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

[kaytie]

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!!!​

 

[LaurieL]

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!!!

Kaytie, would you also post your SNP's from your detox profile as well?

 

[Valentijn]

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!!!

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.

 

[kaytie]

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.

Thank you for your suggestions!! Much appreciated! What might the phosphatidylcholine be for?

 

[kaytie]

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​

+/-​