Pernicious Anaemia Society

Has anyone tried the gene test to help with b12/folate/MTHFR issues please, just been sent an offer!

Hi,

I've recently had a homocysteine home test of which the results suggest taking supplements as its just over-range. I'm wondering now if I need to investigate further with the MTHFR gene test, but also noticed there's a couple of b12 genes tested on it too? I have injections, but still have health problems and wondering if folate could be an issue. Its lower range, but I usually feel more ill when taking it (never really know if its a coincidence or not) and am thinking this test may help to see if we have issues with methylation?

Just wondering if anyone has taken this test and found it beneficial please?

Many thanks

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There is just one MTHFR mutation that has been shown in repeatable studies to have any possibility of adverse effects and that's being homozygous for the C677>T mutation, which I happen to have along with about 9% of the population.

This mutation decreases the efficiency with which the body produces methylfolate by about 80%. Most people can get round this by making more of the enzyme. Others may benefit by taking methylfolate supplements.

For over a year I've been taking 400 ug of methylfolate a day. But for the last month or so I've switched to folic acid, 200 ug a day. And I can't tell any difference at all.

As for B12 genes, I'm not aware of any mutations associated with B12 problems in adult life. There are some that are very nasty if you're homozygous for them, but they tend to show in infancy and tend to be fatal.

Do you know which genes the B12 ones are?

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table 1 in this articles lists a number of genes involved in processing of B12 - though it doesn't give details of variants that may be associated with them and problems they may cause

researchgate.net/publicatio...

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The reason it doesn't have any details is because nobody has determined which, if any, mutations have any effect on the enzyme function.

Many mutations don't actually affect the functioning of the enzyme it codes for. They may be mutations on the gene that codes for a part of the protein not in the active site, or that's not important for the secondary structure.

Indeed, the genetic code has redundancies built-in so that some mutations in the gene don't actually change the amino acid that gets produced.

There are very few genetic mutations that are known to cause medical problems. Probably the most famous are the BRCA 1 and 2 genes (the Angeleina Jolie gene), where certain mutations greatly increase the chances of breast cancer. That is a very big effect and we've only recently become aware of it. Mutations that have a slight effect on just a small number of people will require huge studies to find them.

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Thans fbirder (just replied to your other) thought I'd put the gene on here for others to read, the b12 gene mentioned is TCN2, theres also one mentioned for Vit d VDR.

So I guess youre saying that just because you have a gene mutation it doesn't necessarily always affect you, but chances are if your general health is compromised then it is potentially more likely?

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none of the variants seems particularly common but there do appear to be specific variations that have been identified as causing problems

ghr.nlm.nih.gov/gene/CUBN#c...

ghr.nlm.nih.gov/gene/AMN#co...

ghr.nlm.nih.gov/gene/MMAA#c...

ghr.nlm.nih.gov/gene/MMAB#c...

ghr.nlm.nih.gov/gene/MMADHC...

ghr.nlm.nih.gov/gene/MMACHC...

ghr.nlm.nih.gov/gene/MTRR#c...

It looks like a number of these would probably have caused problems earlier in life.

And I suspect reality is that they wouldn't necessarily be included in the B12 screen.

It wasn't within the scope of the article to specifically list variants.

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I have three mutations in the TCN2 gene. At least 80% of the population will have one, or more, of those mutations. So I doubt they do anything too serious.

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I didn't say that all variants cause problems just wanted to point out that there are some that do and have been identified - almost all of the variants mentioned above identified as causing problems would seem to be quite rare variants.

However, I'd be surprised if the detail in the test subject to special offer really went to the level that would identify specific variants involved in the problems with protein synthesis.

None of the links above is actually about the TCN2 gene.

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Sorry, was replying to jo5454 about the TCN2.

Of the ones listed above I have only been tested for two. I have two mutations in MMAB and four in MTRR.

If I were to put that info together with that listed above then I'd be surprised I'm still alive.

I still don't believe that genetic testing for anything to do with B12 or folate can provide anything of concrete use.

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thanks for clarifying - get the impression that there are generally large numbers of variants on specific genes and whilst some of them may do things most obviously don't have a significant impact. Many may only be triggered by specific environmental factors and I would suspect that a large number would actually have beneficial rather than detrimental effects.

Genetics in relation to many auto-immune disorders seems to be no-where near as advanced as some might like to claim. For thyroid most of it still seems to be at the level of 'runs in families'. Given the number of genetic variants and the fact that most need environmental triggers I have my doubts that we will ever get to the point where it is possible to read someones future medical history just by looking at their gene profile.

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Thanks Gambit! Will have a read...

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Hi, going back to the "just over range" in Homocysteine - please be aware that under 7 is optimal. A B complex will bring it down and I understand, TMG if high. B12, B2, B6 and B9 are needed hence why i say complex B Vitamin. Zinc and magnesium also. The choline in eggs help to break it down to cysteine. Good fats - people don't eat enough.

I did the 23andme testing - the cheapest way and you get the most information - although you do have to get the raw data and run it through other sites. I'd start with Strategene personally.

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Thank you Bluedragon, that's useful to know that under 7 is optimal. My result was 11, with Optimal range being 0-10, so will aim to get it much lower. have had a prob with migraine/flashing lights episode coming on in the night just after the last b12 injection, so haven't had a chance to google much on here about treatments for the homocysteine, but I saw on the symptoms list that migraines are associated with higher homocysteine levels, so that may explain it. I eat lots of eggs, never have believed they are bad for you:) so that's good to know! Have been given some example vitamin combinations from Yorktest, but they all have different combinations and amounts?

Yes, I presumed Id use the 23and me test, just happened to be sent an offer on the Blue Horizon one this weekend which mentions a B12 gene too and it looked easy to interpret, but not sure what to do...

Thanks again.

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Mine came down pretty quickly from 13 just with a B complex (I used methylated) and B12 injections. I think I may have been taking magnesium at the time too.

I took the information from my lecture notes - I'm studying to be a naturopath and Herbalist. That's what I chose to do after not trusting doctors for chronic conditions anymore.....

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Recently being tested for the MTHFR gene has really impacted my health and changed my life in a positive way. I am homozygous for C677T. I was diagnosed with PA in 2008 and self-inject monthly but never felt great still. My folate serum test was always in the normal range. Since the test, I've been taking methylfolate and my homocysteine level is finally coming down, and I have less inflammation. This has definitely been the missing piece of the puzzle, and I am very excited to be feeling even better. It isn't uncommon to feel worse on methylfolate at first. You should never take folic acid if you have a variant in this gene. There is a lot of bad advice on this site so do your own medical research.

draxe.com/mthfr-mutation/

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im not sure I'd place too much stock in what that website says. There are quite a few errors, even on a quick glance.

There is no reason whatsoever why people shouldn't take folic acid if they have any MTHFR mutation. By the time MTHFR is involved the folic acid has already been transformed to dihydrofolate, tetrahydrofolate and methylenetetrahydrofolate. All three of these are part of the normal folate cycle.

I am homozygous for C677>T. I took methylfolate for over 12 months. About 6 weeks ago I switched to folic acid, just to see if there was any difference. None.

I shall switch back to methylfolate when the folic acid runs out as some real research suggests there may be some slight long-term effects. And it can't hurt to take methylfolate.

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Thank you for this, brilliant that you've found another missing piece to your puzzle and are feeling better. Did you use 23 and me?

Yes, my folate just into the normal range too, Dr has said folate/homocysteine couldn't possibly be a problem refused the homocysteine and MMA tests in the past, but then he said that about b12 too so its good to have the results in my hands.

Keep on with the better health!

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mthfrsupport.com.au/folic-a...

mthfr.net/absolutely-no-fol...

As it seems to be debated why take folic acid if it's in question?

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Thank you muffinbubbapea...

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Taking folic acid is not in question.

Clickbait websites are not scientific sources.

Here's the real truth about methylfolate from a real professor, not some med-school dropout like Ben Lynch.

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Thanks for posting. This is really helpful to add to everything I've read. My children and I seem to be in the 1% that may benefit from methylfolate vs. folic acid as we deal with depression too. It makes me feel much better about our choice to use methylfolate.

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Yup. Try it and see is much cheaper than genetic testing and will give you a much more reliable answer.

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