MTHFR mutation

[Tekate]

Coming at you girlie!

I want one too!

 

[missy]

missy I know the brain fog must be no fun

I don't have anything to add other than I'm thinking of you.

Thank you CJ.

I am only posting here because you’re asking for input, but no decent physician believes in mthfr mutations. It is really not based in science at all, and is really a money making business by shady naturopaths and some ‘integrative’ people.

Here is an excellent article on it:

https://sciencebasedmedicine.org/dubious-mthfr-genetic-mutation-testing/

Thanks very much Kama. Interesting and I appreciate your input and the link. My internist said that jury is still out and and from what reading I have done it does seem it can certainly be a factor in the development of certain diseases. The function of the MTHFR gene is to produce the MTHFR enzyme and if the MTHFR gene is mutated, the enzyme produced is not entirely correct and that can be a problem.

From the Wellness Mama site:

The MTHFR gene produces this enzyme that is necessary for properly using vitamin B9. This enzyme is also important for converting homocysteine into methionine, which the body needs for proper metabolism and muscle growth and which is needed for glutathione creation . The process of methylation also involves the enzyme from the MTHFR gene, so those with a mutation may have trouble effectively eliminating toxins from the body.

So as I wrote before I do not think it is straightforward in that if one has a mutation on one or both of the MTHFR genes that one will definitely have problems but given what I have read it sure makes sense to me that it can become a big problem. But the true test of this will be with time. Science can move slowly at times but forward and onward and I am glad for all the scientists and researchers who give it their all to find real answers that can help real people.

 

[missy]

I am only posting here because you’re asking for input, but no decent physician believes in mthfr mutations. It is really not based in science at all, and is really a money making business by shady naturopaths and some ‘integrative’ people.

Here is an excellent article on it:

https://sciencebasedmedicine.org/dubious-mthfr-genetic-mutation-testing/

Just read this and I completely agree. Using the genetic info as a tool to see if there is a problem and if there is not then you can leave the info just where it is. Today I asked my internist to test homocysteine levels (he never did that for me before) and to test heavy metals. So in this case depending on my results I might be able to do something to alleviate issues or if there is nothing wrong then I know that is not the cause.

It's just one piece of info in my health puzzle and I think if one does genetic testing that is exactly how it should be approached. I agree with you Kama there are too many so called health professionals who are quick to separate people from their money in the promise of restoring good health. And of course there are principled physicians out there too but one must do their due diligence. In general I am of the school of thought that "Knowledge is Power". As long as you use that knowledge wisely.

After all we know that the mutation doesn't cause the disease but the lack of folate or excessive homocysteine, both of which can be treated quickly and successfully. In this case the knowledge that one has the MTHFR mutation can lead to successful diagnosis and treatment if necessary.

 

[Shiny_pretty_things]

I am only posting here because you’re asking for input, but no decent physician believes in mthfr mutations. It is really not based in science at all, and is really a money making business by shady naturopaths and some ‘integrative’ people.

Here is an excellent article on it:

https://sciencebasedmedicine.org/dubious-mthfr-genetic-mutation-testing/

This really irritates me to be honest. No 'decent' physician? Well thats pretty subjective isn't it? And for the record, I know a number of physicians some 'decent' and some not. As with everything, nothing happens in isolation so while a particular snp (single nucleotide polymorphism - basically a single genetic variance) may not impact a perfect healthy individual, if there are other factors at play, then of course it can affect someone.

I hear the words 'this isn't based in science' thrown around a lot and that also annoys me. As someone who has contributed to an educational textbook on applied research, I can tell you that sadly, published research isn't as straightforward as we would like it to be. Subject matter is often determined by who pays, and publishing journals tend to have a bias to research that shows expected results - i.e. if you want to conduct research, you'll have more luck if you pick certain topics and if you tend to have certain results. That doesn't mean published research is all invalid, but it also means that its more of a grey area than is often made clear.

I see Missy is being a lot nicer than I am

 

[missy]

@Shiny_pretty_things I hear you and am right there with you.

This is definitely a controversial area but I am a firm believer in making the info work for us. So while there is not yet a black and white causal relationship b/w having an MTHFR mutation and certain diseases there is definitely more to explore and nothing is definitive as of yet. It is most likely a multifactorial cause. Having the mutation plus environmental factors plus unknown factors turns the defective gene on and causes problems for some.

What I would encourage people who have questions is have their homocysteine levels checked. People with MTHFR mutations can have normal or elevated levels of homocysteine in their blood or urine as elevated homocysteine can be a risk factor for a number of health conditions.

People with very high homocysteine levels should be carefully evaluated for other factors known to affect homocysteine. Conditions including hypothyroidism, diabetes, hypercholesteremia, hypertension, etc.

High homocysteine levels can also result from dietary deficiencies of folate, vitamin B6, and vitamin B12. It is very important to diagnose vitamin B12 deficiencies, as high dose folic acid supplements can mask B12 deficiencies, and put people at risk for serious and irreversible symptoms.

That's why IMO it is only a good thing to check one's homocysteine levels if one has a problem and not just treat the symptoms but find the cause ie in the above example high homocysteine and then take steps to correct it ie *proper* supplementation.

And in my case my physician has never checked my homocysteine levels. Now if I was 100% healthy and feeling well there would be no need to check but having all these AI conditions (some very very rare ones too) and having the homozygous MTHFR mutation spurred me on to just evaluating it all further.

Knowledge is power as I wrote before but one definitely needs the whole picture so yes we cannot just say OK MTHFR mutation=problem but we can say MHTFR mutation+lost of AI symptoms (in my case)= worth exploring further.

 

[TooPatient]

Missy, I have heard mention of it but don't know anything about it other than what I have been reading in the links here. I'm sorry you are going through this. I hope your doctors can figure out what is going on and have a way to make it better.

 

[missy]

Thanks @TooPatient. I hope your vision is improving and you are feeling well. I am always keeping you in my thoughts. (((Hugs))).

 

[Platinum-blonde]

Do not take folic acid! No one with the MTHFR gene should take it - which is in most multivitamins. You can only take methylated folate. Let me know if you wanna talk about supplementation - I’ve researched the heck out of this gene

There seems to be some debate about folic acid. My friend had several early miscarriages, was diagnosed with the mutation, and put on extra folic acid.

My cousin, on the other hand, had the same history and diagnosis, was told that folic acid is bad, and was put on baby aspirin.

Both ladies had healthy full term babies.

I’ve heard the at mutation could be related to more issues than just miscarriages. Good luck @missy I hope that you get some answers, and start feeling better soon!

 

[kama_s]

This really irritates me to be honest. No 'decent' physician? Well thats pretty subjective isn't it? And for the record, I know a number of physicians some 'decent' and some not. As with everything, nothing happens in isolation so while a particular snp (single nucleotide polymorphism - basically a single genetic variance) may not impact a perfect healthy individual, if there are other factors at play, then of course it can affect someone.

I hear the words 'this isn't based in science' thrown around a lot and that also annoys me. As someone who has contributed to an educational textbook on applied research, I can tell you that sadly, published research isn't as straightforward as we would like it to be. Subject matter is often determined by who pays, and publishing journals tend to have a bias to research that shows expected results - i.e. if you want to conduct research, you'll have more luck if you pick certain topics and if you tend to have certain results. That doesn't mean published research is all invalid, but it also means that its more of a grey area than is often made clear.

I see Missy is being a lot nicer than I am

You don’t need to explain what SNPs are to me. Or research. I have spent decades in clinical research and biostats, from designing phase 3 and 4 trials to writing protocols, ethics approvals and data analysis. And have published in top tier journals. But thank you for assuming. Congrats on your book chapter.

 

[missy]

There seems to be some debate about folic acid. My friend had several early miscarriages, was diagnosed with the mutation, and put on extra folic acid.

My cousin, on the other hand, had the same history and diagnosis, was told that folic acid is bad, and was put on baby aspirin.

Both ladies had healthy full term babies.

I’ve heard the at mutation could be related to more issues than just miscarriages. Good luck @missy I hope that you get some answers, and start feeling better soon!

Thank you @Platinum-blonde . Generally I feel well. Just that a few more AI diseases have popped up and sadly I am now losing my eyebrows and hair but there is little I can do atm. Plus we are trying to get my hashimotos under control. That is unrelated however to my alopecia except to say one AI disease usually keeps company with many others which is proving true with me.

So just taking things one day at a time and making sure I take methylated supplements (since my body cannot convert them) and make sure not to eat anything with folic acid. Foods that have folate are OK but added folic acid is bad since I cannot convert it and it builds up to toxic levels in my body. I am still waiting results of my heavy metal testing and homocysteine levels.

And definitely this mutation can affect those trying to get pregnant and affect the safety of the unborn baby so important to supplement correctly if one has this mutation. Especially the homozygous mutation.

Very happy for you that both your cousin and friend gave birth to happy healthy babies.

 

[Shiny_pretty_things]

You don’t need to explain what SNPs are to me. Or research. I have spent decades in clinical research and biostats, from designing phase 3 and 4 trials to writing protocols, ethics approvals and data analysis. And have published in top tier journals. But thank you for assuming. Congrats on your book chapter.

Well done you for your decades in clinical research and bio stats and for publishing in top journals. That being the case, I'm astounded that you ignore the grey areas in published research as it sounds like you, more than most of us, would know about them.

No one knows everything, we are still learning all the time - a defining feature of scientific endeavours I would have thought, so it frustrates me when I come across what seems like close mindedness. To clarify, I wasn't explaining SNPs to you specifically ( I could hardly know whether you knew the term or not), I was explaining them as I realised that I was constantly repeating an acronym that others on the thread may not understand and it seemed polite to clarify. I assumed nothing ( I don't know you), I simply responded to what you typed.

Rereading my post, the point I was trying to make was that research is not always as straightforward as it is presented and I was trying to back that up with something more than just a statement of opinion - albeit clumsily and I didn't express myself well obviously. But thank you for putting me in my place, that'll learn me.

I'm sorry Missy, you've been lovely throughout and so has everyone else who has helpfully posted so I feel guilty for causing any drama on the thread. I think I'll go back to lurking

 

[missy]

Well done you for your decades in clinical research and bio stats and for publishing in top journals. That being the case, I'm astounded that you ignore the grey areas in published research as it sounds like you, more than most of us, would know about them.

No one knows everything, we are still learning all the time - a defining feature of scientific endeavours I would have thought, so it frustrates me when I come across what seems like close mindedness. To clarify, I wasn't explaining SNPs to you specifically ( I could hardly know whether you knew the term or not), I was explaining them as I realised that I was constantly repeating an acronym that others on the thread may not understand and it seemed polite to clarify.

Rereading my post, the point I was trying to make was that research is not always as straightforward as it is presented and I was trying to back that up with something a little more than simply a statement of opinion - albeit clumsily and I didn't express myself well obviously. But thank you for putting me in my place, that'll learn me.

I'm sorry Missy, you've been lovely throughout and so has everyone else who has helpfully posted so I feel guilty for causing any drama on the thread. I think I'll go back to lurking

Aww please stay. I appreciate your input and have found your posts helpful. Please don’t let others who disagree prevent you from sharing info and thoughts and advice. I very much appreciate your posts.

And wishing your child good health.

 

[Shiny_pretty_things]

Aww please stay. I appreciate your input and have found your posts helpful. Please don’t let others who disagree prevent you from sharing info and thoughts and advice. I very much appreciate your posts.

You're so nice , thank you I'm having some difficulty typing this actually as I have a kitten partly on my keyboard trying desperately to get some love

 

[missy]

You're so nice , thank you I'm having some difficulty typing this actually as I have a kitten partly on my keyboard trying desperately to get some love

Awwww kitty. Sigh. Kitties and puppies make everything seem brighter.

 

[Shiny_pretty_things]

Awwww kitty. Sigh. Kitties and puppies make everything seem brighter.

They do! Also sparkly stuff

 

[kama_s]

Well done you for your decades in clinical research and bio stats and for publishing in top journals. That being the case, I'm astounded that you ignore the grey areas in published research as it sounds like you, more than most of us, would know about them.

No one knows everything, we are still learning all the time - a defining feature of scientific endeavours I would have thought, so it frustrates me when I come across what seems like close mindedness. To clarify, I wasn't explaining SNPs to you specifically ( I could hardly know whether you knew the term or not), I was explaining them as I realised that I was constantly repeating an acronym that others on the thread may not understand and it seemed polite to clarify. I assumed nothing ( I don't know you), I simply responded to what you typed.

Rereading my post, the point I was trying to make was that research is not always as straightforward as it is presented and I was trying to back that up with something more than just a statement of opinion - albeit clumsily and I didn't express myself well obviously. But thank you for putting me in my place, that'll learn me.

I'm sorry Missy, you've been lovely throughout and so has everyone else who has helpfully posted so I feel guilty for causing any drama on the thread. I think I'll go back to lurking

Actually, it’s not called being closed minded but practicing evidence based medicine. There is a reason why it takes Phase 0,1,2 AND 3 studies spanning decades and thousands of patients before a drug is approved. Or multiple randomized controlled trials before an accrediting body puts forth consensus guidelines. The stakes are high, and safety is paramount. So I’m sorry if I don’t agree with changing practice based on a mere hypothesis. That is simply not evidence based medicine. If you actually took the time to read the link I shared, you would have realized this.

 

[kama_s]

Missy, I think your approach is excellent with checking your homocysteine and folate levels. I think that is where evidence based medicine is clear - and this can be tested easily by your doc (as you have already set out to do). The issue really is when these mutations are used to blame everything under the sun, including vaccine injuries and many naturopaths use this opportunity to sell expensive tests and vitamins.

Here is another excellent article that essentially states:
https://www.skepticalraptor.com/ske...utations-are-the-root-of-all-health-problems/

“MTHFR gene mutations are easily diagnosed by high levels of homocysteine and low levels of folate. These conditions can be diagnosed with an inexpensive test”

“The TL;DR version

1. MTHFR gene mutations are a serious problem if left untreated.
2. The consequences of MTHFR gene mutations can be easily diagnosed and treated, even in the young.
3. MTHFR gene mutations are, as of the date of this article, unrelated to any vaccine adverse effect.
4. MTHFR gene mutations do not lead directly to various disorders and diseases, only the the lack of a cheap and effective treatments do.
5. Quacks who are pushing MTHFR gene mutations as the basis of a wide range of diseases are in it for money, because, it is easily and cheaply treated (in most cases).”

 

[goldenfire]

I am wondering if anyone here has experience with this genetic mutation and if so would you mind sharing. I am finding it all a bit overwhelming (despite having a strong science background) and would love to be able to discuss if possible. Thanks.

Missy I can send you links if you want me to, just lmk. I have MTHFR as do my kids and we have been seeing really good changes with gradually adding methylated B, folate in particular vitamins etc. I can email some of the stuff I found. Pretty sure I have your info in my inbox from back when D&T sent us pics of her (now my ) oec ring...

 

[missy]

Missy I can send you links if you want me to, just lmk. I have MTHFR as do my kids and we have been seeing really good changes with gradually adding methylated B, folate in particular vitamins etc. I can email some of the stuff I found. Pretty sure I have your info in my inbox from back when D&T sent us pics of her (now my ) oec ring...

Thanks very much @goldenfire. So glad you and your kids are doing well with the changes you added.
I would love any info you can share with me. In case you don't have my email anymore here's my link on louptroop.

https://loupetroop.com/listings/other/for-pricescopers-heres-my-contact-info

or if you have my other (more regularly used) email address please email me there. Otherwise I will check the email address I shared on the loupe troop link and give you my more regularly used email addy after you contact me there. Thanks!

What I am currently doing:
For my MTHFR homozygous C677T I am currently taking Pure Encapsulations methylB12 folate 1000 twice a day and P5P (methylated B6) plus Methylated B2, B1, B5. Also taking Zinc, Selenium, other minerals, Potassium Iodide, Vitamin C (1000 twice a day sometimes three times a day), D3 plus K2, Lipodetox support (from Pure Encapsulations). Also newly taking HCL Pepsin (hypothyroid generally has low stomach acid associated with it), digestive enzymes with meals and now a few more things added yesterday. Will any of these help? I don't know but I am doing everything I can to get well.

My biggest issue right now is I cannot get the thyroid meds into my cells and instead it pools causing heart palpitations. I am still very very low hypothyroid and cannot find a doctor who gets how to treat my challenging case.

 

[twang07]

Hi I'm doing my PhD in genetics or better stated, genomics and I want to try and explain some of the science.

First, I am sorry you are going through a tough to crack case. Hope you are feeling better. I want to say that this will be a long read so bare with me. Some of this might be rehash since you are more in tune with science but I just wanted to set the stage for others who might not be.

A little background about genetics. When we first started understanding how traits and genes were passed down, we learned from our favorite model organisms like yeast and fruit flies. We'd make mutations and sometimes this produced a visible trait you could measure and we'd learn that there was only one casual gene, or mutation that was responsible for this phenotype, setting up our foundation of understanding. Proteins are produced by the genome and mutations in proteins often have effects for traits that we can measure. This is our baseline and our foundation. As we have mapped our understanding into humans, we found that there are indeed variants that have detrimental effects and that are only explained by one mutation. Good examples include: cystic fibrosis and Tay Sachs disease.

So after we sequenced the human genome, a considerable feat given that our genome is 3 billion basepairs, we thought we'd know everything about how genetics and disease work with one another that we could predict just using the code. Unfortunately that has not really panned out in real life. Most complex diseases are not easily explained by one variant. And the technology used to measure variation (the microarray that 23andme uses) tests for common variation in the genome. Common variation are those that are in every genome, that separate ethnicities for instance. They are the variants that have a higher frequency in the general population. These variants fall under a class that is on the bottom right corner of this plot in most cases for diseases. You usually need a huge number of patients to even confidently say that this variant is more frequent in diseased versus normal, and just having one of them is usually not the full story. We're currently still trying to flesh out this entire plot.


Source: http://mobiosci.blogspot.com/2012/11/can-genome-wide-association-studies.html?m=1

So the science behind MTHFR doesn't even classify in the bottom right hand corner of this plot. Back when microarrays were new, and our understanding of genomics was poor, we'd have like 10 patients and 10 healthy individuals and we'd see that MTHFR was a bit more common in patients than in healthy with just 20 people in total. This was bad science because we could test so many variants now that we were likely to find things just by chance, not due to actual causation or association. We know because if we took 1000 patients and 1000 healthy individuals, we'd see that many healthy individuals would also have the MTHFR mutation but not the disease. We call this particular experiment replication, and replication is a necessary evidence to say that this variant even gets to be in the bottom right plot.

Genomics is extremely complicated than our first understanding from model fruit flies and a lot of the confusion is that we just don't understand how the genome gets to produce all the awesome things that we see in living humans. Even our best understanding is the units of the genome that produce proteins, but this is a trivial 2% of our genome and many of the most highly associated mutations are not in the units that produce protein. The jury is still out, but part of the complications is that variants may interact with one another in ways that are very difficult to test statistically and even harder to test in our favorite model organisms. There is natural variation in our genomes that might make something like MTHFR mutation meaningful in some individuals but MTHFR alone is not going to have a strong effect on any trait. And that's part of the mystery that we continue to try and unravel.

Placebo effects are real, that's why we have to test for them. If taking vitamins is making you feel better than take them! But if you are spending way too much on vitamins and still feel awful, I'd highly recommend thinking about the science behind this mutation and reconsider your actions. Often vitamins are supplemental to our diet, and the extra just get excreted out, your body knows when it's had enough and removes the rest. It's not backed by evidence-based science, no, but we don't really understand why there are placebo effects in the first place, we just know that it's real! So this is an important concept as you continue to seek out care.

I am sorry for the novel, but I hope what I've written makes sense, I have found that speaking about science in a not complicated matter is something that I need to still work on.