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MTHFR gene mutation, confirmation needed


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7 replies to this topic

#1 bocadillodelomo

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Posted 08 February 2010 - 02:41 AM


Is anyone here good with biochem and confirm what i just found?


http://www.veganhealth.org/b12/cycle
Here is a picture of the cycles in the body regarding b12 and folate. Now the MTHFR gene mutation causes the body to NOT be able to methylate the folate, which can lead to a variety of problems involving folate (DNA, RNA, cellular growth, nervous system issues, etc.) and of course b12 as it is involved in the pathway.

Assuming the absorption of b12 is unaffected (ex: atrophic gastritis, lack of intrinsic factor, etc.) and there is sufficient b12 and folate IN the blood... if you have a MTHFR mutation, based on the cycles above, you would have an accumulation of inactive folates in the blood (not being able to be methylated but constant intake from diet, etc) and also an accumulation of inactive cobalamin (and lack of methylcobalamin) because there is no methylfolate to donate its methyl group to methylate cobalamin. So, you will have a folate AND b12 deficiency. And also high serum folate and cobalamin levels.

Am i correct here? Any input?

#2 4eva

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Posted 08 February 2010 - 08:28 PM

Is anyone here good with biochem and confirm what i just found?


http://www.veganhealth.org/b12/cycle
Here is a picture of the cycles in the body regarding b12 and folate. Now the MTHFR gene mutation causes the body to NOT be able to methylate the folate, which can lead to a variety of problems involving folate (DNA, RNA, cellular growth, nervous system issues, etc.) and of course b12 as it is involved in the pathway.

Assuming the absorption of b12 is unaffected (ex: atrophic gastritis, lack of intrinsic factor, etc.) and there is sufficient b12 and folate IN the blood... if you have a MTHFR mutation, based on the cycles above, you would have an accumulation of inactive folates in the blood (not being able to be methylated but constant intake from diet, etc) and also an accumulation of inactive cobalamin (and lack of methylcobalamin) because there is no methylfolate to donate its methyl group to methylate cobalamin. So, you will have a folate AND b12 deficiency. And also high serum folate and cobalamin levels.

Am i correct here? Any input?


You seem to have a good understanding of this SNP. The only thing I would add or change is that I think a B12 deficiency is why folate gets trapped. I think folate may not get trapped if B12 levels are adequate, but I'm not 100% sure. This is what I've read and assume it is correct but haven't thought it through enough to contest it.

But I'm not all that sure what exactly you are asking though you seem to be mainly correct in your take on MTHFr SNP.

Edited by 4eva, 08 February 2010 - 08:29 PM.


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#3 lynx

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Posted 10 February 2010 - 03:13 PM

Your understanding is correct, B12 will not ameliorate a MTHFR SNP. Take active folate as in L-methylfolate(5-MTHF) from LEF.

#4 ihatesnow

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Posted 11 February 2010 - 02:27 AM

Is anyone here good with biochem and confirm what i just found?


http://www.veganhealth.org/b12/cycle
Here is a picture of the cycles in the body regarding b12 and folate. Now the MTHFR gene mutation causes the body to NOT be able to methylate the folate, which can lead to a variety of problems involving folate (DNA, RNA, cellular growth, nervous system issues, etc.) and of course b12 as it is involved in the pathway.

Assuming the absorption of b12 is unaffected (ex: atrophic gastritis, lack of intrinsic factor, etc.) and there is sufficient b12 and folate IN the blood... if you have a MTHFR mutation, based on the cycles above, you would have an accumulation of inactive folates in the blood (not being able to be methylated but constant intake from diet, etc) and also an accumulation of inactive cobalamin (and lack of methylcobalamin) because there is no methylfolate to donate its methyl group to methylate cobalamin. So, you will have a folate AND b12 deficiency. And also high serum folate and cobalamin levels.

Am i correct here? Any input?



check out this research group and post on their message board http://boinc.bakerlab.org/rosetta/

#5 ajnast4r

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Posted 11 February 2010 - 07:12 PM

anyone know where you can get MTHFR polymorphism testing?

#6 nameless

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Posted 11 February 2010 - 07:49 PM

anyone know where you can get MTHFR polymorphism testing?

Is this the same thing?

http://www.mayomedic.../Overview/81648

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#7 ajnast4r

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Posted 11 February 2010 - 08:07 PM

yes, but im looking for saliva swab test not blood... something at home.

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#8 stephen_b

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Posted 17 February 2010 - 07:21 PM

I got mine through 23andme with the full package.




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