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Old 10-03-2012, 10:49 AM   #1
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MTHFR Gene Mutation

Hello All,
I just recently received my test results back for the MTHFR gene
and it appears that I have two mutations A1298C/A1298C - Homozygous. I was just wondering if anyone else has this same mutation and would like to share their experience. How did your doctor react and did you seek advice from a genetic counselor?

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Old 10-03-2012, 10:50 AM   #2
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What is MTHFR?
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Old 10-03-2012, 11:00 AM   #3
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Re: MTHFR Gene Mutation

MTHFR stands for the methylenetetrahydrofolate reductase gene (methyl-ene-tetra-hydro-folate-reductase). The function of the MTHFR gene is simply to produce the MTHFR enzyme. However, if the MTHFR gene is mutated, the enzyme produced is not entirely correct. The MTHFR gene mutation is very complex and at times hard to understand. I am still not completely sure what this mean for my future or my children, if anything. You can find more information at http://mthfr.net/what-is-mthfr/2011/11/04/ .
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Old 10-03-2012, 11:06 AM   #4
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I am heterozygous. I found out after 3 losses but have been successful on lovenox and extra folic acid, B6 and B12. I'm pregnant with #3 and all is well.
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Old 10-03-2012, 11:08 AM   #5
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I did not see a genetic counselor but I was seeing an RE at the time and he was confident about our plan and that I would have a successful pregnancy.
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Old 10-03-2012, 11:09 AM   #6
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Re: MTHFR Gene Mutation

This link below provides a list of conditions and symptoms that might be caused by the MTHFR gene mutations.

http://mthfr.net/mthfr-mutations-and...se/2011/09/07/

From what I understand this mutation can keep the body from properly converting and absorbing Folic Acid which can lead to all kinds of health problems including serious complications for pregnant women. My first child was born with bilateral club feet and congenital heart disease, both have been linked to this mutation.
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Old 10-03-2012, 11:28 AM   #7
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I am heterozygous but have normal homocysteine levels and no symptoms. My dr told me (and google told me) that the mutation alone does not cause symptoms but the high homocysteine and issues with metabolizing folate does. I do take extra frolic acid when Im pregnant but that is all. I just had a loss and am totally freaked out that it is related to the mutation and will happen again, but again was reminded its the high homocysteine that causes mc and not the actual mutation.

I'm not too helpful but I know a lot of people have this and hopefully someone will chime in with their experience.
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Old 10-03-2012, 11:43 AM   #8
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Re: MTHFR Gene Mutation

I have also been told the same thing from my doctor and my levels came back normal, but I have also found additional information that suggests that just looking at ones homocysteine levels isn't enough. I just have a hard time thinking of my daughters conditions as just a coincidence which is what the geneticist basically stated. Also something I just don't understand is if this mutation can limit ones body from metabolizing folic acid why would doctors prescribe additional folic acid? Wouldn't it make more sense to tell patients to take folate which is the active form of folic acid, this way ones body doesn't have to try and convert the synthetic stuff. Seems very counter productive to me.
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Old 10-03-2012, 12:04 PM   #9
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Re: MTHFR Gene Mutation

I am compound heterozygous, meaning I have one of each mutation. I found out after my daughter was diagnosed with anencephaly, which is a fatal neural tube defect probably due to my body being unable to convert synthetic folic acid into methyl-folate...The mutation probably also contributed to my miscarriage loss before my oldest dd. I've done a lot of research on it on my own, because my doctor doesn't have much experience with this (though luckily, he's willing and wanting to learn more). I'm taking methyl-folate and methyl-B12 every day, 1.6mg, and 1mg respectively, along with other vitamins that I take for my general health (and to help prepare my uterus for labour since I'm getting close to time to deliver). I highly recommend this article about folic acid, as it was very helpful to me when I was doing my research (especially all the links to recent studies at the bottom, etc.). Taking the methyl-folate (also called MTHF-5) bypasses my body's need to convert anything, and honestly I can feel a difference in my overall mood and health in general since switching from the folic acid to folate. I tend to completely avoid folic acid when possible now, which is hard because it's "fortified" in a lot of our more processed foods like cereal and breads.

I've also read information that suggests the homocysteine levels alone aren't a good determination of the effects of the mthfr gene on a person's health...unfortunately, it's a very under-researched area in general, and a lot of people I've talked to in the medical community seem to still be basing their information on research done a decade ago, rather than recognizing the more current research. And anecdotal, I know, but a friend of mine doesn't have elevated homocysteine levels, yet has suffered 9 miscarriage between her two children, and had to be on blood thinning injections for her youngest child's pregnancy because her blood was clotting and threatening the pregnancy. She only has one mutation (not sure which one), but I highly doubt it is all coincidental.
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