Saturday, June 21, 2014

If you have MTHFR, put DOWN that glass of wine!

I just wanted to give a basic summary to my friends out there both WOMEN AND MEN who might be dealing with genetic polymorphisms, most notably MTHFR defects. I was researching Fetal Alcohol Spectrum Disorders (FASD) after Dawn mentioned the crude facial features commonly noted with it and realized there had to be an epigenetic aspect to this issue.

Sure enough, I found this article, which specifically focused on epigenetics and fetal alcohol exposure. The researchers provide discussion about mutations and how they might be encouraging damage from alcohol exposure. It's also important to note that the researchers found alcohol exposure during the pre-conception stage and the implantation stage can cause damage to the baby, too.

Not only did researchers confirm that alcohol use in women leads to birth defects. They've also found the same for men. The most recent study notes:

" Studies have shown that
paternal alcohol consumption has epigenetic
effects on sperm DNA, suggesting a role in the
development of congenital disorders in offspring.
Up to 75% of children with FASD have
biological fathers who are alcoholics, suggesting
that preconceptional paternal alcohol consumption
negatively impacts their offspring
[36]. It has been shown that teratogens such as
alcohol significantly reduce the activity of DNA
methyltransferases, leading to increased CG
hypomethylation and subsequent activation of
normally silenced genes [37]. Chronic paternal
alcohol consumption alone hypomethylates his offspring’s genes even in the absence of maternal
alcohol consumption before or during pregnancy
[36, 37]. This epigenetic hypomethylation
alters gene expression dosages required
for normal prenatal development, resulting in
offspring with characteristic symptoms of
FASDs [37]. Here we examine the effects of
paternal alcohol consumption on the prevalence
and symptoms of FASDs and related congenital
defects" (You can read the full PDF of the review here.)

Also, based on the similar issues of polymorphisms combined with other environmental assaults such as toxins, chemicals, heavy metals, etc, it seems that FASD is yet another syndrome to place under the umbrella of polymorphisms. Meaning, similar to the way someone with certain epigenetic markers is predisposed to mitochondrial damage and might show mito disease after vaccination, someone with certain epigenetic markers who consumes a little alcohol during key developmental times in the womb might cause or worsen FASD. Alcohol (ethanol) then, is the toxin, yes. But, it's the mother and her baby with polymorphisms like MTHFR that are especially sensitive to the toxin, more than the average population.

I also researched the nutritional mechanism behind FASD and sure enough, found this study, which looks at... (SURPRISE) Vitamin A, folate, and choline as three nutrients that can prevent or lessen FASD. For those in the epigenetic field, you recognize right away that these are the 3 common MTHFR deficiencies.

Based on the available medical literature, any woman preparing to conceive or already pregnant who has or suspects she has a polymorphism or suspects that the father contributed a polymorphism to the baby might want to consider avoiding ALL alcohol sources and research ways to ensure adequate levels of vitamin A, vitamin B9, and choline.

Another topic not addressed in the medical literature I found: breastfeeding. Will exposure to minute amounts of alcohol from breastfeeding cause problems for babies with genetic polymorphisms? This is a theory that needs its own blog post and scientific research. It is reasonable to speculate that alcohol consumed by a baby with genetic issues might cause additional neurological damage! In the meantime, I mention it here to give parents a heads up so they can think about it and decide on their own.

Also, based on the findings in the medical literature, I would encourage women to proceed with extreme caution when it comes to mildly alcoholic beverages, that might or might not contain varying levels of alcohol such as fermented juices and kombucha. Whether or not these beverages contain enough to cause damage is not even speculated in the medical literature, but depending on the severity of your epigenetic issue and other factors, you might decide that the risk is too great.

If you're reading this and trying to figure it all out, here's a take away list:

1. Fetal Alcohol Spectrum Disorder includes a variety of congenital defects, both physical and neurobehavioral, severe and mild, even misdiagnosed or overlooked. Fetal Alcohol Syndrome is not simply the most severe form that people are familiar with from headlines.

2. Based on your genetics and your baby's genetics, your baby might be highly sensitive to the damage from alcohol exposure. So, it's not that FASD is caused by "bad mothers" getting drunk every night. Someone who sips a small amount infrequently might have a genetic weakness that amplifies the danger of alcohol.

3. This sensitivity to damage is set in motion before conception and during implantation. Those trying to conceive or preparing for a baby with potential genetic polymorphisms might want to strongly consider eradicating alcohol sources even before conception.

4. Vitamin A, folate (NOT FOLIC ACID), and choline are three nutrients that can help prevent damage or heal some of it if damage has occurred. These nutrients are vital whether that damage is from alcohol exposure or other toxins in the environment in combination with polymorphisms.

5. For vitamin A, consider Fermented Cod Liver Oil from Green Pastures. (Encapsulated with butter oil might be the best form for pregnancy because it does taste bad.) Remember that some women with MTHFR complications, a history of PPH, or women on blood thinners should be careful with DHA/EPA as it can prevent clotting. Read this for more info and use a different source of vitamin A if you cannot take DHA/EPA!

6. For folate (b9), remember that many food sources contain b9 such as most green vegetables, beans, meats, etc. BUT if you suspect MTHFR polymorphisms, synthetic folic acid could hinder your b9 intake and cause more problems. Avoid synthetic folic acid! Also, if your MTHFR polymorphisms are severe, you might not even be able to process natural folate and might need an already converted form, often called 5mthf or "bioavailable" b9. Talk with someone educated on this topic for individual recommendations.

7. Choline can be obtained through eggs. Lecithin, the precursor, incidentally, is associated with decreased pelvic and sciatic pains during pregnancy. It's part of my pain-eradication program listed here. If you get unbearable back, pelvic, pubic, or leg pain during pregnancy, this could be a sign of choline deficiency.

Hopefully you found this information helpful. If you have any questions or additional medical literature, please contact me or comment to expand on the topic! Remember to talk with a care provider who is informed about epigenetics and polymorphisms so that she or he can individually assist you. The above information is just a heads up to my fellow polymorphism parents, since the alcohol issue is controversial and typically doesn't include special consideration for those with genetic differences.

Notice that many of the facial features for FAS are also related to genetic polymorphisms.
I would suspect the thin upper lip could be influenced by upper maxillary labial ties, too.
Other physical signs might include a boxy or indented rib cage, webbed or partially webbed digits,
sacral dimples, tongue ties, foreskin defects, a large gap between the big toe and 2nd toe, enamel hypoplasia, etc. Genetic testing might be prudent if your child shows any of these signs. 


  1. Thank-you for the info. You have great research skills.
    I have fasd. I don't have any of the physical characteristics, thank goodness. i'm just trying to reduce any damage, or excel in sprite of fasd. I could go on going over my symptoms and problems, but that is unnecessary. i know i'm saying this for a secound time but thank-you for the info