08/07/2025
Defects in Developing Embryos: The mechanism for this concern actually comes from multiple consequences of a mutated MTHFR enzyme. Developing embryos may be adversely affected by toxic levels of homocysteine that result from MTHFR mutations. Altered DNA methylation may also have direct negative effects on gene expression and DNA synthesis. The main concerns here are neural tube defects and other midline defects such as cleft palate, although they are not the only ones. Noteworthy research includes a study from Ireland showing that 26% of all neural tube defects were related to either the homozygous or heterozygous MTHFR mutations (Kirke, P. et al. BMJ.2004;328:1535-1536)
Additionally, a 2.6-fold increase in the frequency of the MTHFR C677T polymorphism has been observed in the mothers of Down Syndrome patients in South India (Cyril, C. et al. Indian J Hum Genet. 2009; 15(2): 60-64).
A very recent meta-analysis supports the association between recurrent pregnancy loss (RPL) and the C677T genotype in Asians, although this association was not found in Caucasians (Wu, X. Genet Test Mol Biomarkers.2012 Feb 7).
Congenital heart disease (CHD) in children has also been linked to MTHFR gene mutations in either the mother or the child, although a complete analysis and conclusion is still unclear. One of the more recent studies however, did find a clear relationship between CHD and MTHFR mutations (Garcia-Fragoso, L. et al. Int J Genet Mol Biol. 2010; 2(3): 43–47).
“The prevalence of the TT polymorphism was higher in mothers (22%) than in controls (10%). Compound heterozygosity for both polymorphisms was 3.7 times more common in children with CHD than in the newborn controls. Mothers of children with CHD were more likely to be compound heterozygotes”
An interesting question in relation to embryonic development is whether it is the MTHFR mutation in the mother or in the developing child that is the critical determinant in the development of congenital defects. It is certainly possible that both mutations play a role. Further research is certainly needed to shed light on this very important area of prenatal and pregnancy health.
People with an MTHFR variation have issues converting folic acid into the form necessary -- L-methylfolate -- for it to be active in the methylation cycle. This results in a slowing down of methylation, which affects neurotransmitters and the body's ability to detoxify. Stay away from folic adic and (B12)cyanocobalamin. Forms that people with MTHFR have trouble converting folic acid, and b12 cyanocobalamin into forms used by the body.
MTHFR converts 5,10-methylenetetrahydrofolate into the activated form, 5-MTHF or 5-methyltetrahydrofolate. Though this reaction plays a part in many biochemical pathways, it is probably best-known in the context of breaking down the amino acid homocysteine. This process produces methionine and eventually S-Adenosylmethionine (SAMe), a crucial DNA methylator.
Things that are quite common with MTHFR variations: Spina bifida, neural tube defects, autism, Down Syndrome, repeated miscarriage, still born, just to name a few. Which can all be avoided by knowing your MTHFR status, finding a midwife who knows about the subject. Becoming proactive now that you know the root cause, avoiding vitamins and foods fortified with synthetic b vitamins and getting the most out of and organic diet and active methyl donor b vitamins. Being cautious about childhood vaccinations with your children since thimerasol (mercury), formaldahyde and aluminum to name a few of the preservatives, deplete glutathione that we are already lacking and cause brain damage during brain development.
Appropriate DNA methylation is important for proper DNA replication. A disruption in methylation may occur due to a reduction 5-MTHF, which leads to a buildup of homocysteine. This eventually results in a drop in production of S-adenosylhomocysteine (SAMe) - an inhibitor of several methyltransferases.
Individuals with MTHFR mutations have altered DNA methylation, which is associated with changes in gene expression and could potentially influence oncogenic processes. One example is the 2.8-fold increased risk for endometrial cancer in women with the C677T homozygous genotype (Crott, J. et al. Carcinogenesis. 2004; 22(7): 1019-1025).
People with MTHFR should not have the following: No vaccinations of any kind No metal in your body except titanium No metal in your mouth- silver amalgam fillings or metal in bridges No estrogen- birth control or Bio identicals No Tylenol
Be sure to have your midwife or doctor evaluate your vitamin B12 levels and your methylfolate levels. Consider taking active B12 (methylcobalamin/adenosylcobalamin) with Methylfolate (folacin/folate). If you don't know if you have an MTHFR variation and truly can't afford the test, be sure to take prenatal supplements with methylcobalamin/adenosylcobalamin(B12), folcin/folate(B9), no synthetic B-Vitamins!
