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MTHFR.....What caused you to ask for testing?


Jenrae
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After reading so many threads on MTHFR, I have often wondered what caused you to ask for this genetic testing?

 

I am assuming you had some health condition, but what symptoms would indicate the need to test?

 

I had a Dr. years ago tell me that my body didn't prcess B like other peoples but he never tested me, and gave me no diagnosis. Years later with fatigue, and other syptoms, I wonder.

 

I did just recently purchase the B vitamins someone here recommended by Emerald Lab. Just began taking them.

 

 

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Oh yes, the acronym. :)

 

My doctor tested me, she brought it up. I didn't know to ask. I believe she did so because she saw that I am unable to take certain meds. I can't detox them, and at one point, well, it was bad. I am glad to be here. I also have Hashimoto's, Addison's, and a ton of other issues that can be considered related.

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Would someone please spell out what MTHFR stands for? Because, that acronym...see what I mean?

 

OP thanks for the reminder, I've been meaning to pick up some of those B vitamins.

 

Methyl Tetra Hydra Folate Reductase   (I could say the name before I would get the acronym in the right order.)

there are two common mutations - 677, and 1298 (the letters you sometimes see after or before the numbers refer specifically to the amino acid on the gene.  it varies according to the mutation or lack thereof). it is thought about 50% of the population has some degree of the mutation.  someone can have a single mutation (heterozygous); a double mutation (homozygous); be heterozygous for both (1 copy of each - often called compound);  or even be homozygous (2 copies) for one and heterozygous (1 copy) for the other.  which mutation, and how many mutated genes all affect how b vitamins are utilized for the methylation cycle. 

 

diet makes a big deal in how they are affected.   more green leafy veggies, and fish.

I'm the one  who recommended the emerald labs b-complex.  I'd been taking naturemade super b for several years.  it was better than nothing, but I only ever noticed the benefit by it's absence. then I started learning about bioavailability and became pickier about quality.  emerald labs  .. .  7 - 10 days after I started taking it, I felt like someone had turned on a light switch. 

 

there are increased tendencies for specific conditions associated with each mutation - but there can also be crossover.

 

Most drs really don't know much about this, though some do.  naturopaths will be mostly likely to know the most.

 

dudeling had many challenges -  among those I've sought help from for him is a naturopath who specializes in developmental disorders in children.  adhd, asd, ocd, odd, etc. (mthf has a piece in all of them.)  after my filling out the family history - one of the first things she did was have him tested. previously, I had never heard of it.  he is heterozygous (one copy).  I had another child tested - he is also hetero.  my dd was tested by her provider - she is homozygous. (so, dh and I were both at least heterozygous).  My own dr, a DO, had read about it and wanted to have me tested, since by then I knew I was at least hetero, I almost said no.  I'm glad I didn't, as I am also homozygous.  so, all of my kids are *at least* heterozygous.    (she did NOT know enough to properly treat me.  she immediately put me on 15mg of mthf.  I knew you needed to ramp up or down to avoid side-effects and determine optimum doseage, but I took it anyway . .  crime's its own punishment . . . . .  I now take 1 - 2 mg of THORNE mthf, I do need to try ramping up again.  dh ( heterozygous.)  takes 5mg because that was the point where he felt better.

 

Not all supplements labeled "mthf" you will find for sale are the same - so stick with a high quality OTC - like THORNE (recommended by NDs).  it comes in 1mg and 5mg.  costs the same about everywhere.  I order it off amazon as it can be harder to find. metafolin is rx only, and comes in 7.5mg or 15mg.

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some of the mthf symptoms in my extended family are

joints - lots of knee replacements

vascular - lots of TIAs and/or hearts

mental illness

  1. anxiety
  2. schizophrenia
  3. depression

addictions -

  • one funny from a ND who was treating a patient with a very high tolerance for alcohol.  shortly after she started him on MTHF - his tolerance plummeted, and he could only have one or two drinks max.  it annoyed him to no end, but did save him a lot of money.

developmental processing disorders - (ASD, ADHD, OCD, ODD, etc.)

 

 

dh is hetero - we see it to a lesser extent in his family, but certain members were definitely symptomatic. (schizophrenia, asd)

 

 

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Dr. Ben Lynch has a seemingly exhaustive list of symptoms on his MTHFR website which should be helpful to you.

 

We tested one family member here because of 2 symptoms that matched that list (one of which was fairly serious until healed), as well as symptoms of extended family members. No MTHFR on the family member we tested, which I was somewhat surprised by. We still all use a high-quality B-complex by Premier Research Labs which has the methylated Bs in it.

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I had DS and I tested due to depression, anxiety, and joint problems. I am homozygous for one mutation and DS is hetero for 2 mutations. We just switched to HomocysteX Plus, after trying a different supplement for a while without much improvement. Some people say it can take 4-6 weeks to see the full effect, so we'll wait and see how it goes.

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I try to replace the bad word by thinking "mother father" gene.

 

Never tested. I don't know if the drs would even know what I was asking about.

 

You can do the test yourself. I used the ancestry.com test, but I think the 23andme test is a bit more detailed. When you get the results you can upload them to a site that scans for the MTHFR mutations, as well as a few other mutations with similar effects.

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Would someone please spell out what MTHFR stands for? Because, that acronym...see what I mean?

 

OP thanks for the reminder, I've been meaning to pick up some of those B vitamins.

 

MTHFR =Methylenetetrahydrofolate reductase

 

It is a type of enzyme that helps us in the methylating process. When it's lacking or is compromised, this process is also slow or compromised.

 

My naturopath just checked on it routinely during a comprehensive blood test and found that I am postive for heterozygous, meaning I have one set of compromised enzymes inherited from one parent.

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I found out after having 23andMe testing done a couple years ago. Many of the symptoms fit but I wasn't too familiar with MTHFR until a friend of mine mentioned it to me.

 

Do doctors take results seriously if you get it done on your own?
 

 

A little over a year ago I had a life-threatening cardiovascular event and underwent a lot of testing looking for genetic clotting conditions. I mentioned MTHFR to the doctors while I was still in the ICU but some doctors seemed unfamiliar with it and others just dismissed my mention of it. 

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Well, I was having symptoms of malabsorption of b vitamins, my liver was struggling, and my children all have mild midline defects of varying types (palate issues and tongue tie, along with some hernia issues). In hindsight I had some mood issues that also have likely been related.

 

I had already checked it out and didn't think I had enough symptoms. My NP thought otherwise. She had me tested and was correct.

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Well, I was having symptoms of malabsorption of b vitamins, my liver was struggling, and my children all have mild midline defects of drying types (palate issues and tongue tie, along with some hernia issues). In hindsight I had some mood issues that also have likely been related.

 

I had already checked it out and didn't think I had enough symptoms. My NP thought otherwise. She had me tested and was correct.

 

What are your malabsorption symptoms, if you don't mind answering? Ditto about the liver. I am wondering how bad someone's liver has to be before a doctor cares (I have mildly elevate enzymes in spite of excellent cholesterol, and I have terrible vitamin D levels).

 

I have lots of transient symptoms that go with MTHFR, but it seems like one things gets better and then another comes along. Of course, this makes me look like I am a hypochondriac. The family tree is full of related but hard to pinpoint stuff.

 

One way I've seen to interpret the acronym is the "Monday-Thursday-Friday gene."

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I first heard about it in the online Down syndrome circles that I frequent. I had dd tested and she was hetero for C677T (I think those are the right letters). So, I had me tested. Neither her pediatrician, nor my doctor, knew anything about it/had never heard about it, but ordered the blood draws. I am also hetero for C677T. We now treat our three boys as if they are also hetero, though they may not be, and everyone in the family uses Thorne vitamins (well, dd uses specific ones designed for those with Down syndrome, but they have the right form of Bs). I can see a history in both sides of my family, though I haven't convinced my mom to be tested and my dad passed 8 years ago. 

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What are your malabsorption symptoms, if you don't mind answering? Ditto about the liver. I am wondering how bad someone's liver has to be before a doctor cares (I have mildly elevate enzymes in spite of excellent cholesterol, and I have terrible vitamin D levels).

 

I have lots of transient symptoms that go with MTHFR, but it seems like one things gets better and then another comes along. Of course, this makes me look like I am a hypochondriac. The family tree is full of related but hard to pinpoint stuff.

 

One way I've seen to interpret the acronym is the "Monday-Thursday-Friday gene."

I had fatigue so bad I couldn't get out of bed, even with about a dozen high quality supplements and my hypothyroid already treated. Some was my adrenal fatigue, but some was that I just wasn't processing b vitamins or even iron very well. I had consistently low blood levels despite massive supplementation and dietary intake. I was diagnosed after pregnancy - my liver enzymes were elevated and I was showing symptoms of mild toxicity. It just wasn't keeping up. It turns out the vitamins my body couldn't process were accruing in my tissues and poisoning me. Super, right?

 

There is more but I'm drawing a blank. Unfortunately with my adrenals issues I struggle with brain fog and it's bad right now - I've slacked off on my methylated B and glutamate and now I'm paying for it. I also overdid it yesterday. Whoops.

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I had fatigue so bad I couldn't get out of bed, even with about a dozen high quality supplements and my hypothyroid already treated. Some was my adrenal fatigue, but some was that I just wasn't processing b vitamins or even iron very well. I had consistently low blood levels despite massive supplementation and dietary intake. I was diagnosed after pregnancy - my liver enzymes were elevated and I was showing symptoms of mild toxicity. It just wasn't keeping up. It turns out the vitamins my body couldn't process were accruing in my tissues and poisoning me. Super, right?

 

There is more but I'm drawing a blank. Unfortunately with my adrenals issues I struggle with brain fog and it's bad right now - I've slacked off on my methylated B and glutamate and now I'm paying for it. I also overdid it yesterday. Whoops.

 

Thanks for sharing.

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You can do the test yourself. I used the ancestry.com test, but I think the 23andme test is a bit more detailed. When you get the results you can upload them to a site that scans for the MTHFR mutations, as well as a few other mutations with similar effects.

 

Can you go into more detail about this? How do you upload, and to what site? For the ancestry test, or 23andme? 

 

And... does anyone know if you already take the methylated B vitamins, would that skew the test?

 

Thanks.

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Can you go into more detail about this? How do you upload, and to what site? For the ancestry test, or 23andme? 

 

And... does anyone know if you already take the methylated B vitamins, would that skew the test?

 

Thanks.

 

23andme provides raw genetic data.  You then upload to http://geneticgenie.org, which will provide info on some of the mutations present.

 

Another site with some info is http://www.heartfixer.com/AMRI-Nutrigenomics.htm

 

Plus you can get a report for $5 from promethease.com.  You can find out all sorts of random genes (which may or may not actually help you LOL but it's interesting) as it sifts through your data for certain conditions.  You can also poke around at snpedia.com if you're curious about specific things and then search your text file to see whether you have a particular gene once you know the RS id # and the relevant letters.

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How does the testing help once you get the results?  Does the treatment differ or is it to have useful information?

 

I am wondering the same thing.  Is the testing helpful or would it just be prudent to take the better form of folate anyway?  I had never heard of this before yesterday when doing some research on Folic Acid and then I stumbled on this thread today.  I have psoriatic arthritis and have to take a chemotherapy drug called methotrexate every week by injection.  Because of this, I have to supplement with large doses of folic acid every day because the medicine interferes with it and causes bad side effects.  I've noticed that my folic acid, Solgar 800mcg, which I take 3x a day, doesn't seem to be helping.  Anyway, I think I'm just going to go ahead and try the Emerald Labs one and see if it helps.  

 

Thanks,

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I first heard about it in the online Down syndrome circles that I frequent. I had dd tested and she was hetero for C677T (I think those are the right letters). 

 

the letters refer to the amino acid on the gene.  it varies according to no mutation, one mutated, or both genes mutated.

I'm confused about the use of Emerald Lab B vitamins and the other supplements that PPs have mentioned like Enlyte. Can someone help?

 

mthf reduces the ability to use b-vitamins. supplementing with high quality b-vitamins can help.  emerald labs only uses the most bioavailable forms.  it was developed by a naturopath.

I also felt better when I stopped eating just about every single form of sugar (no lactose - milk, no fructose - fruit, no substitutes, no honey, no agave, etc.).  nothing that contained sugar - bread.  it took a month, but I could think clearly, and had tons of energy.  it's very hard to live.  I also ate tons of vegetables.  I also ate as much pasta as I wanted. (iow: I wasn't GF)

 

 

MTHFR can affect how you process nitrous gas.  Here's a link 

 

 

good point.  dudeling's ND was quite adamant he never get nitrous oxide.  it will affect methylation.  I had something happen after anesthesia one time, the drugs used were normal and used all the time.  but it completely messed me up and was the start of an ever increasing arc of a pendulum swing of brain chemistry.  I ended up on 18 months of an antidepressant just to stabilize.  I've had anesthesia without such effects, but in that case I think it was just the last straw and pushed me over the edge.  and yes, I can narrow it down to starting then.

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Methyl Tetra Hydra Folate Reductase (I could say the name before I would get the acronym in the right order.)

there are two common mutations - 677, and 1298 (the letters you sometimes see after or before the numbers refer specifically to the amino acid on the gene. it varies according to the mutation or lack thereof). it is thought about 50% of the population has some degree of the mutation. someone can have a single mutation (heterozygous); a double mutation (homozygous); be heterozygous for both (1 copy of each - often called compound); or even be homozygous (2 copies) for one and heterozygous (1 copy) for the other. which mutation, and how many mutated genes all affect how b vitamins are utilized for the methylation cycle.

 

diet makes a big deal in how they are affected. more green leafy veggies, and fish.

I'm the one who recommended the emerald labs b-complex. I'd been taking naturemade super b for several years. it was better than nothing, but I only ever noticed the benefit by it's absence. then I started learning about bioavailability and became pickier about quality. emerald labs .. . 7 - 10 days after I started taking it, I felt like someone had turned on a light switch.

 

there are increased tendencies for specific conditions associated with each mutation - but there can also be crossover.

 

Most drs really don't know much about this, though some do. naturopaths will be mostly likely to know the most.

 

dudeling had many challenges - among those I've sought help from for him is a naturopath who specializes in developmental disorders in children. adhd, asd, ocd, odd, etc. (mthf has a piece in all of them.) after my filling out the family history - one of the first things she did was have him tested. previously, I had never heard of it. he is heterozygous (one copy). I had another child tested - he is also hetero. my dd was tested by her provider - she is homozygous. (so, dh and I were both at least heterozygous). My own dr, a DO, had read about it and wanted to have me tested, since by then I knew I was at least hetero, I almost said no. I'm glad I didn't, as I am also homozygous. so, all of my kids are *at least* heterozygous. (she did NOT know enough to properly treat me. she immediately put me on 15mg of mthf. I knew you needed to ramp up or down to avoid side-effects and determine optimum doseage, but I took it anyway . . crime's its own punishment . . . . . I now take 1 - 2 mg of THORNE mthf, I do need to try ramping up again. dh ( heterozygous.) takes 5mg because that was the point where he felt better.

 

Not all supplements labeled "mthf" you will find for sale are the same - so stick with a high quality OTC - like THORNE (recommended by NDs). it comes in 1mg and 5mg. costs the same about everywhere. I order it off amazon as it can be harder to find. metafolin is rx only, and comes in 7.5mg or 15mg.

Thanks for sharing so much! I'm dealing with serious brain fog here......So, taking the Emerald Labs B vitamin along with a good multi wasn't enough? You need the THORNE mthf as well?

 

I did start the Emerald Lab B vitamin, so we will see what I feel like in a week or two.

 

I guess when my mind clears, I need to read some more. Maybe I'll ask my endocrinologist about possible testing for this. I will also mention this with my younger sister, she and her kids have man of these isues you mention.

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I also felt better when I stopped eating just about every single form of sugar (no lactose - milk, no fructose - fruit, no substitutes, no honey, no agave, etc.). nothing that contained sugar - bread. it took a month, but I could think clearly, and had tons of energy. it's very hard to live. I also ate tons of vegetables. I also ate as much pasta as I wanted. (iow: I wasn't GF)

Interesting.....I know sugar is bad for us in so many ways.

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I had fatigue so bad I couldn't get out of bed, even with about a dozen high quality supplements and my hypothyroid already treated. Some was my adrenal fatigue, but some was that I just wasn't processing b vitamins or even iron very well. I had consistently low blood levels despite massive supplementation and dietary intake. I was diagnosed after pregnancy - my liver enzymes were elevated and I was showing symptoms of mild toxicity. It just wasn't keeping up. It turns out the vitamins my body couldn't process were accruing in my tissues and poisoning me. Super, right?

 

There is more but I'm drawing a blank. Unfortunately with my adrenals issues I struggle with brain fog and it's bad right now - I've slacked off on my methylated B and glutamate and now I'm paying for it. I also overdid it yesterday. Whoops.

 

Thanks for sharing your story! It helps to know if I should pursue some testing. It sounds like most people have the best success with a ND.

 

Are you saying that the eleveated liver enzymes indicated that your body wasn't handling the vitamins being processed correctly? I had a specialist biopsy my liver years ago and still, no one knows why my liver functions are mildly elevated all the time.

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Thanks for sharing so much! I'm dealing with serious brain fog here......So, taking the Emerald Labs B vitamin along with a good multi wasn't enough? You need the THORNE mthf as well?

 

I did start the Emerald Lab B vitamin, so we will see what I feel like in a week or two.

 

I guess when my mind clears, I need to read some more. Maybe I'll ask my endocrinologist about possible testing for this. I will also mention this with my younger sister, she and her kids have man of these isues you mention.

 

yes - you probably need more mthf than the emerald labs contains.  you need to be able to adjust how much you receive to be able get the dosage that is right for you, as it varies from person to person.  you can only do that by taking it as a separate supplement.

my son takes 15 mg - and it definitely shows.  we've had him as high as 25 mg to see how he tolerated it.

I'm still playing with my dose.

 

My liver numbers used to have drs very concerned (some even did something about it), but last time my numbers were run, they were very good.

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I am homozygous on C677T. (I think that's how it's written ) ;) My lab work always showed I was near anemic, my vitamin D levels were terrible, I have Hashimoto's and migraines. I feel much better on supplements. (I take A LOT)

 

My testing also showed I have an inability to process cholesterol meds, so I know to avoid those in the future.

 

Someone mentioned tongue tie, and I really don't know what that is, but I carry the gene mutation for it as well.

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I am homozygous on C677T. (I think that's how it's written ) ;) My lab work always showed I was near anemic, my vitamin D levels were terrible, I have Hashimoto's and migraines. I feel much better on supplements. (I take A LOT)

 

My testing also showed I have an inability to process cholesterol meds, so I know to avoid those in the future.

 

red yeast rice.

 

I have a friend who has had recurrent miscarriages and then had a baby with a neural tube defect which was incompatible with life. I mentioned MTHFR to her--I don't think she has pursued testing at this point.

 

677 is linked to recurrent miscarriages.

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How does the testing help once you get the results?  Does the treatment differ or is it to have useful information?

 

The treatment can differ depending on the specific combination of mutations. For example, although the standard recommendation for treating MHTHR mutations is methylfolate, you must take it with (or after) a form of B12. Methylcobalamin is the form of B12 most often recommended, but certain other mutations can make a person "methyl-sensitve," in which case you want hydroxocobalamin or adenosylcobalamin, not the methyl form.

 

I learned this the hard way, after taking methylcobalamin — one of the listed side effects is "increased anxiety," but that really doesn't do it justice. I felt like I wanted to just crawl out of my skin and run far away. It was a really really awful sensation. Turns out that the other mutations I have (COMT ++ x 2 and VDRtaq ++) mean I need to take one of the other forms of B12, and start VERY slowly with that, then add the methyfolate. You also have to be careful when combining other foods and supplements that are also methyl donors, including caffeine, theanine, melatonin, choline, and others.

 

Mthfr.net is a good place to start looking for information. 

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Thanks for starting this thread. I have some of the same questions. I am currently waiting for 23andme to process my results but didn't know where to go from here.

I decided to get the tests after seeing another thread on here about mthfr and anxiety. I have horrific anxiety and panic disorder. I'be tried everything else and nothing has worked so I figured I should try this.

Reading through this thread has been interesting. I am thinking more and more that a mutation might be the cause of so many issues I have been having. It also makes me want to get my mom tested. She has elevated liver enzymes and Addison's and has been hospitalized twice in the past month.

Thanks everyone for sharing.

 

Sent from my 0PJA2 using Tapatalk

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Thanks for starting this thread. I have some of the same questions. I am currently waiting for 23andme to process my results but didn't know where to go from here.

I decided to get the tests after seeing another thread on here about mthfr and anxiety. I have horrific anxiety and panic disorder. I'be tried everything else and nothing has worked so I figured I should try this.

Reading through this thread has been interesting. I am thinking more and more that a mutation might be the cause of so many issues I have been having. It also makes me want to get my mom tested. She has elevated liver enzymes and Addison's and has been hospitalized twice in the past month.

Thanks everyone for sharing.

 

Sent from my 0PJA2 using Tapatalk

 

while 15mg MTHF helped dudelings anxiety - it certainly didn't eradicate it.  he still had anxiety that needed to be dealt with - just not as bad.

 

ashwanghanda by douglas laboratories.  it comes in 300 mg capsules only,  even at 2x per day, he was a different child.  his full dose is 4x per day.  he also takes barcopa (homo?naturals?) as they work together for antianxiety.

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I had DS and I tested due to depression, anxiety, and joint problems. I am homozygous for one mutation and DS is hetero for 2 mutations. We just switched to HomocysteX Plus, after trying a different supplement for a while without much improvement. Some people say it can take 4-6 weeks to see the full effect, so we'll wait and see how it goes.

I am curious if your regular medical Dr. performed this, or did you use a ND? I will keep a note of the vitamins you mentioned, in case I don't see a difference with those from Emeralds Lab.

 

Thanks for sharing!

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Is the MTHFR gene related to foggy brain!?! If so, I'm calling my dr this week to have that test done. I'm pretty sure I have some form of it, I've had 3 kids with midline defects. But the past few years my brain feels so foggy, it's crazy. I can't remember people's names, I forget things that I never used to forget etc...

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I am curious if your regular medical Dr. performed this, or did you use a ND? I will keep a note of the vitamins you mentioned, in case I don't see a difference with those from Emeralds Lab.

 

Thanks for sharing!

 

DS takes the HomocystexPlus, because he's not as methyl-sensitive as I am (slightly different mutations). HomocystexPlus includes methylcobalamin and adenosylcobalamin. I would definitely get the test and look at all the mutations, because you can actually make things worse if you take the wrong stuff for your particular combination of things.

 

I did the testing through Ancestry.com, but I've heard that the 23andMe test covers a couple of extra mutations, so I would recommend that one. Then when you get the data you can upload it to Genetic Genie. Genetic Genie even has a button that connects to 23andme. Then you get a report that lists different mutations and shows whether you are homozygous, heterozygous, or lack the mutation.

 

After you know your particular set of mutations, then you need to start researching the best supplements for that combo. This part gets really really confusing! I'm still confused about so many things, but I figure the more i keep reading and researching the more it will start to make sense.

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Is the MTHFR gene related to foggy brain!?! If so, I'm calling my dr this week to have that test done. I'm pretty sure I have some form of it, I've had 3 kids with midline defects. But the past few years my brain feels so foggy, it's crazy. I can't remember people's names, I forget things that I never used to forget etc...

 

It's just a saliva test, you can do it yourself for $99 from 23andMe. Takes a few weeks to get the results.

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I am curious if your regular medical Dr. performed this, or did you use a ND? I will keep a note of the vitamins you mentioned, in case I don't see a difference with those from Emeralds Lab.

 

Thanks for sharing!

 

most any vitamin that uses the most bioavailable forms of the vitamins should be beneficial.  you can learn to read the labels and which are the most bioavailable forms.

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23andMe has removed about 6 SNP's from their testing.  You can find out which ones on Genetic Genie.

 

Hmmm... interesting. These are the six they removed:

 

  • MTRR H595Y (rs10380)
  • MTRR R415T (rs2287780)
  • BHMT-04 (rs617219)
  • AHCY-02 (rs819134)
  • CBS N212N (rs2298758)
  • SHMT1 C1420T (rs1979277)

 

The three in bold are still covered by the Ancestry.com test (or at least they were when I did it a few months ago); the other three are not. I don't know anything about the bolded mutations though, as DS and I are both -/- for those.

 

There were 9 "blanks" on the Genetic Genie printout indicating mutations not tested for by the Ancestry test. Maybe someone who has done the 23andMe test recently can post how many blank slots they had?

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We did 23andme in April.  The Genetic Genie report includes "no call" for the following:

 

MTRR H595Y  rs10380

MTRR R415T  rs2287780

BHMT-04  rs617219

AHCY-02  rs819134

CBS A360A  rs1801181

CBS N212N  rs 2298758

SHMT1 C1420T  rs1979277

 

I don't know the significance of them except that CBS mutations have something to do with processing sulfur.  There is one other CBS mutation for which there is a call.

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I only found out after my order was placed and I was looking around on Genetic Gene.  Can anyone tell me how many SNP's they test?

 

Some of those removed are related to Yasko Methylation.  You can look them all up on SNPedia. If one tested for MTHFR mutations then there might be some impact on b12 levels based on the results, but because b12 dosing is usually based on symptoms I'm not sure that they have any direct impact in treatment.

 

I think that if one tested positive using these tests that one could/should be following up with a medical doctor who would then order any additional testing necessary.  For me they will be a starting point since my insurance will not cover the genetic testing that my physician is requesting, and it's not something I can afford unless there is a propelling reason to.

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My sister found out after she had several miscarriages. Her dr. treated her during her next pregnancy with lots of folate and blood thinners. Her little boy was fine - actually, he is brilliant (due to meds?) I was tested too, even though I never had a miscarriage. I have it, but I can't remember the specifics. I've had some health issues and wonder if it's due to this mutation (premature menopause at 37, trouble with high blood sugar, joints are constantly popping, mild depression and anxiety).

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The treatment can differ depending on the specific combination of mutations. For example, although the standard recommendation for treating MHTHR mutations is methylfolate, you must take it with (or after) a form of B12. Methylcobalamin is the form of B12 most often recommended, but certain other mutations can make a person "methyl-sensitve," in which case you want hydroxocobalamin or adenosylcobalamin, not the methyl form.

 

I learned this the hard way, after taking methylcobalamin — one of the listed side effects is "increased anxiety," but that really doesn't do it justice. I felt like I wanted to just crawl out of my skin and run far away. It was a really really awful sensation. Turns out that the other mutations I have (COMT ++ x 2 and VDRtaq ++) mean I need to take one of the other forms of B12, and start VERY slowly with that, then add the methyfolate. You also have to be careful when combining other foods and supplements that are also methyl donors, including caffeine, theanine, melatonin, choline, and others.

 

Mthfr.net is a good place to start looking for information. 

I have Homozygous: 

MTHFR A1298C

COMT V158M

COMT H62H

 

And Heterozygous for the VDRs

I didn't see that about the type of B12.  I'll have to check into that.  Thanks!

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