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"The heterozygous man" ..seeking answers on 23andme SNP panel

Discussion in 'Genetic Testing and SNPs' started by Philla, Apr 21, 2013.

  1. Philla


    Hello, my name is Phil and I have been lurking on the forum for a while to gather impressions and experiences from other people challenged with health problems stemming (at least) from inherited polymorphisms in the methylation/transsulfuration pathways. Just to make my gratitude clear, I appreciate immensely the vast knowledge base shared on this forum. Overall, I apologize if my post maybe turns out a tad too long. English is also not my mother tongue, thus some expressions are possibly a bit unprecise.

    Although I do not have a clinical CFS/ME diagnosis I have had persistent health challenges (both mental and physical) for a long time (some for over half of my life - I am now 27 y.o.). Short: I have had success implementing the right supplements for methylation bypass, but I would appreciate advice/ideas exchange on a few SNP's.

    My main symptoms:

    - Very low serotonin for a long time (inner tension, anxiety, OCD, aggression, bad sleep, Seasonal depression) For those familiar with Pfeiffer methylation categories I fit the "high histamine" type mentally and physically.
    - Leaky gut and food allergies (I try to eat clean GF/CF, etc). Recurrent digestive issues if not diet compliant.
    - Some adrenal fatigue.
    - Chronic hives induced by heat/sweat (Mast cell activation maybe. It is also said to be related to thyroid autoimmunity.) Worse in teen years, not so intense now.
    - Slim and tall yet hypothyroid ("Ectomorph"). Very "hypoglycemic" metabolism, have to eat frequently.
    - Dramatic mood swings and periods of hypomania (Often occurs when I slip up on regime )
    - Intermittent brain fog and issues with motivation.
    - Some ASD / Asperger traits, very driven towards one subject of interest, often sacrifying social life.

    - (Not exactly a symptom but..) I have a 2 x 2 inches melanocytic nevus/mole on my left forearm (some hair on it). It is benign but my curiosity is being triggered towards a possible relation with Methylation issues. Minor birth defect perhaps. Maybe or maybe not ..
    I have been quite familiar to MTHFR and methylation related health problems for a couple of years, thus I am also acquainted to the different supplements that are common to correct the pathways. The Journey into the methyl maze, so to speak, started some years ago. After a period of depression I visited one of the best func. Med's in my country who ran a blood panel on me. My B12 was around 300 and serum folate (unmetabolized folate I guess) was highly elevated ( Remark: I did not supplement during this period, so it was not from folic acid).

    He suspected "faulty methylation" back then, but at that time no genetic screening panels were available. Of course he did give me the dreaded CyCbl and Folic acid combo which did no good. Sadly, the high dose Folic/Cyano is quite common among func. MD's in my part of the world (Scandinavia). Every high dose and pure form of vitamin B would be "Rx" here, due to legal restrictions on sales of supplements over a certain dose (i.e. niacin max 15 mg, B6 max 4 mg, cyano-b12 50 mcg). So obtaining right supplements has been a hassle without limits sometimes.

    Not very methylation-proficient, another func MD however suspected Mercury poisoning (since I had one amalgam which fell off in my teens). Then gave me a bunch of "DMSA challenge" capsules. According to him, any adverse reaction to those meant Hg-poisoning. My thyroid went hypo for a couple of months, leaving me confused and quite ill ..

    Story goes on and I then delved into more alternative healing modalities (due to lack of testing and knowledgeable practitioners) for a year.
    And then after finding the heartfixer site and trying desperately to debug the methylation pathways, I began to "guess my genes" (time consuming pastime.) based on Heartfixer's site and Amy Yasko's magnum opus. I tried the shotgun approach, loading up on MB12 and Methylfolate while trying to keep diet clean.. and then things slowly brightened.

    I induced some magic experiences in my supplement honeymoon phase. Natural happiness, mood, sociable, etc. It was an epiphany for me, my entire body knew answers were here somewhere. But I couldn't pinpoint exactly where.. After a while gut issues and stress caught up with me and compliance also suffered due to lacking funds and busy study schedule. But then I decided to dig even deeper..

    So, I finally opted for a 23andme SNP screening (GeneticGenie, thx..). I got the results back two weeks ago and they are embedded in a .pdf-file format.

    My assessment and questions:

    Overall it seems as if many pathways are partly blocked and affecting substrates and methylation end products. The MTHFR compound heterozygous is quite severe, but not surprising, since it explains many symptoms. I am happy though that there were so few homozygous mutations. I guess in the long run, my panel is a potential recipe for mitochondrial failure, if not "bypassed" and corrected with right forms of MB12 and Methylfolate.

    The CBS 360 A ++ also seems managable and better than having upregulation in the CBS 699. I guess I want to try Freddd's approach with high dose Methylfolate. Or would that be detrimental in terms of worsening CBS/trans-sulfuration, since the BHMT's also burden CBS? Also, how long should I wait to help the "short route" (BHMT) with Choline, TMG? When I eat eggs I feel assertive and calm, I also like the effect of Lecithin.

    I have 4 heterozygous MTR/MTRR. My tolerance to methyl donors such as MB12 is quite good and I know that MB12 is the only work-around for these enzymes. I'm fully aware of this being entering "trial and error" territory and that there's no rule of thumb, but how high MB12 doses are advisable here? I would be glad if any with multiple MTR/MTRR's could share their experience. Titrating on Freddd's approach seems reasonable to me, although I haven't started it yet.

    Lastly, if anybody could elaborate on their treatment of the ACAT also I would be glad. Or just want to share their experiences. I read somewhere that adenosylcobalamin would be important here. Along with other mitochondrial boosters and VItamin k2.

    Hope to get some answers - now time to cultivate proper circadian rhythm in central european time! :)
    Thank you in advance!


    Attached Files:

    • ch3.pdf
      File size:
      75.3 KB
    cph13 and merylg like this.
  2. Philla


    Hmm. My methyl panel won't come up in "view mode" in message for some reason. I therefore provide the data in text format below.
    + / + MAO A R297R, CBS A360A

    + / - COMT V158M, COMT H62H, VDR Bsm/Taq, ACAT1-02, MTHFR C677T, MTHFR A1298C, MTR A2756G, MTRR A66G, MTRR R415T, MTRR A664A, BHMT-02, BHMT-04, BHMT-08

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