Got 23andMe results, ran through GeneticGenie... Now what??

[EMilo]

Hi everyone,

Based on a methylation blood test from Health Diagnostics and Research Institute/ European Laboratory of Nutrients, my doctor told me I had an MTHFR gene mutation. I don't see where it says that on the report, but the report does say I'm low in everything (reduced glutathione, S-Adenosylmethionine, S-Adenosylhomocysteine, all the folic acid derivitives).

Then, yesterday, I got my 23andMe results. I ran them through GeneticGenie and it says I have no MTHFR mutations. I'm not sure where to go from here. For the past month I was researching Yasko/Rich VanK etc., taking nothing, waiting for the results, so I could start supplements in the correct order.

If GeneticGenie says there are no MTHFR mutations, do I NOT do the methylation protocol? What about the blood test from my doctor showing low glutathione? He thinks I should supplement with methylfolate and methylB12, but I haven't seen a doctor yet that knows anything about ME/CFS, so I'm hesitant to trust what they tell me to do.

Are there other gene mutations I can tackle? I'm such a novice and so, so sick... I could really use some help! Thank you.

 

[Soundthealarm21]

What about all of your other results? What else did genetic genie tell you?

If a highly professional test tells you that you have an MTHFR mutation then I would take their word over 23andMe personally.

 

[SOC]

Based on a methylation blood test from Health Diagnostics and Research Institute/ European Laboratory of Nutrients, my doctor told me I had an MTHFR gene mutation.

I imagine your doctor was making an educated guess based on your nutrient tests and symptoms that you have an MTHFR mutation. It appears, however, that you don't based on actual genetic testing. I don't think that means that you don't have some methylation problems. For example, do you have MTR, VDR, CBS, BHMT mutations?

Perhaps if you listed your red- and yellow-marked SNPs here, someone could give you some suggestions about what might be causing you problems. You could then take that more specific info to your doc and see what he says.

 

[EMilo]

@SOC and @Soundthealarm21 , yes, thank you! Let me post what it did say. My brain is such mush, I am in tears. I had a bad syncope episode last night and almost went to the ER, I just need to do something to stablise! @SOC , I bet you're right about my doc making a guess based on how low all my folic acid stuff was in that test.

Ok, I'm not sure what info people need, but here goes:

Methylation Analysis Results
Red +/+ =
VDR Taq
MAO A R297R
AHCY-01
AHCY-19

Yellow +/- =
COMT V158M
COMT H62H
MTRR A66G
BHMT-02
BHMT-08
CBS A360A

Detox Profile Results
Red +/+ =
CYP2C9*2 C430T
CYP2D6 S486T

Yellow +/- =
CYP1A2 164A>C
CYP1B1 R48G
CYP2D6 100C>T
CYP2D6 2850C>T
NAT2 I114T
NAT2 K268R

I'm sorry if that's too much information. I don't know what to look for. THANK YOU SO MUCH!!!

 

[EMilo]

Are there other programs I should run my raw data through?

 

[SOC]

Are there other programs I should run my raw data through?

You've made a good start. I imagine you'll want to sort out the info you have before digging up more. You could check with @Valentijn about running your 23andme raw data through her rare alleles program if you want more info to stew over.

I'm an ignoramus about methylation stuff, but there are a number of gurus here. Hopefully one will show up here and give you some assistance. In the meantime, you could check out the heartfixer website. Scroll down and click on your known mutation snps to learn more. I'm in a cognitive crash at the moment so heartfixer makes my brain explode, but it seems to be helping a lot of people understand their mutation snps and what you might do.

@caledonia has a bunch of other informative links in her signature if you want to do some more digging.

BTW, about the syncope -- are you in treatment for OI/POTS? If not, you might want to look into it. It might give you a huge quality of life improvement if you're currently having bad syncope episodes.

 

[EMilo]

@SOC thank you again. I am bedbound and my brain also feels like it might explode, so I forwarded the heartfixer website to my husband and maybe he'll have time to look at it after he works, cooks, cleans, listens to me cry etc.
I'll also get it touch with Caledonia- poor thing must be in high demand!

Re OI/POTS, I have increased my salt and electrolytes and fluids and I wear compression stockings if I'm not lying down, nothing seems to help. I have a history of vasovagal syncope on the first day of my period- ER, iv fluids, very low BP and HR, loss of consciousness. Recently, I've thought perhaps it is early stage anaphylaxis (I have a history of idiopathic anaphylaxis, histamine intolerance and presumed mast cell activation), so it's scaring me. I did everything right yesterday- Tylenol, fluids, bed, but I still went down. Didn't lose consciousness and managed to stay out of the ER, but it is scary when your BP and HR are that low for that long. It also comes with diarrhea, sore-er throat than usual, shakes, sweats, muscles ceasing to work.... No doctor has been able to help except to tell me to eat salt.

Thank you so much for your help,I appreciate it more than you know!

 

[EMilo]

@caledonia I know you're probably in high demand for your genetic knowledge, but, if you could help me with the 23andMe results above, I would be very grateful!

I assumed I would have MTHFR mutations, so, since I don't, I want to make sure I approach treatment in the right way for what mutations I DO have.

Thank you!

 

[SOC]

@SOC
Re OI/POTS, I have increased my salt and electrolytes and fluids and I wear compression stockings if I'm not lying down, nothing seems to help. I have a history of vasovagal syncope on the first day of my period- ER, iv fluids, very low BP and HR, loss of consciousness. Recently, I've thought perhaps it is early stage anaphylaxis (I have a history of idiopathic anaphylaxis, histamine intolerance and presumed mast cell activation), so it's scaring me. I did everything right yesterday- Tylenol, fluids, bed, but I still went down. Didn't lose consciousness and managed to stay out of the ER, but it is scary when your BP and HR are that low for that long. It also comes with diarrhea, sore-er throat than usual, shakes, sweats, muscles ceasing to work.... No doctor has been able to help except to tell me to eat salt.

Thank you so much for your help,I appreciate it more than you know!

Salt, electrolytes, and compression stockings didn't do anything for me until I got Florinef. I don't have blood pooling, so compression socks weren't much help. The salt and electrolytes alone weren't enough to compensate for my low blood volume. Florinef was a BIG help to both my daughter and myself.

Years ago, my GP informally diagnosed me with idiopathic anaphylaxis (didn't want to put it in my record because it's not an "evidence-based" diagnosis). It turned out that I have OI from low blood volume, and I hyper-react to vasodilators, so when I encountered a vasodilator (they're everywhere), my BP would drop a lot and I'd get the whole dizzy, shakes, sweats, severe headache, nausea, very low BP, pre-syncope thing. Fortunately, I managed to avoid fainting all but a couple of times. Florinef changed all that. Haven't had an episode since and can be upright LOTS more than I could pre-Florinef. Worth checking into if you haven't already.

 

[Soundthealarm21]

In my personal opinion (it comes straight from my doctor), the first thing that needs to be addressed is your BHMT mutations.

How is your diet? Do you eat grains, gluten, dairy, sugar, processed foods, high carbs?

 

[Critterina]

@EMilo ,

The MTRR A66G affects methylation significantly. While MTHFR C667T affects (slows down) the production of methylfolate, MTRR affects (slows down) the use of methylfolate to methylate homocysteine. I take methylB12 (methylcobalamin) to remedy this in myself, but other people who have trouble with methylB12 often have good luck with hydroxyB12.

BHMT 08 also affects (slows down) the secondary pathway for methylating homocysteine. I also have this mutation, and I take TMG to remedy it.

A few thoughts:
1. If you chose to supplement with either methylB12 or TMG, don't try both at once.
2. If you start using one of the B12s, it may deplete what methylfolate you do have, so supplementing with methylfolate is something to consider - you may even want to try some to make sure you tolerate it and then try adding the B12.
3. Start with a small amount of whatever you try, and work your way up.

I'm no guru, but maybe these thoughts will give your and your sweetie some place to start. Best health to you!

 

[Valentijn]

Are there other programs I should run my raw data through?

I have a program at http://sourceforge.net/projects/analyzemygenes/ which can be downloaded and run to look for your super rare genotypes. There's also a less-rare 10% database at http://sourceforge.net/projects/analyzemygenes/files/Databases/ which can be used to get a bigger list of rare homozygous mutations.

If there's any problems using the program (cognitive difficulties, a Mac, etc), you can email me your 23andMe file and I can run it for you and send you the results and some data on the rarest mutations that turn up.

 

[EMilo]

In my personal opinion (it comes straight from my doctor), the first thing that needs to be addressed is your BHMT mutations.

How is your diet? Do you eat grains, gluten, dairy, sugar, processed foods, high carbs?

Thank you for your help! I will look into the BHMT, I know nothing about this stuff.

My diet is a work in progress. I have not touched gluten, dairy, eggs, potatoes or tomatoes in 21 months. I eliminated all grains but oats for 9 months. I haven't touched soy, all nightshades, or citrus in about 3 months and have been on a low-histamine diet, also. I am currently gearing up to eliminate oats, rice, nuts, and seeds to see if it makes a difference. This last task seems monumentally overwhelming compared to all my other eliminations. I also would like to get rid of the small bit of sugar I eat (coconut sugar, maple syrup and brown rice syrup in a few recipes).

 

[SOC]

Thank you for your help! I will look into the BHMT, I know nothing about this stuff.

My diet is a work in progress. I have not touched gluten, dairy, eggs, potatoes or tomatoes in 21 months. I eliminated all grains but oats for 9 months. I haven't touched soy, all nightshades, or citrus in about 3 months and have been on a low-histamine diet, also. I am currently gearing up to eliminate oats, rice, nuts, and seeds to see if it makes a difference. This last task seems monumentally overwhelming compared to all my other eliminations. I also would like to get rid of the small bit of sugar I eat (coconut sugar, maple syrup and brown rice syrup in a few recipes).

Yikes! It must be a lot of work to make sure you get a nutritionally balanced diet with all those restrictions.

 

[EMilo]

@Critterina , thank you very much! You actually pretty much said what my doctor (whom I didn't trust) said, only you explained it better. He never saw my 23andME results, but, based on my methylation blood test, he said to supplement with methylB12 and methlyfolate.

I don't know what TMG is, I'll have to look into that. Thank you!

Here are the results from that methylation test from Health Diagnostics and Research Institute:

Glutathione (oxidised) 0.30 (0.16-0.50)
Glutathione (reduced) 3.2 (3.8-5.5)
S-Adenosylmethionine 219 (221-256)
S-Adenosylhomocysteine 37.7 (38-49)

Folic Acid derivitives:
5-CH3-THF 10.7 (8.4-72.6) (Doctor thought this was low)
10-Formyl-THF 1.8 (1.5-8.2) (Doctor thought this was low)
5-Formyl-THF 1.0 (1.2-11.7)
THF 0.63 (0.6-6.8)
Folic Acid 9.7 (8.9-24.6)
Folinic Acid 7.0 (9-35.5)
Active folate 358 (400-1500)

Adenosine: 20.8 (16.8-21.4)

 

[EMilo]

Yikes! It must be a lot of work to make sure you get a nutritionally balanced diet with all those restrictions.

Honestly, it has been a nightmare. It was FINE until the low-histamine part. That is awful. No leftovers? When I'm too sick to stand up? But I have had two tests over the last few years that show quite bad gut dysbiosis (no good bacteria), so I'm trying so hard to remedy that. Plus, I have reactions (anaphylactoid episodes) to things that I can't seem to identify, so I;m trying to go very basic and build up from there. The diet part is overwhelming me more than the ME symptoms at this stage. I have always eaten whatever I want and as much as I want and been thin and felt fine... until that fateful day that I got sick.

 

[EMilo]

@Valentijn , thank you! I can't download programs on this laptop, but, when I make it into our basement again, I will try on the desktop computer. I'll keep you posted.

PS: how are people so clever that they can create these programs?? You amaze me!

 

[Sea]

Thank you for your help! I will look into the BHMT, I know nothing about this stuff.

My diet is a work in progress. I have not touched gluten, dairy, eggs, potatoes or tomatoes in 21 months. I eliminated all grains but oats for 9 months. I haven't touched soy, all nightshades, or citrus in about 3 months and have been on a low-histamine diet, also. I am currently gearing up to eliminate oats, rice, nuts, and seeds to see if it makes a difference.

Are the oats that you're eating certified gluten free? Most oats are contaminated with gluten due to shared growing fields, farm equipment, transport, storage and or processing.

Even oats that are certified gluten free can be problematic for some people who have problems with gluten. The protein in oats is similar to gluten and some people (around 1 in 5 celiacs) react to it in the same way as gluten

 

[Soundthealarm21]

Yikes! It must be a lot of work to make sure you get a nutritionally balanced diet with all those restrictions.

Is there a specific reason you stopped eating eggs? You should be eating lots of eggs unless you have some sort of a problem with them.

To support BHMT and cell membranes your diet needs to consist of high fat and high protein with a lot of leafy greens and vegetables.

The BHMT pathway is where your body makes phosphatidylcholine which makes up half of your cell membranes. You can support this pathway by taking things such as phosphatidylcholine, inositol, high fat foods (Good fat, Omega 6 and 3), eggs, TMG (I have not yet tried this supplement so I have no experience with it).

I would also be hitting the probiotics and digestive enzymes hard if you're not already doing it. It's important to repair your gut. I don't have any of your tests in front of me, but my assumption (note it is only an assumption) is that you probably have renegade Very Long Chain Fatty Acids (VLCFAs), and a way to help clear those out is by taking Butyric Acid which is a Short Chain Fatty Acid (SCFA).

Anymore questions i'll be happy to help. I'm just into this myself and have already made amazing progress. I was able to drive, by myself, to the store for the first time in 3 months.

 

[EMilo]

Are the oats that you're eating certified gluten free? Most oats are contaminated with gluten due to shared growing fields, farm equipment, transport, storage and or processing.

Even oats that are certified gluten free can be problematic for some people who have problems with gluten. The protein in oats is similar to gluten and some people (around 1 in 5 celiacs) react to it in the same way as gluten

Yes, I've only ever eaten Bob's GF oats, but, honestly, I don't think I ever had a problem with gluten or ANY food... no elimination or change in eating habit has changed the way I feel or made any symptoms better.