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I have a lot of BHMT and AHCY mutations, among others. Can you advise me?

Discussion in 'Genetic Testing and SNPs' started by Tom_Nightingale, Feb 19, 2013.

  1. kaytie

    kaytie

    Messages:
    3
    Likes:
    1
    LaurieL
    Hi– I have been reading about MTHFR for sometime now after noticing that tongue tie was related to the mutation. I have been on and off anxiety medicine for a few years. My genetic genie results showed that some of my mutations lead to low production of BH4 which helps promote reproduction of neurotransmitter. I was hoping to supplement with low doses of methyl-folate but it causes me to have terrible headaches and breakouts. Do you think that I could handle Niacinamide to treat the MAO mutation or would my CBS mutation not allow that? I have been reading your replies to others and you see very insightful. Please take a look at mine if you have a chance. Any suggestions of where to begin are much appreciated!

    I am homozygous for:
    MTRR A66G
    BHMT-02
    BHMT-04
    & heterozygous for –
    MTHFR A1298C
    COMT V158M
    COMT H62H
    VDR Bsm
    VDR Taq
    MAO-A R297R
    BHMT-08
    CBS C699T
    CBS A360A
    Any advice is appreciated. Thanks so much!!!
     
  2. LaurieL

    LaurieL Senior Member

    Messages:
    447
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    Midwest
    Kaytie, would you also post your SNP's from your detox profile as well?
     
  3. Valentijn

    Valentijn Activity Level: 3

    Messages:
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    10,220
    Amersfoort, Netherlands
    The good news is that there's no reason to think than BHMT-02 and BHMT-04 variations have any impact at all. There's no research showing that they do, no missense mutations resulting from them, and one study (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2677659/#SD6) shows no statistically significant impact of BHMT-02. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2700092/ also shows no statistically significant effect from either BHMT-02 or BHMT-04.

    If you want to see a list of other BHMT variants known to have an impact, I've compiled one at http://forums.phoenixrising.me/index.php?threads/interesting-bhmt-and-bhmt2-variations.24512/

    BHMT-08 is somewhat relevant, but the heterozygous version should only have a minor impact. It might result in elevated homocysteine and decreased SAMe. Some people think that phosphatidylcholine might help.

    MTRR suggests that you need B12 supplementation to help deal with the low methionine and high homocysteine which has been shown to result from your variant.

    MTHFR A1298C indicates a relatively minor problem with methylfolate production, but supplementing a normal dose of methylfolate still might be beneficial.

    The VDR, COMT, and MAOA suggest that your usage of methyl groups for neurotransmitters isn't particularly fast, so supplementing higher doses of anything with methyl groups in it should be undertaken with caution. Hence hydroxoB12 may be a safer version than methylB12, especially if you take high doses.

    CBS C699T is a slight downregulation which might result in higher levels of homocysteine. B6 should help with that. CBS A360A hasn't been shown to have any impact.

    SUMMARY:
    HydroxoB12 may be helpful, as well as B6, methylfolate, and possibly phosphatidylcholine.
     
  4. kaytie

    kaytie

    Messages:
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    Thank you for your suggestions!! Much appreciated! What might the phosphatidylcholine be for?
     
  5. kaytie

    kaytie

    Messages:
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    Thank you!!!![/quote]
    LaurieL Sorry I copy/pasted the wrong results! :) Here they are!

    CYP1A1*2C A4889G
    rs1048943
    TT
    -/-
    CYP1A1 m3 T3205C
    rs4986883
    TT
    -/-
    CYP1A1 C2453A
    rs1799814
    GG
    -/-
    CYP1A2 164A>C
    rs762551
    AC
    +/-
    CYP1B1 L432V
    rs1056836
    CG
    +/-
    CYP1B1 N453S
    rs1800440
    TT
    -/-
    CYP1B1 R48G
    rs10012
    CG
    +/-
    CYP2A6*2 1799T>A
    rs1801272
    AA
    -/-
    CYP2A6*20
    rs28399444
    II
    -/-
    CYP2C9*2 C430T
    rs1799853
    CC
    -/-
    CYP2C9*3 A1075C
    rs1057910
    AA
    -/-
    CYP2C19*17
    rs12248560
    CC
    -/-
    CYP2D6 S486T
    rs1135840
    --
    no call
    CYP2D6 100C>T
    rs1065852
    GG
    -/-
    CYP2D6 2850C>T
    rs16947
    AA
    +/+
    CYP2E1*1B 9896C>G
    rs2070676
    CC
    -/-
    CYP2E1*1B 10023G>A
    rs55897648
    GG
    -/-
    CYP2E1*4 4768G>A
    rs6413419
    GG
    -/-
    CYP3A4*1B
    rs2740574
    TT
    -/-
    CYP3A4*2 S222P
    rs55785340
    AA
    -/-
    CYP3A4*3 M445T
    rs4986910
    AA
    -/-
    CYP3A4*16 T185S
    rs12721627
    GG
    -/-
    GSTP1 I105V
    rs1695
    AA
    -/-
    GSTP1 A114V
    rs1138272
    CC
    -/-
    SOD2 A16V
    rs4880
    AA
    -/-
    NAT1 R187Q
    rs4986782
    GG
    -/-
    NAT1 R64W
    rs1805158
    CC
    -/-
    NAT2 I114T
    rs1801280
    CT
    +/-
    NAT2 R197Q
    rs1799930
    AG
    +/-
    NAT2 G286E
    rs1799931
    GG
    -/-
    NAT2 R64Q
    rs1801279
    GG
    -/-
    NAT2 K268R
    rs1208
    AG
    +/-
     
    LaurieL likes this.

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