfectly correct in the true medical sense, but I took the diagram Yasko and others use and added some comments in red.

 

My comments are aimed at the C677T mutation of the MTHFR gene. I don't have as much knowledge on how the A1298 mutation effects everything, because no one in my family carries it and also because there's way less written about it. But I wanted to try to explain why knowing if you have a MTHFR gene mutation matters to a Pandas or lyme kid. (it also matters to people with a family history of heart disease, stroke, macular degeneration or history of miscarriages, but I'm not getting into all that).

 

The thing that effects our kids the most are neuropsych and detox issues. Our kids tend to have problems with seratonin and/or dopamine, both of which are shown on the circle I numbered #3. You can see that the MTHFR gene plays a role in how your body synthesizes tryptophan into seratonin and tyrosine into dopamine.

 

On the far right circle, where I have #1, you see how MTHFR plays a role. MTHFR is what makes folate (the inactive form of B9) into methylfolate (the bioavailable/active form). At the point in the circle where you see homocysteine, your body uses methylfolate and methylB12 to recycle homocysteine into SAMe, which in turn gets turned into seratonin (it also does other things but seratonin is the part I'm highlighting).

 

If B6 (the active form is P-5-P) is present, MTHFR also influences how much homocysteine gets converted into cycsteine, which then gets synthesized into glutathione (among other things). Glutathione is the master detox agent.

 

You'll also see (at the bottom of the circle on the right) sulfite. This is where the transsulfuration pathway starts. It too plays a role in detox. But I don't know enough to speak about it intelligently. I mention it as a starting point for your own research if you struggle with sulfa drugs like bactrim.

 

There are many other genes - some known and studied, some not - some you can test for commercially, some not - that influence these circles. MTHFR is not the be all and end all for helping your kid to stop being crazy. But this illustrates why some of us have found good results when we supplement with methylfolate and/or methylB12. Since MTHFR converts folate into methylfolate, if you have one mutation on C677 (heterozygous), your body only does this conversion at about 40-60% efficiency. If you have two mutations of C677 (homozygous), you only do this conversion at about 10% efficiency. So you can see where you'd have trouble making enough seratonin and/or dopamine. You might also struggle to make enough glutathione, which becomes in high demand during periods of infection, mold illness or other stressor on the immune and detox systems.

 

An SSRI (which can help some kids) only makes your existing seratonin last longer in the synapse between your neurons. Bypassing a faulty MTHFR gene by supplementing with already-converted methylfolate helps your body create more seratonin to begin with. Be aware that if you're using an SSRI or supplementing with tryptophan or maybe even melatonin, you may need to reduce or eliminate these other things as time goes on. I learned that the hard way this summer. I didn't reduce tryptophan and was giving too much methylfolate and ended up with a crazed, evil, bipolar child.

 

Treating MTHFR is like being the little Dutch boy and plugging one hole in the dike. If it's your only leak, it can work wonders for getting the cycles working properly again. if you have other leaks (other gene mutations) than other steps might also be needed.

 

Hope this helps.

Edited by LLM
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Methylation Diagram

 

Ok, this is very rough and my explanation may not be perfectly correct in the true medical sense, but I took the diagram Yasko and others use and added some comments in red.

 

My comments are aimed at the C677T mutation of the MTHFR gene. I don't have as much knowledge on how the A1298 mutation effects everything, because no one in my family carries it and also because there's way less written about it. But I wanted to try to explain why knowing if you have a MTHFR gene mutation matters to a Pandas or lyme kid. (it also matters to people with a family history of heart disease, stroke, macular degeneration or history of miscarriages, but I'm not getting into all that).

 

The thing that effects our kids the most are neuropsych and detox issues. Our kids tend to have problems with seratonin and/or dopamine, both of which are shown on the circle I numbered #3. You can see that the MTHFR gene plays a role in how your body synthesizes tryptophan into seratonin and tyrosine into dopamine.

 

On the far right circle, where I have #1, you see how MTHFR plays a role. MTHFR is what makes folate (the inactive form of B9) into methylfolate (the bioavailable/active form). At the point in the circle where you see homocysteine, your body uses methylfolate and methylB12 to recycle homocysteine into SAMe, which in turn gets turned into seratonin (it also does other things but seratonin is the part I'm highlighting).

 

If B6 (the active form is P-5-P) is present, MTHFR also influences how much homocysteine gets converted into cycsteine, which then gets synthesized into glutathione (among other things). Glutathione is the master detox agent.

 

You'll also see (at the bottom of the circle on the right) sulfite. This is where the transsulfuration pathway starts. It too plays a role in detox. But I don't know enough to speak about it intelligently. I mention it as a starting point for your own research if you struggle with sulfa drugs like bactrim.

 

There are many other genes - some known and studied, some not - some you can test for commercially, some not - that influence these circles. MTHFR is not the be all and end all for helping your kid to stop being crazy. But this illustrates why some of us have found good results when we supplement with methylfolate and/or methylB12. Since MTHFR converts folate into methylfolate, if you have one mutation on C677 (heterozygous), your body only does this conversion at about 40-60% efficiency. If you have two mutations of C677 (homozygous), you only do this conversion at about 10% efficiency. So you can see where you'd have trouble making enough seratonin and/or dopamine. You might also struggle to make enough glutathione, which becomes in high demand during periods of infection, mold illness or other stressor on the immune and detox systems.

 

An SSRI (which can help some kids) only makes your existing seratonin last longer in the synapse between your neurons. Bypassing a faulty MTHFR gene by supplementing with already-converted methylfolate helps your body create more seratonin to begin with. Be aware that if you're using an SSRI or supplementing with tryptophan or maybe even melatonin, you may need to reduce or eliminate these other things as time goes on. I learned that the hard way this summer. I didn't reduce tryptophan and was giving too much methylfolate and ended up with a crazed, evil, bipolar child.

 

Treating MTHFR is like being the little Dutch boy and plugging one hole in the dike. If it's your only leak, it can work wonders for getting the cycles working properly again. if you have other leaks (other gene mutations) than other steps might also be needed.

 

Hope this helps.

 

Thanks, this is such timely info, I struggle to grasp all this as my lyme brain is fuzzy at times. My son is heterozygous for both A1289 and the C66 I always wonder what the ideal amount of active form of folate is recommended. My Dr seems to think 1000 mcg is ideal. I would think if you have a compound C66 you would need more "help" methylating? How far into the rabbit hole of gene defects must one go? meaning how much more gene testing should we do?

Edited by socalmom
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I need to do some serious researching on methylation and MTHFR. My DD5 doesn't have the mutation, but my DS3 is positive. Homozygote for C677T. LLM, I would love any links that you may have in regards to this :)

Here are the links I've bookmarked for myself...

http://www.renewashoe.com/medical/

 

http://www.mthfr.net

 

http://forums.phoenixrising.me/index.php?threads/documents-by-rich-van-konynenburg-parts-1-7.11488/

 

http://www.enzymestuff.com/methylation.htm

 

http://www.knowyourgenetics.com/The%20Methylation%20Pathway.html

 

http://www.autismone.org/content/dr-amy-yasko-presents-assessment-metals-and-microbes-function-nutrigenomic-profiling-part-1-

Edited by LLM
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Thnak you LLM! I replied on the pandas board, where you also shared this. But wanted to also note something I read last night in Singetons "The Lyme Disease Cure" that NK cells NEED glutithione. I know alot of Lyme docs have this measured as part of an initial work up. If your child's NK cells or CD57 is low - or close to low - you may want to try to enhance glutithione and or investigate mutations that may be hindering glutithione.

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