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MTHFR gene mutations.....tell me anything you know!

post #1 of 3
Thread Starter 

I recently discovered that I am heterozygous (1 copy) for the A1298C MTHFR gene mutation.

 

I understand that this is the least "bad" of the possibilities, but still wonder if I need to be doing anything.

 

I was suspicious long ago about having one of these mutations because my son was severely tongue tied at birth whoch is a midline defect. I started taking a prenatal vitamin with real folate in it a while ago as Im trying to have another baby. I am miscarrying my second at 7 weeks right now. I doubt this mutation has anything to do with it, but i wonder.

 

 

Ive read some docs dont think hetero mutations needs any treatment, some disagree and advise lots of b6 b12 and folate. I already take extra of all of these but wonder if I need more. Ive also read that people with this mutation should take a baby aspirin every day.

 

Ill be talking to my RE soon and will ask her about it and I also see another doc for thyoid/adrenal issues and will ask him to. I would love to hear anything/info that anyone has about this mutation.

 

Thanks!

post #2 of 3

This may be more introductory than you need, but just today I ran across a really nice summary (it doesn't differentiate between the two variants of mthfr though)...

 

http://www.huffingtonpost.com/dr-mark-hyman/nutrition-tips-folic-acid_b_601126.html

 

But this below is a much more thorough discussion of methylation and how multiple genes have variants that affect how smoothly (or not) methylation runs....

 

http://www.heartfixer.com/AMRI-Nutrigenomics.htm

 

Some of these genes probably don't matter much in healthy people--if stuff's generally ok, then people can adapt pretty well, but the more variants someone has, or the more odd/unfortunate environmental stuff people have encountered, the more the other stuff can matter.  But just start with the MTHFR stuff--I found this page really dense, I am still reading different sections.

 

And if you're really interested, 23andme.com may still be having a sale, they test quite a few of these genes, normally it's > $400, but once or twice a year they seem to run sales, this one (if it's still going, they said til Christmas or supplies run out--would they really run out of test kits?!?)  is $99 + $60 (the monthly subscription, it's $5/mo for a year then you can stop) + shipping.  Not super-cheap, but for people problem-solving (and I think it's overkill for most health concerns), it looks helpful.  Though if you look carefully at family history, a lot of people may be able to make pretty good guesses on their own. 

post #3 of 3
Thread Starter 

Thanks for those links I will be sure to check them out!

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