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23andme & Chronic insomnia and family history of psychiatric/CNS disorders

Discussion in 'Genetic Testing and SNPs' started by xptriado, Feb 12, 2014.

  1. SOC

    SOC Moderator and Senior Member

    Good news you probably don't have ME/CFS! Nobody in their right mind would want to have this horrible disease.

    Yes, this is a very knowledgeable community with many people willing to help others. I hope you get the answers you're looking for.
    xptriado likes this.
  2. xptriado


    By the way, I just ordered 23andme kit!
    I'm waiting for it to arrive :))
    Valentijn and merylg like this.
  3. xptriado


    So here I am 5 weeks later with the preliminary results from 23andme. I received an email saying that MOST of my results are available, though for the rest I should wait a few more days.
    I find this was well spent money and I want to thank you all for the help I needed at the time to decide to get 23andme test done.

    Now I have the data and Ive passed it through geneticgenie which yield the following.
    I could only understand I could possibly have high homocysteine levels, a problem with the MAO A (breakdown of neurotransmitters), maybe low dopamine, and Vitamin D. This honestly all feels in line with my symptoms, but where to go from here, and how to analyse this further?

    Thank you for the help
    merylg likes this.
  4. xptriado


    Detox profile is:
    Heterozygous (+/-) for:
    CYP1A2 164A>C
    CYP1B1 L432V
    CYP1B1 N453S
    CYP1B1 R48G
    CYP2D6 2850C>T
    NAT2 I114T

    Homozygous (+/+) for:
    SOD2 A16V
    CYP2D6 S486T

    GSTT1 is Present

    Where can I extract more info from the raw data and where can I get explanations on this?Maybe even an appointment
  5. Valentijn

    Valentijn Activity Level: 3

    Amersfoort, Netherlands
    @xptriado - Most relevant is that you have heterogeneous MTHFR C677T. That means your folate production is at 65% of normal, hence supplementing with methylfolate (not folic acid) may be helpful if you're not a big eater of the vegetables.

    Slow MAOA is very common, and not a concern in and of itself unless the relevant neurotransmitters are being produced too quickly. But that doesn't see to be the case. Hence the bigger use for MAOA is in helping to determine how well you tolerate methyl groups. Because MAOA uses methyl groups when breaking down, having the slow version means that you use methyl groups more slowly, hence might not tolerate a lot of additional methyl groups, such as you'd get if you took a high dose of methylB12. So if you do try B12, hydroxoB12 might be the more pleasant form.

    If you want to play with your 23andMe data a bit more, I've got a program at http://sourceforge.net/projects/analyzemygenes/ which can download to extract your very rare results. Then you can look up the SNPs by their "rs" number at http://www.ncbi.nlm.nih.gov/projects/SNP/ to find some basic info, or on google scholar.
    merylg likes this.
  6. xptriado


    Hi Valentijn!

    That can explain why I would get very tired and brain fog after methylcobalamin@1000mg sublingual.
    Maybe I should get hydroxoB12.

    You are saying that that's the only wrong thing but I find that there may be something with the VDR taq, as this could lead to lower dopamine.
    When I was younger, my epileptical fits were triggered by an anti-dopaminergic drug.
    And now that I live abroad, in a place not very sunny, I really have troubles adapting to the climate, while my friends seem to complain only a bit. For me a day out in the sun regulates my sleep.

    I also see that CYP2D6 S486T could mean that I get more rare side effects from medications, or am I wrong? This could be in line with some life experiences.

    And this SOD2 A16V, could mean I should be supplementing with anti-oxidants?

    I tried your software, but I couldn't find any information on my very rare SNPs, but i seem to have a couple which are only in 0.05% of wolrd population :p

    Does your software identify mitochondrial diseases related SNPs?

    Thank you :)
    merylg and Valentijn like this.
  7. caledonia


    Cincinnati, OH, USA
    Actually seizures are on the list of methylation based diseases. Sleep and mental health issues also fit. See the Methylation Made Easy video #1 linked in my signature.

    The way that stress fits in is, stress depletes B vitamins. So if you're already low or borderline in B vitamins, episodes of stress can cause symptoms because you don't have enough B vitamins on board to deal with it.


    Methylation SNPs

    You have the B12 Double Whammy - both MTR (B12 intake) and MTRR (B12 recycling). You may be deficient in and need to supplement with B12. Unfortunately, testing is not always accurate. If you're low, you're low. But if it's high or normal, you could still be low.

    There are many signs and symptoms of B12 deficiency though. This is a great article: http://chriskresser.com/b12-deficiency-a-silent-epidemic-with-serious-consequences

    For your COMT/VDR mutations, Yasko suggests all three types of B12 (hydroxycobalamin, methylcobalamin and adenosylcobalamin) with less methylcobalamin.

    The VDR Bsm could make you low in Vitamin D which would affect mood. You can test for this and supplement if you're low.

    MTHFR C677T could lower your levels of methylfolate.

    Shawn Bean from MTHFRsupport.com has mentioned that those with BHMT mutations could have the wiggling foot or leg, lip chewing and so forth, where a person never feels relaxed and they end up doing these repetitive behaviors as a result. I actually have the same thing - BHMTs, foot wiggles, cheek chewing.

    For the BHMTs, Yasko suggests sunflower lecithin, which would provide TMG (tri methyl glycine). If you look at a methylation cycle diagram, BHMT is in the secondary shortcut methylation pathway.

    Detox SNPs

    CYP1A2 - slow caffeine metabolizer

    CYP1B1 - could cause estrogen dominance which can cause estrogen related cancers (breast, cervical, etc. for women and prostate for men). You can eat cruciferous veggies, or take DIM or IC3 supplements if your estrogen is running high.

    CYP2D6 - detoxifies 20% of all prescription drugs including psych drugs - could have problems with those - see the Detoxigenomics link in my signature for a complete list of drugs. I found a study which says Metoclopramide is metabolized by CYP2D6 - http://www.ncbi.nlm.nih.gov/pubmed/24010633

    NAT2 - slow detoxifier of smoke and petrochemicals - so avoid those

    SOD2 A16V - affects mitochrondria, so could affect energy. You can try a GliSODin supplement or take mitochondrial supplements such as ribose, carnitine, CoQ10, etc.

    GSTT1 is Present - if this were absent, you would have worse problems with glutathione than those possibly caused by your MTHFR/MTR/MTRR mutations. So that fact that it's present is good.
  8. Valentijn

    Valentijn Activity Level: 3

    Amersfoort, Netherlands
    I don't think it currently looks at the Y chromosome or mitochondrial DNA.
  9. xptriado


    @caledonia, your answer is very insightful into what I have experienced through my life.

    The BHMT mutations may be producing a problem as I have bitten and chewed my cheeks and lips since I was a kid! This has been completely impossible to CEASE even if I tried hard. Only time I managed to stop it was with mirtazapine+clonazepam and it went away for months-1year. Did you manage to overcome this issue?

    The vitamin D receptor problem could be making me have low dopamine, which in turn can cause depression, amotivation, anhedonia, reduced sexual impulse, muscle spasms and its even connected to epilepsy. I think I really do have a problem here as I have experience all of those plus when I took Metoclopramide (anti-dopaminergic) it triggered my seizures. On top of that it is synthetized by CYP2D6, which I could have a shortage of the enzyme and make me have higher than normal concentrations of the substance and that's why I got such a rare side effect.

    When I took mirtazapine and amytriptyline, it triggered my muscle spasms at night to the point I would wake up with a limb movement or not even be able to fall asleep with twitching groups of muscles. These medications are heavily metabolized by CYP2D6. The reason for the rare side effects of twitching or PLMD could be the same as for Metoclopramide: anti-dopaminergic properties, this time induced by enhancement of serotonin, as they are normally opposing eachother as fas as I understood.

    I definetely must have Circadian rythm problems, which could be related to both inadequate Vitamin D and B12, since I have problems with late night insomnia, and tend to fall asleep late. I have as well unrefreshing and many times, fragmented sleep.

    When I took finasteride, I got a rare side effect of gynecomastia 3 weeks into the treatment. If CYP1B1 mutation can cause estrogen dominance, this could again be the reason why I got such a rare side effect from a drug. My estrogen balance was probably off to start with and when I introduced a 5ar inhibitor, my DHT decreased, which increased my testosterone and along with it, the estrogen, becuase they go hand-in-hand.

    I am making a list of what I should buy to try it out and I have by priority:

    - Sunflower Lecithin - I'm going to start with this and see if I improve the lip chewing as it's the most directly observable problem I have.
    - L-Tyrosine, to see if it helps spasms and mood.
    - Vitamin D (this I already tried with some positivity around 15.000UI a day..but I was afraid to keep on taking so much)
    - Methyl folate (this I already tried withouth any conclusion)
    - Ribose or Carnitine or Coq10
    - DIM or IC3
    - hydroxycobalamin, methylcobalamin and adenosylcobalamin - (I already tried methylcobalamin but it gave me tiredness and fogginess.)
    - Vitamin C liposomal - because I tried vitamin C and I get very well with it, so I want to try liposomal.
    - Methionine - (Maybe this isn't a good supplement because of increased ROS in the mitochondria?)

    Regarding exams, do you think I should do:
    - Exam to measure dopamine in blood?
    - Estrogen and Testosterone?Which exactly should I test for estrogen dominance?
    - Vitamin D

    Do you think this is a good starting point?
    I would be starting the supplements one by one to judge my reaction to them.
    Do you know any doctors who could be accepting skype consultations on 23andme results and would provide further insight?

    thank you:)
    Last edited: Mar 27, 2014
  10. caledonia


    Cincinnati, OH, USA
    Coincidentally, I just noticed this week, to my surprise, that it's been quite awhile since I've done foot wiggling. I'm still doing the cheek chewing though, but not as bad.

    Sounds familiar. Methylation treatment has helped this quite a bit.

    Then I would suggest not buying and trying supps quite yet. The methylation cycle is very powerful and it's easy to make yourself worse if you don't know what you're doing. If you haven't read materials such as the Heartfixer page, (linked in my signature), that would be a good one to start with.

    Ideally, it's good to do some functional testing to see what you're depleted in. The Nutreval test is a good one. If you worked with a doctor, they would likely ask for this test or something similar. It several tests rolled into one. Gut, Kreb's cycle, neurotransmitters (includes dopamine), essential fatty acids, amino acids, toxic eposures, vitamins and minerals, glutathione and so on. You can do an additional interpretation with the Nutreval Interpretation Guide document linked in my signature. Vitamin D would be good to add - I don't think the Nutreval tests for that.

    I wouldn't take supps to lower hormones unless you had tested to make sure they were high first. The Genova Essential Estrogens test on this page is one I've seen recommended. There are other estrogen tests there which are cheaper, but I don't really know anything about them. I have the same SNPs and I'm just eating cruciferous veggies for now. DIM and IC3 are contained in cruciferous veggies.

    This is a very good practice. Please read the Start Low and Go Slow document in my signature. Sometime soon I'm also going to post a new document called Roadblocks to Successful Methylation. I'll have a link in my signature for that too.

    Look at the Find a Practitioner list in my signature. The MTHFRsupport list has some docs who do phone or Skype.
  11. xptriado


    @caledonia , once I managed to stop my lip bitting for over one year. I made an effort to stop but it was easy. That was when I was on mirtazapine+clonazepam. Before that, I had made several efforts and I managed to stop for a few days and then automatically I'd start bitting it again.
    What I'm saying is, ifyou noticed your foot wigling has stopped,probably means you're less nervous, then maybe you just need to do a small effort to stop lip bitting and hopefully you'll solve this issue.
    I guess at some point, wiggling the foot or bitting the lips/cheeks turns into an habit.

    Nutreval test sounds great, but do you have any idea how much it would cost? Im about to write an email asking. Ive tried supporting methylation in the past with mb12 and mb9, p5p, but i honestly didn't see anything miraculous happening.

    I've heard I should be addressing the mutations by order, so maybe before MTHFR I should be addressing something else? What I want to know is , has anyone really improved their conditions by working through their genetic data?

    My plan is to run those exams and book an appointment through a doctor to give me some more insight. Do you know any good doctor working with this in the surroundings of Belgium or in Portugal?

    Ive ran Sterling App on MTHFRSupport website and I got some more things, which may be relevant, especially at mitochondrial level: NDUFS7 is +/+. I read it is linked to complex type I deficiencies. I read symptoms of this and I can correlate with fatigue and seizures. On the other hand my seizures were always triggered by something (medication, fever...). But I do seem to have a reduced seizure threshold. But how to know where it is coming from it's my quest. I was thinking it was due to low dopamine, but now I see it can also come from mitochondrial function.

    Do you find something here that looks way off?


    CYP2D6 S486T rs1135840 G GG +/+
    SOD2 A16V rs4880 G GG +/+
    SOD2 rs2758331 A AA +/+
    CD14 rs2569191 C CC +/+

    HLA-DQA2 rs9275224 A AA +/+

    Clotting Factors
    SERPINC1 rs2227589 T TT +/+

    AGT M235T/C4072T rs699 G GG +/+
    CBS A13637G rs2851391 T TT +/+
    MAO A R297R rs6323 T T +
    MTHFS rs6495446 C CC +/+
    NOS3 rs1800783 A AA +/+
    NOS3 rs1800779 G GG +/+
    PEMT rs4646406 A AA +/+
    SHMT2 rs34095989 A AA +/+

    Mitochondrial Function
    NDUFS7 rs2332496 A AA +/+
    NDUFS7 rs1142530 T TT +/+
    NDUFS7 rs7258846 T TT +/+

    CYP2D6 T2850C rs16947 A AG +/-
    CYP1A2 C164A rs762551 C AC +/-
    CYP1B1 L432V rs1056836 C CG +/-
    CYP1B1 N453S rs1800440 C CT +/-
    CYP1B1 R48G rs10012 C CG +/-
    NAT2 G590A (R197Q) rs1799930 A AG +/-
    PON1 Q192R rs662 C CT +/-
    SOD2 rs2855262 T CT +/-

    Tongue Tie/Cleft Palate
    CTH S4031I rs1021737 T GT +/-
    IRF6 rs987525 A AC +/-
    IRF6 rs861020 A AG +/-

    HLA rs7775228 C CT +/-
    FCER1A rs2251746 C CT +/-

    FCGR2A rs1801274 A AG +/-
    GSTM3 V224I rs7483 T CT +/-
    TRAF1 rs3761847 G AG +/-
    IGF1R rs2229765 A AG +/-
    IFIH1 (HLA) rs1990760 C CT +/-
    CFH rs6677604 A AG +/-
    MTC03P1 rs9275596 C CT +/-
    HLA-DPB2 / COL11A2P rs1883414 A AG +/-

    Clotting Factors
    CETP rs1800775 C AC +/-
    CYP4V2 rs13146272 C AC +/-
    HRG rs9898 T CT +/-
    ACE Del16 rs4343 G AG +/-
    BHMT-02 rs567754 T CT +/-
    BHMT-08 rs651852 T CT +/-
    COMT H62H rs4633 T CT +/-
    COMT V158M rs4680 A AG +/-
    DAO rs3741775 C AC +/-
    DHFR rs1643649 C CT +/-
    GAD1 rs769407 C CG +/-
    GAD1 rs3791851 C CT +/-
    GAD1 rs12185692 A AC +/-
    GAD1 rs3791878 T GT +/-
    GAD1 rs3828275 T CT +/-
    GAD1 rs701492 T CT +/-
    GIF (TCN3) rs558660 A AG +/-
    MTHFD1 C105T rs1076991 C CT +/-
    MTHFD1 G1958A rs2236225 A AG +/-
    MTHFR C677T rs1801133 A AG +/-
    MTR A2756G rs1805087 G AG +/-
    MTRR A66G rs1801394 G AG +/-
    MTRR rs3776467 G AG +/-
    NOS2 rs2297518 A AG +/-
    NOS2 rs2274894 T GT +/-
    NOS2 rs2248814 A AG +/-
    TCN1 rs526934 G AG +/-
    TCN2 C766G rs1801198 G CG +/-

    Celiac Disease/Gluten Intolerance
    HLA rs2858331 G AG +/-

    FOXE1 rs1867277 A AG +/-
    FOXE1 rs10984009 A AG +/-

    Eye Health
    BCMO1 A379V rs7501331 T CT +/-

    Mitochondrial Function
    NDUFS3 rs4147730 A AG +/-
    UQCRC2 rs11648723 T GT +/-

    Other Immune Factors
    ATG16L1 rs10210302 C CT +/-
    IL5 rs2069812 A AG +/-
    SULT1A1 rs35728980 G GT +/-
    SULT1A1 rs1042157 A AG +/-
    SULT2A1 rs296366 T CT +/-
    SULT2A1 rs2547231 C AC +/-
  12. caledonia


    Cincinnati, OH, USA
    I was successful stopping the cheek biting for a couple of months, then I stopped being mindful and got back into doing it. Technically, if it was just a habit, you would be able to stop after three weeks or so. I should be able to get more improvement once I'm able to raise my methylation supps more.

    It's in the $800 range. You may be able to get insurance to pay for it.

    Read the Roadblocks to Methylation document in my signature. There are many variables which could cause it not to work.

    You don't appear to have any "First Priority" mutations, so you're probably good to go with MTHFR, MTR, MTRR. SHMT is the only question as 23andme doesn't test that any more. You would take folinic acid for that. Many protocols (except for Freddd's) add in folinic anyway. Some people may not tolerate folinic.

    Yes, many people on here have gotten at least partial improvement (including me). I'm off my thyroid medicine for the first time in 13 years. My adrenals have seen similar improvement. I'll be retesting next month to hopefully make it official. A few people like Greenshots and Freddd have gotten substantial improvement. Many autistic children are recovering speech and having many other improvements with Yasko's protocol.

    I don't know of anybody outside of the Practitioner List. I believe the docs who do phone or Skype in the US will also work with Europeans.

    I'm not as familiar with all the various SNPs Sterling has dug up. Off the top of my head, I believe PEMT is also associated with the BHMT pathway. So that would be an extra block there on top of your BHMTs. 23andme doesn't test BHMT4 anymore, but if you have the other two, you probably have that one too.
  13. xptriado


    Thank you so much, im going to reaf yaskos an roadblocks to methilation!

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