Thursday, July 31, 2014

MTHFR Mutation?

Well, I guess add MTHFR Mutation to my list of complications! I cannot catch a break.
What is MTHFR? Up until a few hours ago I had no clue. Now I have to know since I was just diagnosed with it.

The quick summary of it is:

"The MTHFR genetic mutation, or polymorphism was first discovered as a result of the human genome project. The gene produces the MTHFR enzyme, and people who have this mutation have a reduced ability to process folic acid/folate into something their body can use."


These are the functions of folic acid/folate:

Turn on and off genes (gene regulation)
Process chemical and toxins (biotransformation)
Build neurotransmitters (dopamine, serotonin, epinephrine)
Process hormones (estrogen)
Build immune cells (T cells, NK cells)
DNA and RNA synthese (Thymine aka 5-methyluracil)
Produce energy (CoQ10, carnitine, ATP)
Produce protective coating on nerves (myelination)

So this mutation affects a lot of different hormones and the way things are or aren't processed.

Pretty awesome news, right? (Note the sarcasm.)

Ugh just another day in my life of bad news after bad news.

2 comments:

  1. Thanks for ones marvelous posting! I really enjoyed reading it, you could be a great author.
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    undermethylation
    This site is dedicated to helping you understand and treat issues regarding imbalanced methylation and therefore your state of health.

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    1. Thank you, Frank! I will check out that website. Since being diagnosed my specialist put me on Bio B and Folate. I haven't updated in awhile, but I went through IVF and am now 30 weeks pregnant! :) I will post a full update soon! Thanks for reading my blog!

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