Why MTHFR Matters: Folate, Pregnancy, Brain Health & Family Risk

You may have never heard of MTHFR — I hadn’t, either, until it became personal 15 years ago.

MTHFR ( methylenetetrahydrofolate reductase) is a gene that helps your body process folate, a form of vitamin B9 essential for DNA production, healthy brain development, and overall cellular health.

Variants in this gene, like C677T, can reduce its efficiency, making it harder for your body to use standard folic acid effectively.

How common is the C677T mutation?

The C677T variant is surprisingly common.

About 30–40% of people carry one copy (heterozygous), which reduces enzyme function to roughly 65% of normal.

Around 8–20% carry two copies (homozygous), with enzyme function reduced to about 30%.

Most people don’t know they have it — which is why proactive testing is so important, especially for women planning a pregnancy or anyone concerned about chronic disease risk.

Mutations in MTHFR can affect how folate is converted into methylfolate, a form critical for brain development and methylation.

When this process is less efficient, it can lower key brain chemicals and has been linked to an increased risk of autism spectrum disorder. Research, including meta-analyses, shows that the C677T variant is associated with this risk, whereas the A1298C variant does not appear to have the same connection.

Yesterday, I watched the FDA Commissioner Dr. Marty Makary, M.D, M.P.H. announce that the FDA is initiating approval for Leucovorin calcium tablets to help children with cerebral folate deficiency (CFD), a condition where folate doesn’t properly reach the brain.

Hearing this announcement immediately made me reflect on my own experience with MTHFR and the impact it had on my family.

Originally known as folinic acid, Leucovorin was originally developed to counteract the toxic side effects of certain chemotherapy drugs, particularly methotrexate. Methotrexate and other antifolate drugs block the body's use of folic acid, an essential B vitamin.

While Leucovorin wasn’t originally developed for autism, children with CFD often show developmental delays or features associated with autism, including challenges with social communication, sensory processing, and seizures.

Why this is Personal to Me

After watching this announcement last night, I was reminded of how folate receptors in the brain are affected.

During my long, complex health journey where over 20 physicians were not spending quality time to evaluate me, I sought out my first integrative physician in Florida hoping for answers.

Although this esteemed pediatrician was unable to find the root causes of my undiagnosed conditions, he was extremely familiar with folate deficiency issues.

Dr. B specialized in diagnosing and treating autistic children but he also proactively worked with the mothers to reduce their risk of having another child with autism.

Although I am not autistic, this physician educated me on how prevalent MTHFR is and how critical it is for women — especially those planning a pregnancy or who already have an autistic child — to know their genetic status.

Learning about my own MTHFR mutation made me reflect on my family’s health history.

Family Risk:

Dad at Air Force Officer Candidate Training School, San Antonio, Texas, 1952

Years after my diagnosis with MTHFR, I researched the C677T mutation and its impact on health.

I realized I inherited it from my father’s side of the family, and it's possible that his pancreatic cancer was related.

While some studies have explored a link between MTHFR and pancreatic cancer, the results are mixed and more research is needed.

My father also experienced extreme irritability and moodiness for years - symptoms commonly seen in undiagnosed MTHFR patients.

If his MTHFR mutation(s) ( C677T and/or A1298C) had been diagnosed earlier in life, his ability to process folate could have been proactively managed, potentially influencing his long term health.

Ironically, my father took Leucovorin during his pancreatic cancer treatment to prevent methotrexate toxicity.

At the time of his pancreatic cancer diagnosis, neither he nor his physicians knew he carried an MTHFR mutation or how it could potentially affect his folate metabolism and overall health.

By that point, it was obviously too late for preventive measures, though he was a remarkable five-year survivor of a typically aggressive cancer.

My father’s experience illustrates how unrecognized MTHFR can have serious consequences — a reality that still affects countless families today.

It’s not new — MTHFR is a well-established genetic condition that can be tested with a simple blood test, yet most physicians are not trained to recognize it or order the test.

Being reactive rather than proactive leaves millions of people at risk for chronic health conditions, and women at high risk for miscarriage or having a child born with spina bifida or autism.

Unfortunately, MTHFR remains under-diagnosed due to lack of awareness and training.

Every woman planning a pregnancy, especially those with a family history of conditions like autism, miscarriage, or spina bifida, should know her MTHFR status. Early awareness and proper treatment with the right forms of folinic acid can prevent serious health consequences — from complications in pregnancy to chronic diseases later in life.

For my own MTHFR C677T, I take this form of folinic acid. While it works for me, everyone's genetics and needs are different - this is NOT medical advice

Conventional medicine must start taking this seriously. Proactive testing and treatment are simple, effective, and potentially life-saving.

Understanding MTHFR is just one piece of a much larger puzzle.

Health is complex, and multiple overlooked factors can influence your risk for chronic health conditions.

That’s why I developed my proprietary Strategic Health Assessment — to help high-performing, proactive individuals uncover critical, often overlooked contributors to their health and create a clear, actionable plan for prevention and optimal quality of life.

If you’re serious about your health, your performance, and your long-term quality of life, schedule your one-hour paid phone consultation with me today.

To Your Health,

Sylvia Reisman

Founder & Principal Consultant

Note: I now refer to my practice as a Private Health Advisor Service

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