MTHFR mutation

[LNN]

I think you need to read the Jones info carefully. I think the section that says you need to take folic acid is talking about why homocysteine is bad for everyone, regardless of MTHFR mutation. The way to lower homocysteine is to take folate. Elsewhere, it says if you have the mutation, you need to take a methyl form of folate. But I agree, it is very confusing the way it's written.

 

The "danger" of taking methylfolate - well, let's say you have the MTHFR mutation of C677T. In this case, no, there's no danger of taking methylfolate, so long as you start slow and stay balanced with other nutrients. But let's say you don't have a mutation. In this case, you could still take the methyl form of folate with no problem. However, you'd need to make sure that you were regulating your other sources of regular folate - the stuff that comes from a multivitamin, fortified cereal, other foods. Because if you have no mutation, then you'd be taking say 800mcg methylfolate - on top of the other sources.

 

This would encourage a lot of recycling of homocysteine. Not bad, except that homocysteine is used for 2 purposes. Homocysteine sits at a fork in the road. One fork uses methylfolate + methylB12 to recycle homocysteine in the methylation cycle. The other fork takes homocysteine and converts it into glutathione. If you had an abundance of methlyfolate, you could theoretically cause too much homocysteine to be recycled in the methylation process and not leave enough for glutathione.

 

If you have a mutation, this is less of a concern, because the regular folate you're taking into your body in the form of multivitamin or fortified cereal is only partially being used, depending on how severe your mutation is. So by adding methylfolate, you get "just enough" into the system.

 

So it's not like methylfolate hurts someone who doesn't have a mutation. But in time, you could end up getting too much of the stuff if you didn't keep on eye on total intake of all forms of folate from all sources. You'd in a sense be over-supplementing. Does that make sense?

[philamom]

I don't think Dr. J checks for this - at least hasn't in my daughter. I will ask at next visit.

 

Also, it is not his website per se. I once asked him about some information on the website, and he smiled and replied he had no website. I think someone got his permission to use his name (Dr. J kids) - IDK - I didn't go into detail. But, he didn't agree with what I asked him about, which was on the website.

[NancyD]

Here's a link to the SUNY study: http://www.downstate.edu/news_releases/2011/news_release_full26.html

 

This is NOT the MTHFR DNA test. This is to test the anti-Cerebral Folate Receptor Abs.

 

Thanks for all the info!

 

A quick follow up on the SUNY test -- is it something other than the DNA test showing the MTHFR DNA? When I looked for it online, that's what it seemed like to me. We had that done via Labcorp, through insurance, so I thought the SUNY test might be something different.

 

-- lfran

My DD7 is heterozygous C677T as well. The treatment for this is lifelong supplementation with methylfolate. Most of us take a multivitamin or eat cereal fortified with folate. Or when pregnant, we're told to take extra folate, as a deficiency is associated with neural tube defects in developing babies. For people with this genetic mutation, our bodies can't convert the folate in the mutlivitamin/cereal/other foods properly. So depending on how severe the mutation is (if you're hetero vs homozygous), your body can only use 50-70% of the folate in your body (if you're heterozygous) or as little as 10% of the available folate (if you're homozygous).

 

The body turns folate into methylfolate. Methylfolate, in combination with B12, converts homocysteine back into something called methionine, which is then converetd into ATP (cell energy) and SAMe (which leads to seratonin). This is a circle - one things converts into another over and over. It's called the methylation cycle.

 

Without methylfolate, not only does your body not recycle homocysteine, it also doesn't make this methylation cycle turn very well, thus reducing your body's energy and seratonin. The build up of homocysteine leads to heart disease, stroke, macular degeneration and a host of other issues. Here's a good overview that's easy to understand http://www.lef.org/protocols/heart_circulatory/homocysteine_reduction_01.htm And as Nancy said, an increase in homocysteine can also lead to a deficiency in raw materials needed to make glutathione - the king of antioxidants that help your body shed damaged cells and toxins.

 

So all in all, high homocysteine and low amounts of bio-available methylfolate is a bad thing for many reasons. When you have this gene mutation (the gene is called MTHFR and the mutation I'm talking about is the C677T - the A1298 has different implications) - the treatment is to supplement with methylfolate - a type of folate that's been pre-converted - or methylated- into what's needed to complete the methylation cycle.

 

When you first start, you want to start slow. Think of a dam of water that's built up. You don't want to open the flood gates. You first want to start a slow drain. So for my DD7 who's 47 lbs and has neuropsych symptoms, we started at 200mcg of methylfolate and did this for 2 weeks. Because it's hard to find such a low dose, we bought Amy Yasko's liquid methylfolate called methylmate (http://www.holisticheal.com/methylmate-b-nutritional-supplement.html) We built up to 3 drops and now when the bottle is gone, we'll switch to a pill in the 800mcg range. Once my DD had been supplementing for about a month, she felt better - the mood swings stopped. But she was still complaining of periodic fatigue. So we added the methyl form of B12, aka methylcobalmin. Together, the methylfolate and methylB12 help her efficiently complete the methylation cycle, helping the body create cell energy, seratonin and reduce/recycle homocysteine.

 

Our LLMD understands methylation and helped us do the testing and discussed our plan. But some of this I've done on myself as well, as the gene likely comes from me but I don't have a supportive doctor to do testing (that's in the list once we get the kids out of treatment). I think for our kids, who have infection as well as a high probability of having "broken" systems such as methylation etc, having an integrative doc on board to help is a really really good idea. But if it's just impractical, I think you can read up and do some things on your own, so long as you take it slow and balance things. Too much of any single supplement can cause problems of its own.

 

Tami - I'll PM you the name of an integrative in southern CT who knows this stuff inside and out.

[lfran]

OB gyns are on-board. My new gyn knew all about it. Cardiologists are coming on board, as high homocystein can lead to cardiovascular problems. As for the others, well, I think they don't know much about it.

 

I should know more later today, after another medical call. Will post more then.

 

for those in the know -- how much of a mainstream medicine concept is this? i have an appt with ped tomorrow to discuss testing -- he is generally open and a good member of our team, although not the person who 'treats' pandas. i'm trying to get it through him so more likely for insur coverage but curious if you can give me an idea of how out there it might be -- keep in mind, we treat with homeopathy -- so i'm okay with different paths and perceptions -- just trying to get an idea of where it might be. thanks.

[lfran]

Thanks!

Here's a link to the SUNY study: http://www.downstate.edu/news_releases/2011/news_release_full26.html

 

This is NOT the MTHFR DNA test. This is to test the anti-Cerebral Folate Receptor Abs.

 

Thanks for all the info!

 

A quick follow up on the SUNY test -- is it something other than the DNA test showing the MTHFR DNA? When I looked for it online, that's what it seemed like to me. We had that done via Labcorp, through insurance, so I thought the SUNY test might be something different.

 

-- lfran

My DD7 is heterozygous C677T as well. The treatment for this is lifelong supplementation with methylfolate. Most of us take a multivitamin or eat cereal fortified with folate. Or when pregnant, we're told to take extra folate, as a deficiency is associated with neural tube defects in developing babies. For people with this genetic mutation, our bodies can't convert the folate in the mutlivitamin/cereal/other foods properly. So depending on how severe the mutation is (if you're hetero vs homozygous), your body can only use 50-70% of the folate in your body (if you're heterozygous) or as little as 10% of the available folate (if you're homozygous).

 

The body turns folate into methylfolate. Methylfolate, in combination with B12, converts homocysteine back into something called methionine, which is then converetd into ATP (cell energy) and SAMe (which leads to seratonin). This is a circle - one things converts into another over and over. It's called the methylation cycle.

 

Without methylfolate, not only does your body not recycle homocysteine, it also doesn't make this methylation cycle turn very well, thus reducing your body's energy and seratonin. The build up of homocysteine leads to heart disease, stroke, macular degeneration and a host of other issues. Here's a good overview that's easy to understand http://www.lef.org/protocols/heart_circulatory/homocysteine_reduction_01.htm And as Nancy said, an increase in homocysteine can also lead to a deficiency in raw materials needed to make glutathione - the king of antioxidants that help your body shed damaged cells and toxins.

 

So all in all, high homocysteine and low amounts of bio-available methylfolate is a bad thing for many reasons. When you have this gene mutation (the gene is called MTHFR and the mutation I'm talking about is the C677T - the A1298 has different implications) - the treatment is to supplement with methylfolate - a type of folate that's been pre-converted - or methylated- into what's needed to complete the methylation cycle.

 

When you first start, you want to start slow. Think of a dam of water that's built up. You don't want to open the flood gates. You first want to start a slow drain. So for my DD7 who's 47 lbs and has neuropsych symptoms, we started at 200mcg of methylfolate and did this for 2 weeks. Because it's hard to find such a low dose, we bought Amy Yasko's liquid methylfolate called methylmate (http://www.holisticheal.com/methylmate-b-nutritional-supplement.html) We built up to 3 drops and now when the bottle is gone, we'll switch to a pill in the 800mcg range. Once my DD had been supplementing for about a month, she felt better - the mood swings stopped. But she was still complaining of periodic fatigue. So we added the methyl form of B12, aka methylcobalmin. Together, the methylfolate and methylB12 help her efficiently complete the methylation cycle, helping the body create cell energy, seratonin and reduce/recycle homocysteine.

 

Our LLMD understands methylation and helped us do the testing and discussed our plan. But some of this I've done on myself as well, as the gene likely comes from me but I don't have a supportive doctor to do testing (that's in the list once we get the kids out of treatment). I think for our kids, who have infection as well as a high probability of having "broken" systems such as methylation etc, having an integrative doc on board to help is a really really good idea. But if it's just impractical, I think you can read up and do some things on your own, so long as you take it slow and balance things. Too much of any single supplement can cause problems of its own.

 

Tami - I'll PM you the name of an integrative in southern CT who knows this stuff inside and out.

[lfran]

We started out with just methylfolate, then saw that methylguard plus has methylated forms of other b vitamins, so added that as well. DS10 is doing great with it.

 

As I posted earlier, shortly after starting it, nighttime wetting basically ended (DS10 had never been dry since babyhood). Also, major anxiety/fears are gone. His teacher also noted greatly improved focus, and noted the date on her calendar. She didn't tell me until 3 weeks after -- when I checked, her notation was about 4 days after starting the methylfolate. It has been about 2 months now and we all see the improvements in focus.

 

I'd love to get more data points on this and am hoping more people on this board will test their MTHFR status and/or start supplementing with methylated b vitamins and then post their results.

 

b

Hi friends,

 

A couple of questions because I'm so easily confused by all of this.

 

Lfran- why both methylfolate and methylguard plus?

 

Why does Dr. Jones recommend regular multivitamins or regular folic acid if those with mutation can't concert it?

 

Michael Tampa- Were you the one who posted that supplementation is NOT lifelong? That muscle testing indicated you needed methylfolate and then no longer did? How do you monitor that without muscle testing? Any danger to taking it when you don't need it or just pee it out/waste of $$ risk only?

 

Thanks!

[lfran]

One more thing -- there is a presciption form of methylfolate called Deplin. It is prescribed as an adjunct to anti-depressants, as it seems to boost their effect. It comes in 7.5 and 15 mg dosages. It is considered a "medical food". So psychiatrists and psychologists might be on board, as well.

[nicklemama]

I would highly recommend seeing an biomedical or integrative doctor if you are wanting to go in this direction. You really need to have biomedical testing of blood and urine done to determine exactly what your child is lacking, what your child is very high in and what is in the normal range. My DS is on methylfolate and methyl B12 injections under the supervision of an MD that practices biomedicine. DS also takes some other supplements. These were chosen for him based on the blood and urine testing the biomed MD ordered.

 

DS started his supplements and has no problems. Giving your child these supplements because they work for someone else's child is not really all that helpful. Its like closing your eyes and throwing a dart and hoping it will stick. It also might actually do more harm than good.

[NancyD]

I agree completely!!

 

I would highly recommend seeing an biomedical or integrative doctor if you are wanting to go in this direction. You really need to have biomedical testing of blood and urine done to determine exactly what your child is lacking, what your child is very high in and what is in the normal range. My DS is on methylfolate and methyl B12 injections under the supervision of an MD that practices biomedicine. DS also takes some other supplements. These were chosen for him based on the blood and urine testing the biomed MD ordered.

 

DS started his supplements and has no problems. Giving your child these supplements because they work for someone else's child is not really all that helpful. Its like closing your eyes and throwing a dart and hoping it will stick. It also might actually do more harm than good.

[coco]

Thanks for posting this. I thought I was past this one. Eesh. Had dd tested and dr b said, "she's fine.". But this post forced me to relook and she is heterozygous A1298C only. I found the below link on an MTHFR website for any of those who have kids like mine. I have been giving her methyl folate, titrating very slowly over 3 weeks. We are at about 400mcg as of Saturday. Coincidentially, she has had 2 dry nights in the last two days, and she has also struggled with this her since early childhood. I think she seems less anxious, but it could be all the other stuff we are doing as well. Would those who know more think I should continue supplementing w Methy folate? She also takes sublingual b12.

----------------------------

 

 

 

There is little known about the A1298C MTHFR mutation.

 

Or so it seems.

 

Research seems to ignore it almost completely while the C677T MTHFR mutation gets all the attention and glory.

 

For those who have the A1298C MTHFR mutation, this is frustrating.

 

Symptoms exist and doctors are saying there is no correlation between the MTHFR A1298C mutation and your symptoms – right?

 

I’d like to prove them wrong – at least for the symptoms which do correlate with the A1298C MTHFR mutation.

 

Lets’ get started.

 

The MTHFR A1298C mutation can be serious – especially if you are either:

 

Homozygous A1298C MTHFR mutation

Compound heterozgous A1298C + C677T MTHFR mutation

My current stance on the heterozygous MTHFR A1298C mutation is that it is very common and does not seem to pose too much concern unless there are other methylation or cytochrome mutations present. Obviously, if one leads a lifestyle which is unhealthy (smoking, high stress, toxic exposures) and consumes an unhealthy diet (refined carbs, processed meats, saturated fats), then having a heterozygous A1298C mutation may contribute to symptoms of cardiovascular disease, depression, fibromyalgia and others.

 

Ever hear this?:

 

Your homocysteine levels are fine. You’ve nothing to worry about.

 

I know many doctors evaluate homocysteine only when it comes to MTHFR mutations.

 

This is absolutely incorrect.

 

Those with A1298C MTHFR mutations do not display elevated homocysteine unless they are combined with C677T. Even when combined with C677T MTHFR mutations, the A1298C types still do not tend to have very elevated homocysteine.

 

Why is this?

 

The MTHFR enzyme appears to contribute function in both two major pathways: BH4 and Methylation.

 

The area which the A1298C MTHFR mutation works appears to disrupt function in the BH4 cycle.

 

The BH4 cycle is absolutely critical for these various functions:

 

assists the breakdown of phenylalanine

helps form these neurotransmitters:

Serotonin

Melatonin

Dopamine

Norepinephrine (noradrenaline)

Epinephrine (adrenaline)

cofactor to produce Nitric Oxide (NO)

assists breakdown of ammonia

If your BH4 cycle is not working properly due to an A1298C MTHFR mutation, you are definitely going to be expressing some symptoms either mentally, emotionally or physically – or – all together.

 

Once you understand the biochemical effects the A1298C MTHFR mutation causes, it becomes easy to identify possible problems.

 

I am going to list possible symptoms, signs and conditions associated with A1298C MTHFR mutations. Keep in mind this is not a comprehensive list. I will add to it as I think of more (or you inform me of ones that I have omitted).

 

Possible symptoms associated with A1298C MTHFR mutations:

 

hypertension

delayed speech

muscle pain

insomnia

irritable bowel syndrome

fibromyalgia

chronic fatigue syndrome

hand tremor

memory loss

headaches

brain fog

Possible signs associated with A1298C MTHFR Mutations:

 

elevated ammonia levels

decreased dopamine

decrease serotonin

decreased epinephrine and norepinephrine

decreased nitric oxide

elevated blood pressure

muscle tenderness

ulcers

pre-eclampsia

Possible conditions associated with A1298C MTHFR mutations:

 

fibromyalgia

chronic fatigue syndrome

autism

depression

insomnia

ADD/ADHD

irritable bowel syndrome

inflammatory bowel syndrome

erectile dysfunction

migraine

Raynaud’s

cancer

Alzheimer’s

Parkinson’s

recurrent miscarriages

There are certain dietary, lifestyle and supplemental recommendations that help reduce the effects of the A1298C MTHFR mutation.

 

That is well beyond the scope of this article.

 

There are a few nuances making it difficult to simply give flat recommendations for all who live with the A1298C MTHFR mutation.

 

Remember, if you are homozygous A1298C or compound heterozygous MTHFR, the likelihood of your family members also having MTHFR mutations is very high.

 

Get them tested!

 

For now, I hope this is useful for you and has shed some light into your situation.

 

Please do post questions, thoughts and comments below – and share this with your friends and family.

 

Please Help Spread the Word!

[NancyD]

Only problem with Deplin is you CANNOT get it dye-free. Can't even have it compounded. We went with Thorne 5-MTHF. It comes in 1000 mcg and 10 mg capsules (my DD16 takes 10 mg). LLM gets it in liquid form so she can give smaller doses.

 

One more thing -- there is a presciption form of methylfolate called Deplin. It is prescribed as an adjunct to anti-depressants, as it seems to boost their effect. It comes in 7.5 and 15 mg dosages. It is considered a "medical food". So psychiatrists and psychologists might be on board, as well.

[LNN]

Yasko's book says that A1298 doesn't lead to elevated homocysteine and doesn't require supplementation with methylfolate. Instead, this mutation effects BH4, which is a gut/liver thing. She says it can effect the Krebs cycle and can lead to a build up of aluminaum and a reduced ability to clear bacterial infections (Klinghardt speaks about Krebs/aluminum and infection too, but doesn't tie it to A1298). She suggests supporting BH4 levels but no matter how many times I read the chapter, it's not clear how to do this. Online places have suggested DMG/TMG as a supplement. Maybe someone else can interpret her advice. It's not clear to me what to specifically do about the A1298.

[JAG10]

LFran,

Was your GYN in the know because of the need for "folic acid" or methyl folate during pregnancy OR because those with MTHFR mutations are warned about birth control pills?

I know we mainly have the "pediatric" mindset when we discuss our kids here, but our young ladies will eventually be sexually active and we should be informed about those implications as well. Those references to BCPs are so vague and general..... Who knows if the risks are associated with increasing age or what? And what about us moms? How many of us have also been tested and discussed this issue with our own GYN in relationship to birth control or any hormone therapy?

[LNN]

My OBGYN was only vaguely aware of MTHFR and methylfolate - not enough to be telling her pregnant patients about it or testing for it (Grrr). I also told her about some fibrocystic issues I was having - neither the OBGYN or my PCP had any suggestions for the pain and they shrugged, suggested I could have a $425 out of pocket mammogram/ultrasound to rule out tumors. Then my naturopath recommended iodide supplement and in 2 months, the pain has completely resolved (mammogram was also normal - was able to avoid the ultrasound and only be oop $225 - but I did make sure I ruled it out). The iodide info is mainstream http://www.umm.edu/altmed/articles/iodine-000308.htm and NIH http://ods.od.nih.gov/factsheets/Iodine-HealthProfessional/ (about 2/3 down the page). But my OBGYN had no idea. At least she wrote it down so she could look into it.

 

(and FWIW - for those who have menopause on the radar - look into black cohash before filling a script for HRT).

 

There's this general assumption that mineral/vitamin deficiencies are rare, that pharmaceuticals are superior and safer than supplements and that it's certainly legally safer to prescribe something to minimize disease symptoms than to look comprehensively at prevention. Ok, enough ranting for now.

[bsimon3]

Today I received Labcorp test results by mail from our doc's office. DS9's results show:

C677T Single mutation (A1298C mutation is negative).

Vitamin B12 tested at 527 pg/mL (ref: 211-946).

Folate (folic acid), Serum tested at 16.7 ng/mL (ref: >3.0)

 

Homocysteine was not tested.

 

Our followup appt with this doc to go over results isn't until the end of the month. What I am wondering is "now what"? Since DS's folate levels check out fine, does it naturally/automatically follow that his homocysteine levels are also fine? What questions should I be asking and should I be asking for more tests?

 

We have our first appointment with Dr. B (CT) in mid-July. Will Dr. B be able to advise us concerning these results?

 

Thanks all!