Talk to me about MTHFR, Promethease results.

[dsmith]

I uploaded my Ancestry DNA data to Promethease, and it came back with the results below, among other stuff. I have been hearing a lot about MTHFR but I really don't understand it, so I thought I would come here and ask what I should do about these results. I have heard it mentioned in relation to autoimmune diseases, and I have Hashimoto's and MS. Any thoughts, websites, etc. would be appreciated. :001_smile:

 

 

 

 

MTHFR polymorphisms affecting homocysteine You have a combination of 2 SNP variations in MTHFR which influence homocysteine levels. This is found in ~20% of people. 0.08% of people had a double copy of a mutation in one of the SNPs, and a single mutation in the other. [] . gs193 indicates double mutations in both snps, and people with this are believed to be critically impacted, however several promethease users have self reported this genotype with no apparent consequences.
• rs1801131 is at position 1298
• rs1801133 is at position 677

 

1 copy of C677T allele of MTHFR = 65% efficiency in processing folic acid It is found in approximately

• 48% of Hispanic Americans
• 45% of Caucasian Americans
• 45% of Japanese
• 37% of Germans
• 29% of Asians
• 24% of African Americans
• 12% of Sub-Saharan Africans

 

Possibly impaired folate metabolism MTHFR rs1801131 © or MTHFR A1298C is a mutation in the folate pathway, specifically in the enzyme involved in converting 5-methylfolate (5MTHF) to tetrahydrofolate (THF). Defects in folate metabolism can increase the risk of neural tube defects and possibly contribute to risk of stroke / heart attack. Unlike rs1801133 or MTHFR C677T, this mutation does not lead to elevated homocysteine levels, however some studies have suggested that there may be a synergistic effect in individuals heterozygous for both mutations.

[Liz CA]

Check out Dr. Ben Lynch's website. He is an expert in MTHFR.  http://mthfr.net/author/drben/

[wapiti]

You are compound heterozygous, along with about ten percent of the population, IIRC.  Two of my kids are also compound heterozygous.

 

Try to avoid folic acid (synthetic folate that you may not process well); it is in nearly every non-organic food that contains processed wheat flour.  It is even in many brands of rice.  Non-organic cereals are the worst, with huge amounts, sometimes 50% of the RDA.

 

I would not use cyanocobalamin for a B12 supplement.  It is very complicated and we haven't really found a good supplement plan yet.  Do not assume methylcobalamin is what you will need, though it may be.  Hydroxycobalamin is another option and may be easier to tolerate.  Dose is hard to figure out; same also for supplementing 5-MTHF (methylfolate).  Lots of trial and error!

 

Another interesting site:  http://www.heartfixer.com/AMRI-Nutrigenomics.htm

 

See if you can upload your results into http://geneticgenie.org like you can with 23andme - not sure whether genetic genie accepts ancestry.com results.  There are a number of other polymorphisms that are good to know about.

[dsmith]

I guess it's a good thing that I am now gluten free! I do eat small amounts of organic brown or wild rice. I haven't been supplementing with B12 yet. I've been slowly adding supplements recommended in the Wahls Protocol and haven't made it to B12 yet. I did have my levels tested but the doctor didn't share the results with me. The coconut milk I drink does have it added, so I will check what type. Did you have your kid's homocysteine levels checked? I'm wondering if I should do that, and try to get the B12 number from my neurologist's office.

 

 

You are compound heterozygous, along with about ten percent of the population, IIRC.  Two of my kids are also compound heterozygous.

 

Try to avoid folic acid (synthetic folate that you may not process well); it is in nearly every non-organic food that contains processed wheat flour.  It is even in many brands of rice.  Non-organic cereals are the worst, with huge amounts, sometimes 50% of the RDA.

 

I would not use cyanocobalamin for a B12 supplement.  It is very complicated and we haven't really found a good supplement plan yet.  Do not assume methylcobalamin is what you will need, though it may be.  Hydroxycobalamin is another option and may be easier to tolerate.  Dose is hard to figure out; same also for supplementing 5-MTHF (methylfolate).  Lots of trial and error!

 

Another interesting site:  http://www.heartfixer.com/AMRI-Nutrigenomics.htm

 

See if you can upload your results into http://geneticgenie.org like you can with 23andme - not sure whether genetic genie accepts ancestry.com results.  There are a number of other polymorphisms that are good to know about.

 

[Katy]

I have the same thing, as well as a third defect on the same gene that hasn't been widely studied but is thought to compound the effect.  This is probably partially why women in my family have been known to have fatal heart attacks before menopause. I take Thorne Prenatal multivitamins that I typically buy from Amazon.  I have no affiliation with either company, the Thorne seemed to fit my needs best and the best price I can typically find is Amazon. Sometimes I try to get 95% of needs met through real foods (lots of beans and greens for folate), and I track that using the free version of CRON online.  I find that easier to do when it's not summer though, in the summer I tend towards more junk food and vitamins.

 

I do encourage you to schedule a physical and ask for typical heart blood workup to see what's going on before you change anything.  I know I was doing much better when I tended towards a low fat vegetarian diet than I was doing low carb, which is not true of everyone. Ultimately you may find that what works best to get your numbers into an ideal range may be different than other people.

 

I tend to think mthfr.net isn't very good.  I like Dr Amy Yasko better, though she focuses on autism and you have to wade through that to find the good information. http://www.dramyyasko.com/our-unique-approach/methylation-cycle/

[dsmith]

Well, I do have a son on the spectrum, so maybe I will check out that stuff, too. I wonder if I should get his DNA tested - I do have an extra kit here. Thanks for the link and suggestions. I completely changed my diet when I was diagnosed with MS. I do a moderate carb diet with a lot of veggies and fruits. I found that too much protein makes me feel unwell, and one of the other things that came up on the report was some kind of problem with high protein diets. I forgot the exact wording, but I thought it was interesting. I would like a full cardiac workup anyway. Quite a few of the items on the report were higher stroke risk. That's a bit scary!!

 

 

I tend to think mthfr.net isn't very good.  I like Dr Amy Yasko better, though she focuses on autism and you have to wade through that to find the good information. http://www.dramyyasko.com/our-unique-approach/methylation-cycle/

 

[Katy]

Well, I do have a son on the spectrum, so maybe I will check out that stuff, too. I wonder if I should get his DNA tested - I do have an extra kit here. Thanks for the link and suggestions. I completely changed my diet when I was diagnosed with MS. I do a moderate carb diet with a lot of veggies and fruits. I found that too much protein makes me feel unwell, and one of the other things that came up on the report was some kind of problem with high protein diets. I forgot the exact wording, but I thought it was interesting. I would like a full cardiac workup anyway. Quite a few of the items on the report were higher stroke risk. That's a bit scary!!

 

Yep, I have the protein thing too.  You might want to look into Urea Cycle disorders.  This is a good site:  http://www.nucdf.org

[Liz CA]

Can I ask you what Promethease is / does exactly? Can you upload DNA findings from various sources? Dh had a DNA analysis done by a company other than Ancestry.com.

Feel free to PM if you would rather discuss privately.

[gardenmom5]

it sounds like you do have 677,, and possible 1298.  that's a bad combo, as neither pathway is working fully.   it's like a double whammy. 677 will often lead to higher homocystine levels.

 

stay away from folic acid.  (they put it in everything.)

those with mthf - have a very difficult time actually being able to use it - and it can BLOCK dietary folate (re: the good stuff) from being absorbed.

 

mthf.net has a lot of good information, but I also have to take somethings he says with a grain of salt.  (he will dis thorne, and imply falsehoods while doing so . . well, thorne is a competitor.  he's sellling his own supplements. every other ND i've ever spoken with, prefers thorne above almost everything else.)

 

I've met the guy - and he's devoted a lot of time to research on the subject.  there's more research out there on 677.

my OD is homozygous 677, and had a number of issues that only finally improved after she started taking thorne/compounded comparable (deplin is the rx- I was ecstatic to find a compounding pharmacy that sources from the same place as thorne.  and I can feel the difference over deplin)

when she got on the mthf - her homocystine levels dropped - and her d3 level climbed.  without doing anything else.

[Katy]

<snip>

when she got on the mthf - her homocystine levels dropped - and her d3 level climbed.  without doing anything else.

 

Do you mind sharing details?  What it was, what the drop was, what she was taking, how long it took to see a difference, if she has any different symptoms? Side effects?  Other changes such as changing diet/macro levels?

[dsmith]

I'm definitely going to check everything I eat. Nowadays I eat very little processed foods and a lot of foods that contain dietary folate. I'm really thinking of having my son tested, though. His diet is probably very heavy in folic acid - he eats a lot of wheat-containing foods, processed foods, etc. I've been trying to get him to go gluten free and eat healthier, but he is very resistant. I really think it may help with his anxiety and other issues. He has a lot of sensory issues with foods, so it's a battle.

 

 

it sounds like you do have 677,, and possible 1298.  that's a bad combo, as neither pathway is working fully.   it's like a double whammy. 677 will often lead to higher homocystine levels.

 

stay away from folic acid.  (they put it in everything.)

those with mthf - have a very difficult time actually being able to use it - and it can BLOCK dietary folate (re: the good stuff) from being absorbed.

 

 

[dsmith]

From what I can tell, it generates a report from your raw DNA data which will tell you if you have a risk for certain diseases, may have issues with certain medications, probability of having certain eye colors, have increased risk for obesity, etc. I kept hearing about the MTHFR mutation on various sites, so I figured it was worth the $5 it cost to analyze my data. Trying to support my body through good eating choices while fighting a chronic disease was definitely a factor in my decision to try the site. They handle data from a lot of providers, so it may be worth checking out. If you are the type to get extremely nervous about things like this it may be better to stay away. A few years ago I probably would have been a nervous wreck after reading the report. Before I knew what was making me feel like crap I was convinced I had every disease that came even the tiniest bit close to fitting my symptoms. 

 

 

Can I ask you what Promethease is / does exactly? Can you upload DNA findings from various sources? Dh had a DNA analysis done by a company other than Ancestry.com.

Feel free to PM if you would rather discuss privately.

 

[gardenmom5]

Do you mind sharing details?  What it was, what the drop was, what she was taking, how long it took to see a difference, if she has any different symptoms? Side effects?  Other changes such as changing diet/macro levels?

 

I don't understand the question.

 

she started taking an appropriate for her dose of mthf.  her homocysteine levels dropped by themselves.  it's common for those with 677 to have high homocysteine levels.

she'd also been trying to raise her d3 level - but it wouldn't budge.  it was around 10.  she didn't change anything but add in the mthf (thorne quality - not Deplin) and the next time she was tested, her levels were >30 and climbing.

 

I'm homozygous 1298-  I take mthf.  I've seen stuff linked to it in my mother's family.  knee replacements, tias/vascular, asd (one genetic link), mental illness

tias scare me more than anything.  some women are petrified of breast cancer.  I'm petrified of tias. my mother and grandmother both had them, and they're linked to 1298.