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MTHFR gene mutation

  • 19-10-2013 10:15pm
    #1
    Registered Users, Registered Users 2 Posts: 125 ✭✭


    Does anyone here have any special interest in, or knowledge of this? I have the high folate,low homocysteine version.


Comments

  • Closed Accounts Posts: 29 EdgarFriendly


    MTHFR A1298C is the mutation not associated with high homocysteine levels. I am compound heterozygous for MTHFR A1298C and MTHFR C677T. My homocysteine levels are within range as per my latest blood test. Unfortunately, I have an array of other mutations which make it very difficult to medicate. Normally, methylfolate and methylcobalamin and used - but my tolerance to methyl donors is very poor. I'm going to reattempt medication soon. It's very difficult to find the magic dose.

    There is very little discussion about this gene in Ireland at all. Neither of the two GP's I visit are aware of it, but are happy to do the required blood work I ask of them. But the implications for their mutations are tremendous. I've researched quite a bit on it.


  • Registered Users, Registered Users 2 Posts: 125 ✭✭Chrisita


    Is is associated with a low level of homocysteine, which is a part of my diagnosis.


  • Closed Accounts Posts: 29 EdgarFriendly


    Nope, I don't believe it affects homocysteine levels. C677T does, but it does it on the opposite spectrum - leading to high levels. Homocysteine is converted to Methionine and Cysteine. Ideally, you want to have lower homocysteine levels. But the methylation cycle is very delicate and complex.

    Who did you do your testing with, and what did they recommend for you?


  • Registered Users, Registered Users 2 Posts: 125 ✭✭Chrisita


    I was tested by a biobalance.org trained Dr and had under methylation. It took a year to correct with zinc,vit c, calcium magnesium,B6 and omega3 and methionnine. I also had two other imbalances which were described as genetic defects so I take other nutrients to correct them. They are a life long prescription, but the improvement in my general health is astounding. My adrenal function had been impacted from these long term undiagnosed probs, and I still battle fatigue, although not anywhere close to how awful it was, before commencing this protocol. I was not told which genes were involved, just where the biochemical processes were challenged. I had sky high levels of copper,folate and histamine and my treatment is designed to normalize these levels so they allow other proesses to occur as they should. My Dr said that low homocysteine is often related to depression too. What have you tried so far? Initially this can be frustrating to adhere to, because you are lucky to feel a slight change at the 3 to 4 month stage.


  • Closed Accounts Posts: 29 EdgarFriendly


    A rake of things, but I'm self medicating - so it's quite difficult to find a balance. I have methylcobalamin, but I have an intolerance to methyls so I take hydroxocobalamin instead. I'm still exhausted either way. Also take methylfolate, along with a good b-complex from Thorne Research, which has all the correct forms of B's (P5P, etc...). I take zinc to balance my copper levels. But I have no real benchmark to work off of.

    Could you send me a private message with the Dr's details?


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  • Registered Users, Registered Users 2 Posts: 125 ✭✭Chrisita


    is unfortunately based in Sydney Australia. There is only one Biobalance trained GP in Ireland, Dr <snip> in Dublin. I would get tested through him, it will give you specifics to work with. It sounds like you <snip> (requires folate and B12), this improves faster than my version.


  • Registered Users, Registered Users 2 Posts: 125 ✭✭Chrisita


    Sorry admin, I thought I was private messaging there.


  • Registered Users, Registered Users 2 Posts: 2,816 ✭✭✭Vorsprung


    Chrisita wrote: »
    is unfortunately based in Sydney Australia. There is only one Biobalance trained GP in Ireland, Dr <snip> in Dublin. I would get tested through him, it will give you specifics to work with. It sounds like you <snip> (requires folate and B12), this improves faster than my version.

    Chrisita,

    I've edited out the name of the name and what could be perceived as being a diagnosis based on a few messages on an Internet site. I appreciate you were trying to PM.

    I'd strongly suggest that nobody allows a diagnosis to be made on the basis of a few details being shared.


  • Registered Users, Registered Users 2 Posts: 125 ✭✭Chrisita


    Testing is absolutely vital here, we are all biochemically unique. Even practitioners of this treatment are regularly surprised at individuals test results. If the admin wishes to remove my accidental post,please do so.


  • Registered Users, Registered Users 2 Posts: 187 ✭✭andydurnin


    Hi. I would like to know how to get tested for this? My sister got tested in Australia and was diagnosed with it. She advised me to get tested as my wife is pregnant and was worried that i would pass it on to my child when it is born.


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  • Registered Users, Registered Users 2 Posts: 187 ✭✭andydurnin


    I would like to know how to get tested for this? My sister got tested in Australia and was diagnosed with it. She advised me to get tested as my wife is pregnant and was worried that i would pass it on to my child when it is born.


  • Registered Users, Registered Users 2 Posts: 213 ✭✭Amantine


    andydurnin wrote: »
    I would like to know how to get tested for this? My sister got tested in Australia and was diagnosed with it. She advised me to get tested as my wife is pregnant and was worried that i would pass it on to my child when it is born.
    You can get your whole genome from 23andme and then check any gene you want. You can also just get the ancestry part from 23andme, download the raw data for your genome and run it through software to see the genes.


  • Registered Users, Registered Users 2 Posts: 213 ✭✭Amantine


    andydurnin wrote: »
    I would like to know how to get tested for this? My sister got tested in Australia and was diagnosed with it. She advised me to get tested as my wife is pregnant and was worried that i would pass it on to my child when it is born.
    You don't need to worry by the way, it's just a mutation, not a disease. It can lead to problem in some people but if you know you have it, it easy to add folate rich food to your diet or take a methyl-folate supplement. Avoid folic acid as well.


  • Registered Users, Registered Users 2 Posts: 1 margot44


    Chrisita wrote: »
    I was tested by a biobalance.org trained Dr and had under methylation. It took a year to correct with zinc,vit c, calcium magnesium,B6 and omega3 and methionnine. I also had two other imbalances which were described as genetic defects so I take other nutrients to correct them. They are a life long prescription, but the improvement in my general health is astounding. My adrenal function had been impacted from these long term undiagnosed probs, and I still battle fatigue, although not anywhere close to how awful it was, before commencing this protocol. I was not told which genes were involved, just where the biochemical processes were challenged. I had sky high levels of copper,folate and histamine and my treatment is designed to normalize these levels so they allow other proesses to occur as they should. My Dr said that low homocysteine is often related to depression too. What have you tried so far? Initially this can be frustrating to adhere to, because you are lucky to feel a slight change at the 3 to 4 month stage.


    Hi Chrisita, I dont know if youre still on this website, but im interested in your post.
    I have chronic fatigue with other symptoms for over 7rs, my nutritionist mentioned that i might have a pb with methylation.
    How did you find your doctor in ireland that is trained in biobalance?


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