Sunday, June 12, 2011

As promised, more about MTHFR

"MTHFR gene mutations are fairly common; nearly half the population of the United States may be at least heterozygous for a MTHFR gene mutation."

"However, hereditary thrombophilias are NOT universally accepted as a cause of recurrent miscarriages -- the ONLY thrombophilia disorder with a widely accepted treatment is antiphospholipid syndrome."

MTHFR or methylenetetrahydrofolate reductase is a gene that every single one of us carry. Like all genes some of us carry mutated genes as the ones I discussed before, A1298c & C677t. Those who carry these mutations lack the enzyme activity to break down folic acid into L-methylfolate or the active form of folic acid. They also lack the ability to break down Vitamin B.

So what does folic acid do? Why is it so important? Folic acid helps to repair, synthesize and methylate DNA. Folic acid is needed to aid in cell division and growth (When a women is 3 weeks pregnant the zygote divides into two cells, then 4 cells, 8 cells, 16 cells and each cell continues to divide every 12 hours.). Pretty important, huh?

Those who are deficent in folic acid may be at higher risk for heart disease, stroke, depression, obesity, cancer, allergic diseases, osteoporosis, miscarriage, birth defects, and more. Folate is important for both men and women's fertility.

Sometimes, MTHFR mutation can raise your homocysteine levels which is a direct result of not metabolising folic acid and Vitamin B properly. When homocysteine levels are high the blood clots easier.

Unfortantly as stated above many doctors do not even recognize this as a cause for miscarriage or RPL. Therefore many doctors do NOT even test let alone treat MTHFR because of the lack of evidence to link MTHFR to m/c or RPL.


Some helpful resources:

- Pregnancy-info

- About.com - MTHFR

- About.com - Homocysteine

- Wikipedia - Folic Acid

- NeevoDHA - The Methylation Cycle - warning for those who are sensitive to belly bumps, this site is full of pregnant women.

Hope these resources are as helpful to you as they are to me.

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