MTHFR C677T diagnosis Query! - Pernicious Anaemi...

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MTHFR C677T diagnosis Query!

Sparkle44 profile image
12 Replies

Hi does anyone know what MTHFR C677T - non homozygous - carrier status only means???

I had the test at the Adult Metabolic Clinic due to high Homocysteine & low folate and Vitamins (below normal range).

I received the clinic letter before speaking to the consultant.

Thanks in advance!

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Sparkle44
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Gambit62 profile image
Gambit62Administrator

The MTHFR gene controls the MTHFR process in cells. It is one of the steps in the process that regulates homocysteine and variants affect how efficiently this process runs. The variant you have is a very common one and on its own doesn't have much impact at all. You only have one copy of the variant (heterozygous rather than homozygous). It impacts on the processing of methyfolate needed for the process to run smoothly. Saying carrier status only is a way of saying it doesn't have any material impact on you but it might affect a child if they inherit it and another copy from the your partner it would have more of an impact but even then it's not a life threatening state, just a greater susceptibility to developing elevated homocysteine levels.

Sparkle44 profile image
Sparkle44 in reply toGambit62

Thank you so much for your response which is helpful. So could this be causing my issues? High homocysteine / abnormally low levels of folate and vitamins or is that likely to be something else?

Gambit62 profile image
Gambit62Administrator in reply toSparkle44

more likely the low folate is causing the the high homocysteine level and having that particular variant has made you marginally more susceptible to that.

If your diet is good then you probably have an absorption problem - though looking at your profile that looks quite likely anyway. If you have a folate absorption problem the chances are that you also have a B12 absorption problem as well ... and if you have a diagnosed B12 absorption problem then that does affect other micronutrients, folate and iron being the most common.

Sparkle44 profile image
Sparkle44 in reply toGambit62

Thanks so much! I am being seen by gastroenterology in April. Strangely my B12 is in the normal range. I eat mostly a veg diet with fish, so I suspect it’s a malabsorption issue too. Thanks again x

fbirder profile image
fbirder

It means that you are similar to over 50% of the population who have a C677T mutation in the MTHFR gene.

bookish profile image
bookish

Hi, you really can't look at genetic SNPs in isolation. A test will only give you a theoretical view - some SNPs are beneficial, some neutral and some possibly may affect your health negatively to some extent. Hetero MTHFR is common, I have it too, but I also have SNPs on MAO and COMT (homo) which (theoretically) affect the balance of the overall picture more for me. Even looking at multiple SNPs, the SNPs need to have 'expressed' and many never will, which is why you never 'treat' a SNP but use it as one bit of information to help you and your doctors look at what is actually affecting your health. I gained useful pointers from my testing but can see from my symptoms changing over time that none of this is set in stone. You can still have a problem with a pathway without having a SNP and can have a SNP and never have a problem. No single SNP is likely to be 'causing' a single health issue. There are too many other contributing factors. I hope that makes sense. I tested actual function (including methylation) as well, found it was rather poor, and have personally found changing to a small, divided dose of methylfolate has made really noticeable improvements. I see that it was suggested to you a year or so ago, so wonder if you ever tried it? I use Metabolics liquid, but there will be plenty of good ones available. I also got considerable benefit from diet changes improving my absorption ability. I hope the consultant will have some suggestions for you. Best wishes

Sparkle44 profile image
Sparkle44 in reply tobookish

Thank you so much for your response it is very helpful. I was put on Folic Acid, Vit D and Ferrous Sulfate. No real difference. My consultant appointment is on the 13-04-2021 but going to ask my GP next week what she knows 🤗

bookish profile image
bookish in reply toSparkle44

My pleasure. Vitamin D took a bit of time but well worth getting to a reasonable level - I use Nature's Answer drops and test from time to time. Your GP may well not know and certainly may be quite reasonably dismissive so I wouldn't suggest walking in and saying MTHFR is your problem (I'm sure you weren't going to!) but slightly reduced methylation may be playing a part in which case methylfolate could give it a helping hand. Keep us posted x

Sparkle44 profile image
Sparkle44 in reply tobookish

Brilliant thanks! I probably would have said MTHFR is the problem 🙈 good advice thanks! Will defo keep you posted. I see the GP on Thursday evening x

fbirder profile image
fbirder in reply toSparkle44

Please don't say that reduced methylation is your problem. Your doctor will immediately classify you in a way you don't want to be classified.

It's all a scam started up by a med-school dropout who has made a pile of cash by selling people supplements they don't need, books that are scientific garbage and websites that are adverts for more of the same. seleneriverpress.com/the-mt...

A very few people who are homozygous for the C677T mutation in the MTHFR gene may benefit from paying extra for methylfolate instead of folic acid. To see if you're one of them just take 400 mcg of methylfolate every day for a month, then switch back to folic acid. See if there is any difference.

Sparkle44 profile image
Sparkle44 in reply tofbirder

Thanks for your response. Much appreciated!

fbirder profile image
fbirder

Here is what 23andMe, one of the biggest testing companies, say about it...

blog.23andme.com/health-tra...

Based on the existing data, scientists at 23andMe have concluded that people should not interpret their genotypes at the common MTHFR variants as having an effect on their health.

In order for a connection between a genetic variant and a health condition to be considered real and clinically meaningful, well-run scientific studies need to show convincing and consistent evidence for that association. As statements from multiple scientific and medical organizations indicate, that is currently not the case for the common MTHFR variants.

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