All about MTHFR - Resources<img src='/RoR/images/blank.png' class='icon_img_ww push_pin_icon'>

What is MTHFR?

MTHFR is the scientific name for Methylenetetrahydrofolate reductase.  It is also the gene that provides the body with instructions on how to make an enzyme called methylenetetrahydrofolate reductase.   When one has a genetic mutation involving MTHFR, they have something called a variant of that gene.  There are 24 known variants to the mutation and they can cause no problem at all or have very serious health complications.  There is a lot of debate and confusion regarding this genetic mutation and as a result a whole lot of medical studies on the topic.

The following are a few of the more reliable sites regarding MTHFR and it's role in pregnancy (or loss of):

http://www.medhelp.org/tags/health_page/139/Genetics/MTHFR?hp_id=1131

http://www.stephenwellsmd.com/mthfr.htm

http://www.pregnancy-info.net/mthfr.html

http://fs6.depauw.edu:50080/~cfornari/DISGEN/Webpage/mutations_mild.htm
http://fs6.depauw.edu:50080/~cfornari/DISGEN/Webpage/diagnosis.htm

http://ghr.nlm.nih.gov/gene/MTHFR

http://www.pharmgkb.org/search/annotatedGene/mthfr/variant.jsp

http://miscarriage.about.com/od/thrombophiliadisorders/i/mthfr.htm

http://miscarriage.about.com/od/thrombophiliadisorders/p/antiphosphol.htm

http://www.cancerindex.org/geneweb/MTHFR.htm

http://www.photodenver.net/mthfr.html

And lastly a very medical text and specific genetic information with respect to MTHFR:
http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFR

Undoubtedly you will find a lot of other information regarding MTHFR out there on the World Wide Web, but what counts is what your physician or specialist believes is going to be helpful for you.  Each person is affected by MTHFR differently.  A person can have a single copy of a mutation (Heterozygous) or both copies of a mutation (Homozygous).  A person can even have more than one mutation with a single or double copy called Compound Heterozygous/Homozygous and it is important to note that each variation of the mutation does or can affect each person differently or even not at all - which is likely why there is much dispute about it in the medical community.

I hope if you have information that you have found that you will share it with others here, along with your journey.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator;
MTHFR Group Forum Founder/Moderator