44 replies to this topic

[maxwatt]

There is a yahoo group for MTHFR discussion. It has some science and much pseudo-science and urban legends, not to mention Internet Somatization Disorder

.

But they do have some FAQs and protocol suggestions for different genetic combinations that can be helpful.

I found I have some methylation issues where their recommendations are borne out by my experience: methyl-B12 makes me so sleepy I needed three naps a day. Returned to normal when I switched to hydroxy-B12. I can tolerate the amount of methylfolate I need, but not with added methyl-B12.

http://health.groups...HFRdiscussions/

One thing I wonder about: unmetabolized folic acid is carcinogenic, and those with the MTHFR polymorphism, especially the 10% or so who are homozygous, will have a lot of folic acid from fortified foods -- all cereals, bread, flour.
The FDA requires folic acid fortification as it prevents spina bifida in pregnancy, but maybe they should change the form they require.

Even those who are heterozygous like prophets and 40% of the population, likely still have an excess of cancer-causing unmetabolized folic acid. (heterozygous -> 60% efficiency, homozygous 30% efficiency at conversion compared to the wild-type SNP.)

[golden1]

I had deplin prescribed, doubt I have a need for it though because all it did was make me after a couple days feel like I was restless, as in I had uncomfortable energy that I couldnt make use of that was just distracting and uncomfortable.

How did you have it prescribed? Did you go to a psychiatrist?

they offered it when I went to a psychiatrist to taper off benzodiazepines. it was 15mg/pill. no dose was helpful for me.(half, 1/4, 1/8 etc) just side effects.

[tunt01]

Even those who are heterozygous like prophets and 40% of the population, likely still have an excess of cancer-causing unmetabolized folic acid. (heterozygous -> 60% efficiency, homozygous 30% efficiency at conversion compared to the wild-type SNP.)

I agree. He has effectively adopted my diet (pescetarian/high vegetables), but still pigs out on pizza and junk food now and then, thus still probably accumulating that unmetabolized folic acid.

The aspect of his genetic genie output that bothers me the most is that CBS C699T mutation along with the BHMT-02 and BHMT-04 homozygous mutations. According to Dr. Yasko it's a major issue (upregulated CBS pathway, higher ammonia, lower glutathione, etc.). I'm not sure what to make of it quite yet.

[maxwatt]

Folic acid: Actually not unmetabolized but slowly metabolized. This SNP implies 30 or 60 percent efficiency of conversion. This means to me that one need not eliminate it, merely reduce it to sufficiently low levels.

[hani]

Folic acid: Actually not unmetabolized but slowly metabolized. This SNP implies 30 or 60 percent efficiency of conversion. This means to me that one need not eliminate it, merely reduce it to sufficiently low levels.

But don't people having such a mutation technically require more folic acid then the average person? Because they're less efficient at conversion.

[maxwatt]

The conversion being rate limited, yes with this SNP one needs the post enzymatic conversion form to achieve a healthy steady-state level. But some amount of Folic acid should be tolerable, Just not too much.

[cylack]

Genetic Genie is pretty awesome. I found this great site that helped me interpret the results. According to the doctor, even though I'm heterozygous for the MTHFR A1298C mutation, I should still supplement with methyl donors since I'm also VDR Taq homozygous. Anyways, here is the link:

http://www.heartfixe...trigenomics.htm

[therein]

Genetic Genie is awesome but I am lost. It looks like my genome is pretty fucked up. I am reasonably informed about these things but I can't figure out what I need to take to counter these polymorphisms. Would you mind helping, cylack?

[cylack]

Hey therein, I just found out about Genetic Genie yesterday. The report you get back from the site does a decent job explaining, but I REALLY recommend you read that linked site I posted earlier. The person who wrote it is an M.D. and he goes into detail exactly what the polymorphisms mean and he gives detailed recommendations on supplements to take. Have a printout of your Genetic Genie report in front of you and read what he says carefully.

[therein]

Hey therein, I just found out about Genetic Genie yesterday. The report you get back from the site does a decent job explaining, but I REALLY recommend you read that linked site I posted earlier. The person who wrote it is an M.D. and he goes into detail exactly what the polymorphisms mean and he gives detailed recommendations on supplements to take. Have a printout of your Genetic Genie report in front of you and read what he says carefully.

I have been doing just that, however, it is still unclear what I should be taking. Maybe my output (deficiencies) is more complicated than yours? I also looked at the link you posted as well. I have so many anomalies in the COMT path that it is hard to figure out what should happen. I have some polymorphisms that should counter each other... to which extent, who knows...

[therein]

Hey therein, I just found out about Genetic Genie yesterday. The report you get back from the site does a decent job explaining, but I REALLY recommend you read that linked site I posted earlier. The person who wrote it is an M.D. and he goes into detail exactly what the polymorphisms mean and he gives detailed recommendations on supplements to take. Have a printout of your Genetic Genie report in front of you and read what he says carefully.

Also the notation that website uses doesn't make much sense to me. What do the mean by (+/+) or (+/-) etc.?

There is either a single nucleotide mutation or not.

[maxwatt]

You have a pair of each chromosome and ++ indicates both of pair have the SNP (homozygous), whilst +-indicates one has the mutation, the other doesn't (heterozygous).

[therein]

You have a pair of each chromosome and ++ indicates both of pair have the SNP (homozygous), whilst +-indicates one has the mutation, the other doesn't (heterozygous).

Thanks, that makes sense. Now I need to figure out which deficiency trumps the other one.

I have 62 mutations, most of them being in COMT and BHMT.
SLC6A4 is also very interesting, seems like I am pretty deficient there as well.

It also looks like I am terrible at converting beta-carotene into Vitamin A. Like really, really, really terrible. I have over 5 mutations that indicate I should be deficient in Vitamin A.

Edited by therein, 03 January 2014 - 08:18 PM.

[dunbar]

Isn't metafolin only for women?
I heard that only women have this issue of not being able to use folic acid. Is this not true?

[maxwatt]

Isn't metafolin only for women?
I heard that only women have this issue of not being able to use folic acid. Is this not true?

AS you might have guessed reading this forum, men also have the problem.

Folic acid is added to many foods - bread, enriched flour, rice - because it was noted half a century ago that children of women who did not get enough folate during pregnancy were more likely to have various birth defects, among them Spina Bifuda. But unlike the folate in fresh vegetables, half the population has difficulty converting folic acid to folate. That it may build up to toxic levels in those unfortunates unable to metabolie it, is claimed by some health practitioners.

I suspect many people who say the are gluten-sensitive, despite not having the specific genes associated with this condition, actually have a problem with the folic acid routinely added to cereals, grains and bread.