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Newbie Help Please w/SNPs?

Discussion in 'Genetic Testing and SNPs' started by Wendi C, Dec 27, 2013.

  1. Wendi C

    Wendi C

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    New Mexico
    I ran these through Genetic Genie and Promethease (too much info on that one). Any immediate things to note?

    COMT V158Mrs4680AA+/+
    COMT H62Hrs4633TT+/+
    VDR Bsmrs1544410TT+/+
    MAO A R297Rrs6323TT+/+
    MTHFR C677Trs1801133AG+/-
    MTHFR A1298C rs1801131 GT+/-
    MTRR A66Grs1801394AG+/-
    MTRR R415Trs2287780CT+/-
    MTRR A664Ars1802059AG+/-
    BHMT-02rs567754CT+/-
    BHMT-04rs617219AC+/-
    BHMT-08rs651852CT+/-
    CBS A360Ars1801181AG+/-
    SHMT1 C1420Trs1979277AG+/-
  2. Wendi C

    Wendi C

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    New Mexico
    Oh! Forgot to add Detox stuff:

    CYP1B1 L432Vrs1056836GG
    +/+

    CYP1B1 N453Srs1800440CT
    +/-

    CYP2C19*17rs12248560TT
    +/+

    GSTP1 I105Vrs1695AG
    +/-.

    SOD2 A16Vrs4880GG
    +/+

    NAT2 I114Trs1801280CT
    +/-

    NAT2 K268Rrs1208AG+/-
  3. Critterina

    Critterina Senior Member

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    Arizona, USA
    Wendi,
    My first two impressions are:

    1. That you're COMT and MAO A mean you may have trouble with neurotransmitters, so you may be sensitive to some parts of the methylation protocols. For you more than for many, you'll probably want to start with low, low doses and increase gradually, if you choose to follow a protocol. and...

    2. That your compound hetero for MTHFR C677T and A1298C, plus the SHMT hetero, which appears to be more of a problem when combined with the C677T. So you will probably want to supplement with methylfolate (and not folinic acid or folic acid).

    If I were you (and I'm not, so take it for what it's worth - only an opinion) I would see how I react to methylfolate, and after a while (maybe a few weeks) add some B12. For the B12, I would probably vacillate during those few weeks as to whether I would try methylcobalamin (a.k.a. methylB12, or MB12) or hydroxycobalamin. During that time, you can read all about that stuff in this forum and make your own opinions.

    Not knowing anything else about your symptoms (depression, anxiety, fatigue, brain fog, etc.) or lab results (amino acid panel, vitamin D status, homocysteine, etc.) I wouldn't venture to go any farther.

    Best health to you!
  4. helen1

    helen1 Senior Member

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    B.C., Canada
    I would try the methylcobalamin first in tiny amounts to see how you handle it. I found I was fine when I titrated up very carefully, but not otherwise. You need to have B12 in place to support methylfolate. Adequate levels of b12 are needed to keep folate in cells where you want it. If they leak out, they can cause neurological damage. Rich V has posted about this several times.
    I would say quite a few people here may have had nerve damage from folate use without high enough B12 levels. freddd has posted about his own and other's nerve damage fairly extensively.
    Crux likes this.
  5. Wendi C

    Wendi C

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    New Mexico
    Thanks, @helen1 and @Critterina! - I truly appreciate your time!

    I've had CFS for over 20 years beginning with a viral episode. My main symptoms are fatigue especially post-excursion, brain fog, sleep disturbances, tachycardia, anxiety, easily stressed, adrenal insufficiency and I easily catch anything.

    I actually tolerate B12 very well. Used to take it in shots; the methyl form. I also handle folinic acid just fine. I did try the Simplified Protocol some years back for a lengthy period with NO results. The best and thus far only thing I've tried that has worked has been eliminating candida and LDN; generally getting the gut to work better.

    Right now, per my last OAT I'm now taking some methylfolate (per my MD) , B2 as well as Yasko's B12 drops. My Vit D is good as take 10,000iu/day. I'm also taking Byron White's Epstein Barr/HHV6 formula LOW and SLOW. My response was AWFUL in the first few days of taking it and am still at only 2.5 drops/day after weeks of taking it. I am also detoxing metals with HMD and about to start Chelex. So far so good there.

    My general amino acid profile shows a need for supplementing so I'm taking the Master MAP formula.

    My neurotransmitter portion on the OAT always shows serotonin low. That I know for sure.

    My MD is phenomenal and I'll have an appointment soon with him, but I think his knowledge in SNPs is not as good as others. Maybe not as good as some of you here! :)
  6. caledonia

    caledonia

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    Cincinnati, OH, USA
    You have two First Priority mutations - CBS and SHMT. The CBS is the minor one. Just about nobody needs to treat for CBS if they have that one. However, you also have several BHMTs, which can also add to CBS, so it's a "maybe" if CBS treatment would be needed. However, you seem to be tolerating methyl supplements well, so CBS is probably not a problem.

    The next one is SHMT. For SHMT you take folinic acid. This helps the folate cycle make DNA and RNA bases. SHMT is also one of the "leaky gut genes". You may need to treat SHMT while treating the gut to be successful with gut treatment. You report gut problems and Rich's SMP having NO effect. This could be due to the gut not absorbing nutrients.

    Now that you've improved your gut, things should be better this time around.

    Then you have MTHFR C677T and A1298C, so some methylfolate for that.

    You have several MTRRs (B12 recycling), so some B12 for that. With your COMT/VDR combination, you have the most sensitive combination. Yasko suggests mostly hydroxcobalamin. You report doing ok with methylcobalamin shots. Based on your SNPs, you should be jumping off the ceiling with mood swings! I'm not exactly sure what's going on there - it's hard to tell the timing of things, amounts and so forth from your description.

    For BHMT, take lecithin to produce TMG and get the secondary methylation pathway going.

    For VDR Bsm, you're already supplementing vit. D, so you're good there.

    For MAO A, Yasko suggests sprinkles of 5htp, only after the rest of the pathway is supported and if you're still having mental health type problems. This is contraindicated if you're on an SSRI/SNRI.

    Killing bad gut bugs and getting methylation going will detox metals in and of themselves. There's no need, and it could actually be too much to add other metal detoxifiers on top of this.

    You should have some nicotinic acid on hand in case your COMT mutation starts acting up. See the Start Low and Go Slow document in my signature.

    Also one other thought - if you're not getting a response once again. You could be one of those people who require very high amounts of methylfolate - like grams instead of mg. I'm not sure what this is due to - either gut issues or FOLR mutations is my guess right now.

    One other idea is a MAT mutation, which would block production of SAMe. So some direct SAMe supplementation would be indicated in that situation.
  7. caledonia

    caledonia

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    Cincinnati, OH, USA
    CYP1B1 - estrogen dominance possibly causing estrogen related cancers (breast, etc.). Eat cruciferous veggies, or take DIM, IC3 or calcium deglucarate.

    CYP2C19 - trouble detoxifying certain drugs

    GSTP - affects glutathione on top of your methylation cycle block affecting glutathione. So sort of a glutathione "double whammy".

    SOD2 - oxidative stress and affects the mitos. You can try mito support supps and a GliSODin supp.

    The NATs detoxify smoke and car exhaust, so stay away from those.

    There is more detailed info in my signature links.
  8. Wendi C

    Wendi C

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    New Mexico
    Thanks @caledonia!

    I took SAMe once and it gave me HORRIBLE headaches like I've never experienced. Dropped that stuff quick.

    Tons of info to sort out. I take DIM daily as it seems to make a huge difference; however, when I'm on a strict clean diet like Paleo, I don't need it as much. When I cheat, eat sweets, I can tell I need it. I feel it affects my female cycle big time.

    Oddly, I'm pretty mellow, even keeled WHEN I stick strictly to my diet; otherwise, I will have bad PMS mood swings (attributed to the estrogen issue). After my menses comes, I do hit a low. So low that I can't muster the energy off the couch. I don't really care if anything good or bad happens. It's like most of myself is missing, until around day 4 when hormone levels start up again. I always tell my MD, if he could only make feel like I did when I was pregnant, I would feel as if I hit the health lotto. I had COMPLETE cessation of all symptoms and felt AMAZING! Everything disappeared, but slowly came back after my sons birth. He offered to try HCG shots on my but the cost was too much.

    For the anxiety, I take a small amount of Xanax, but it's completely situational based, thus a 30 day script lasts me 5 or more years. With CFS I slowly developed anxiety when in small spaces, in doctors offices, airplanes, etc. Basically, when I feel under threat of something. The anxiety builds and I can't easily get rid of it like a normal person. The racing heart and high lasts far longer than it should. All the tapping, deep breathing and hypnosis I've tried does not help. It's probably the one symptom I hate the worse because it has made me afraid of living. My doc thinks it's due to heavy metals and he could be right, but there is def more to it.
  9. caledonia

    caledonia

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    Cincinnati, OH, USA
    @Wendi C PMS could be due to lack of Omega 3s. At least, that's how it works for me. When I started supplementing with high dose pharmaceutical grade fish oil, I got relief from the mental aspects and also much of the pain.

    The anxiety could be due to high glutamate and low GABA (very typical ME/CFS neurotransmitter situation). Glutamate is stimulating while GABA is calming. You may be able to supplement with GABA or theanine and also stop intake of MSG (in most processed foods) and also the big four natural glutamate foods (tomatoes, mushrooms, peas and Parmesan cheese). This will balance things until you can get methylation going and neurotransmitter production going.

    I have a lot of experience with anxiety. As a result of methylation treatment, I don't need to supplement GABA anymore, and am halfway tapered off Zoloft. I could probably drop it altogether today if only there wasn't a horrible withdrawal syndrome caused by coming off too fast. I still have mercury to detox, so I don't know about your doctor's hypothesis about that.
  10. Wendi C

    Wendi C

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    New Mexico
    @caledonia - YES! Omega's for me are essential. My first batch of tests showed that I derive most my energy via Omegas (since Krebs is broken), so when I went strict candida diet (tons of eggs, and various protein), the symptoms dropped off and my hormones all came into line, so much so that I became pregnant. Oops! Problem has been since I had the baby. Hard to restrict my diet with him around and need for quick carb energy to keep up with him. But when I follow the candida diet to the "T", I feel amazing. Just have to get back on the bandwagon..:sluggish:

    I have supplemented with various GABAs and theanine. I didn't ever notice a difference but may need to revisit. Do you have a source you think is best to cross the blood/brain barrier?

    As far as metals and anxiety, he believes heavy metals can cause anxiety, but also that candida and metals go hand in hand, and I'll admit, when I had candida under control, my nervous system didn't flip out over something simple. I'm sure it's all tied together somehow.:confused:
  11. caledonia

    caledonia

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    Cincinnati, OH, USA
    @Wendi C It sounds like candida is a big issue for you. So why not just kill off the candida already. Diet alone cannot do that. You need to take herbs/supps specifically to kill off the candida. See the 4R Gut Rebuilding Program link in my signature.

    It is always recommended to get the gut in order before getting into methylation anyway. The bad gut bugs cause leaky gut, which cause inflammation, food allergies, etc. And they also hold onto metals. And they can make it so you can't absorb nutrients/supps properly.

    So getting the gut straightened out first can be huge.
    helen1 likes this.

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