DNA Methylation (MTHFR) Testing: Why It Matters for Couples Trying to Conceive
Understanding MTHFR and DNA methylation
The MTHFR gene (methylenetetrahydrofolate reductase) encodes an enzyme that converts folate into its active methylated form. It plays a key role in DNA methylation and homocysteine metabolism. Variants such as C677T and A1298C can reduce enzyme activity; a review of genetic data notes that more than 25% of Hispanics and 10-15% of North-American Caucasians are homozygous for the thermolabile C677T variant. When the enzyme is less active, folic acid may not be efficiently converted to methylfolate, allowing homocysteine levels to rise. Elevated homocysteine and low methylfolate can impair DNA repair, hormone synthesis and detoxification.
Why MTHFR testing matters for fertility
For couples trying to conceive, nutrient metabolism has a direct impact on reproductive health.
Egg and sperm quality. Reduced MTHFR activity and poor methylation are associated with elevated homocysteine and poor gamete quality. Studies in men with impaired spermatogenesis found higher frequencies of the MTHFR C677T genotype and noted that vitamin B9 and B12 supplementation improved semen parameters.
Recurrent miscarriage and implantation failure. Evidence from cohort studies shows that women who are homozygous for the C677T mutation have about double the risk of miscarriage, and heterozygous or homozygous A1298C variants increase miscarriage risk by roughly 59%. In IVF settings, homozygous C677T carriers experience higher rates of recurrent implantation failure and fewer eggs retrieved.
Pregnancy complications. Elevated homocysteine can lead to blood clots that interfere with placental circulation, contributing to recurrent pregnancy loss and complications like preeclampsia. Variants in MTHFR reduce folate availability for DNA synthesis, increasing the risk of neural-tube defects.
Unexplained infertility. Many couples with unexplained infertility or repeated pregnancy loss test positive for MTHFR variants. Identifying these polymorphisms can guide targeted nutrition and supplementation.
How the test works and what it tells you
A DNA methylation test (sometimes called an MTHFR test) analyses your blood or saliva for the common C677T and A1298C variants. Results indicate whether you are homozygous or heterozygous for these SNP’s; homozygous C677T individuals often have higher homocysteine and lower folate. Knowing your status helps tailor your preconception plan and guides dietary choices.
Optimizing fertility through nutrition and lifestyle
Testing alone is not a solution. Couples should work with a qualified practitioner such as Dr. Lea Kelley to address methylation issues:
Prioritize methylated nutrients. Replace folic acid with methylated folate (5-MTHF) and ensure adequate B6, B12 and choline. Studies show that folate supplementation improves live birth rates during IVF. Methylated B vitamins support proper homocysteine metabolism.
Balance homocysteine. Regular blood tests can track homocysteine levels. Elevated levels can be managed through methylated B vitamins and lifestyle changes.
Reduce oxidative stress. Eat a diet rich in antioxidants, maintain a healthy weight and limit alcohol and smoking. Oxidative stress influences gene expression and fertility outcomes.
Consider functional lab testing with Dr Lea Kelley. She can evaluate your methylation pathways, hormone balance and gut health to address root-cause imbalances.
Consider Fertility Acupuncture with Dr. Lea Kelley as another important therapy on your fertility journey. See her blog post here.
Couples facing unexplained infertility, recurrent miscarriages or IVF failure may benefit from DNA methylation (MTHFR) testing. Understanding your MTHFR status and optimizing methylation with nutrient-dense foods and targeted supplements can improve egg and sperm quality, reduce miscarriage risk and support a healthy pregnancy. Always consult with a healthcare provider such as Dr. Lea Kelley before making changes. Dr. Kelley can provide personalized guidance at her integrative clinic.
