MTHFR testing

[EchoWS]

I was wondering how one would test for MTHFR mutation. I'm in England and would like to know about the mutation to gauge how much to supplement.

Thank you!

[Technoid]

I wouldn't waste your money. In the vast majority of cases the difference in folate requirement is minor and if you had one of the much rarer and more serious combinations of gene variants, elevated homocysteine would likely indicate it (remaining high) even if B12 was being provided at effective doses/frequency. If your diet is folate-insufficient (and/or there are absorption or food intolerances) up to 400mcg is a useful and safe supplementary dosage. Testing folate is generally going to be much more useful (and cheaper) than going the genetic testing route.

Here are three good articles on MTHFR:

Short Story : cdc.gov/ncbddd/folicacid/mt...

Longer Story: skepticalraptor.com/skeptic...

Background Story : undark.org/2021/01/04/the-f...

[Technoid in reply to Technoid]

The undark story contains one statement I do take issue with:

"Folate supplements are essential, experts say, because it’s nearly impossible to get the amount known to prevent the birth defects by eating folate-rich foods alone. "

This should read "because its nearly impossible to get the amount known to prevent birth defects while eating the standard american diet" 🤣

If you eat whole food plant based, a typical day (for me) is just over 1mg (1000mcg) of folate. The word folate comes from the latin for "leaf" 😁 The RDA for folate during pregnancy is 600mcg according to US NIH figures.

To be clear, I'm not advising that women of child-bearing age do not need to take folic acid! I'm not a doctor and those are clear guidelines! But clearly that recommendation exists because most people eat a folate-poor diet, not because its tremendously difficult to hit the folate RDA, but rather because many people eat folate-poor diets which because of their composition, make it "almost impossible" for them to reach that figure.

[EchoWS in reply to Technoid]

Thank you the links are interesting and it is good to have it clarified that folic acid is effective and important to supplement if of reproductive age.

[Cobalt1312 in reply to Technoid]

Well said, what a 'sad day' we are living in nutritionally - despite our incredible improvements in agriculture

[EchoWS in reply to Technoid]

This article peaked my interest -

medscape.com/viewarticle/99...

[Technoid in reply to EchoWS]

It is interesting but worth bearing in mind the study described was funded by Alfasigma, the manufacturers of Deplin, a prescription form of L-Methylfolate. Independent research that confirms their findings would be helpful.

deplin.com/what-is-deplin

alfasigma.com/our-company/a...

[topazrat]

I did an in depth DNA test a few years back, just out of curiosity, and it showed the MTHFR mutation in the results. (I don't carry the gene) The whole test cost £150, but it shows a heck of a lot of stuff and is updated for life as more things are found.

[EchoWS in reply to topazrat]

How interesting, I guess I showed first do a blood test to see how I'm doing these days. I'm HLA B27+ which has been useful to know.

[indywindy]

23andme test, and then run the test through eg free test on eg Genetic Genie to get a overview of MTHFR snps plus more snps that could be "dirty" or whose pathways could be challenged.I have read though, that the new 23andMe test doesnt reveal as much as the old type. I did mine in 2015 which was the extended version, sorry. I am not sure if AncestryDNA has a better option, but if you look up groups on FB they will be able to guide you.

[cam1001]

Hi, I live in the UK and went to 'Blue Horizon Medicals' to do a private test. They told me I have 2 copies of the gene mutation and would need to take high dose 5mg folic acid daily to prevent raised homocysteine levels. Hope this helps.

[MrsTuft in reply to cam1001]

did you actually have raised homocysteine?

[cam1001 in reply to MrsTuft]

Yes I did, but I have yet to test again to check my levels now.

[Technoid in reply to cam1001]

cam1001 they have given you poor advice, unless you have a folate deficiency. I would recommend you read some of the links I posted above. It is by no means uncommon to have some variety of MTHFR gene variants.

If you are folate deficient then 5mg folic acid is a reasonable dose to quickly bring folate up. But beyond that immediate correction , unless you have an extremely rare combination of gene variants you will not need such a dose long term. If you cannot bring enough folates into your diet or have absorption issues then supplementation of 400mcg may be useful to maintain levels, but you should test folate and homocysteine to see whether you need this.

The reason that most doctors and experts in MTHFR do not recommend testing for MTHFR variants is that the important markers - folate and homocysteine, are much easier and cheaper to test and they tell you the consequentional information about whether you need to increase folates or not.

If you have MTHFR 677 TT (two copies of T, one copy from each parent), according the CDC, these individuals "have an average blood folate concentration (amount of folate in their blood) that is only slightly lower (about 16% lower) than people with the MTHFR 677 CC genotype."

Getting 16% more folates in your diet is just incredibly trivial, as I mention above if you eat mostly plant foods, you can get over 1mg of folate, more than double the RDA. If you dont like wholegrains,veggies and legumes or you have absorption or food tolerance issues, you can supplement safely up to 400mcg, or up to 1mg if levels are persistently low despite efforts to correct. But 5mg is 5 times the tolerable upper limit and there is no good reason to take such an amount unless you need it.

[Cherwin in reply to Technoid]

Is it safe to continue taking folate 400mcg long term without testing? My husband was on methotrexate and synthetic folic acid for 12 years he has stopped taking them now and is supplementing with lmethylfolate as his memory is bad.

[Technoid in reply to Cherwin]

Yes it is safe. This supplemental dose is often recommended for all women of child-bearing age.

[Dandelions]

I did mine via Ancestry DNA. You can also use 23andme. You can look up which genes they test on their websites. They differ slightly. So make sure whichever one you chose checks for the genes you’re interested in. It looked to me like ancestrydna checks for slightly more b12 related genes.

They often run a discount and I paid around £100.

You spit in a tube and have to send it back to California.

When you get the results back, you need to upload them to another service to read the medical details. I used genetic life hacks which is £10 per month and I cancelled after one month.

They’ll give you an overwhelming amount if info which is very interesting, but also overwhelming. It doesn’t give you any advice on how much to supplement. The most it can say is ‘ as a carrier of such and such gen, you’re more likely to have trouble absorbing B12’ or statements along those lines.

[GoneWithTheWind1972]

Hi,

I have recently tested positive to MTHFR gene mutation. I’m in Australia and found a testing company through searching online in Australia. I’m sure if you searched MTHFR UK something would show up. I’ve added certain supplements to assist with my Methylcobalamin B12 absorption especially, Methylfolate. I’m only new to understanding the full range of MTHFR gene mutation complications so, with the support from the MTHFR foundation in Australia I’m adding various other supplements to my routine. Since I have added these supplements (only three months ago) my full blood count results have finally come into normal range for the first time since I was diagnosed with Pernicious Anaemia which was six years ago. My serum B12 for the first time is about 1400 and since August 2022 I started self injecting Methylcobalamin B12 daily and waited for three months before checking my complete blood count but, still NOT in normal range. I couldn’t understand why this was happening. Fast forward to February 2023, I stumbled upon MTHFR gene mutation and began researching, found a company in Sydney Australia and decided to buy the test. Whilst waiting for the results, I began ordering the various supplements and hoped for the best. Then I tested positive for this mutation, I subscribed to the foundation and have begun watching webinars to further understand as much as I can about this gene mutation. I firmly believe in learning as much about this so it can hopefully help with my PA and Crohn’s disease and try and get control over my health once and for all. Since the medical profession has not been able to explain to me why I still have peripheral neuropathy and a possibility of having Subacute Combined Degeneration of the Spinal Cord due B12 deficiency. I had to do all my own research with my autoimmune diseases and then presented this information to my GP and my Gastroenterologist, only then did they take me seriously and have now taken the next step to see a neurologist. I am still waiting for the results from the neurologist.

If you have any issues with your PA and have any other concerns about your health I highly recommend you get an MTHFR gene test, if it’s negative great but, if it’s positive there are supplements that can assist you and will DEFINITIVELY make a huge difference to the outcome of your health. Best of luck on your journey with this.

[jamaica105 in reply to GoneWithTheWind1972]

What extra supplements do you now take to help you absorb B12 & what dosage?

[GoneWithTheWind1972 in reply to jamaica105]

In regards to the supplements that I take with my MTHFR mutation may not be right for you, please confirm with your GP if it’s safe for you. My supplements that I take with my Methylcobalamin B12 are:

N-Acetylcysteine (supports homocysteine health.

Methyl-Guard Plus (supports methylation)

Riboflavin 5-Phosphate (vitamin B2, helps body convert food (carbohydrates) into fuel (glucose). Also helps the body metabolise fats and protein)

Saccharomyces 10B (for optimal gut health, protects the good bacteria in the gut)

L-Methyl Folate.

The above supplements help me with both my Pernicious Anaemia and my Crohn’s disease. I’ve noticed much improvement in my gut health. Please consult your primary physician before you consider taking any of these supplements.

[MoKayD]

I started freaking out when I found out I had some MTHFR mutations. It's nothing to be worried about. This is what 23 and Me says about it

Some websites have spread the idea that having one or two copies of an MTHFR variant can lead to dozens of negative health consequences. There are a couple problems with this claim. First, it’s unlikely that variants in a single gene could cause dozens of unrelated health problems. Second, the C677T and A1298C variants are very common: in some ethnicities, more than 50 percent of people have at least one copy of one of these variants. Most disease-causing genetic variants are not this common.*Another claim about MTHFR is that people who carry an MTHFR variant should avoid foods that are fortified with folic acid. However, there’s no evidence that individuals with an MTHFR variant should reduce their folic acid intake.

Here is a link to the whole article

blog.23andme.com/articles/o...

[misskritti]

Having my genes tested changed my life.

I'm also in Australia, and my GP is the one who organised my DNA testing. After years of almost daily B12 injections, my symptoms were just not improving. After discovering the MTHFR gene mutation, he changed me to a pre-methylated B12 supplement and the appropriate co-factors and I saw dramatic improvements within 2 weeks. My homocysteine levels hit the normal range for the first time in a very long time and I have literally never felt healthier! This was almost 3 years ago and my health has just gotten better and better. It may not be appropriate for everyone, but DNA testing is the best health decision I ever made.

[EchoWS]

Wow, very good results and your Dr was on it. Certainly points out how methylfolate can be the right choice if regular folate isn't working. I just have to get some regular blood tests done to see where I'm at.

[MischaMay]

I’m in UK and have MTHFR CT mutation. I supplement with 800ug L-methylated folate a day and it’s been life-changing! I listened to Gary Breka on a podcast and after hearing the symptoms starting taking it. Then I got a gene test to confirm. Wrong way round I know. But it has been such a change for my mind more than anything. I worry less. Have way less negative thoughts! I would have v unproductive days but now all my days are productive! I go to sleep rather than my mind waking up at 2am! I also tried not taking it for a week after about 4 months to see if it really was the supplement and i slumped back to this person/mind I’d almost forgotten I was! Honestly transformational. And other people have noticed too!

Short vid of Gary breka explaining this mthfr gene mutation.

youtube.com/watch?v=w-QCm7r...(Not working as expected?)

The UK has had to include folic acid in all white flour foods since 2019. It’s why I believe that so many more people have a ‘gluten intolerance’