PCOS & MTHFR: Screening and Next Steps

Angela joined Amy Medling on the PCOS Diva Podcast to talk about a topic I am incredibly passionate about: the MTHFR genetic mutation and how it impacts PCOS and fertility.

While genetics can feel like a dry or overwhelming subject, it is often the missing puzzle piece for women who are struggling to conceive, experiencing multiple miscarriages, or managing chronic PCOS symptoms. So many doctors simply aren't testing for this, yet an estimated 60% of the population may have this genetic mutation!

If you are trying to conceive or want to understand your body on a deeper cellular level, I highly encourage you to listen to our full conversation.

It all begins with an idea. Maybe you want to launch a business. Maybe you want to turn a What We Cover in This Episode

In this episode, Amy and I dive deep into the fascinating world of epigenetics and DNA analysis. Here are a few of the key takeaways we discussed:

Genetics Loads the Gun, Environment Pulls the Trigger: We discussed a fascinating study about babies born during the Dutch famine of 1944. It perfectly illustrates how our environment and lifestyle choices dictate how our genes are expressed. You may have a genetic mutation, but diet and lifestyle determine whether those genes get "turned on" to cause issues like insulin resistance.

The Folic Acid vs. Folate Myth: This is a crucial distinction that even many supplement manufacturers get wrong. Folic acid is a synthetic, man-made vitamin, whereas folate is the natural form found in foods like leafy greens. If you have the MTHFR mutation, your body struggles to convert synthetic folic acid into the active form needed to support a growing fetus.

The Importance of Active B-Vitamins: Women with PCOS are frequently deficient in B-vitamins, especially B12—often due to medications like Metformin which deplete it. We cover why you need to look for active forms of B12, like methylcobalamin or hydroxycobalamin, to ensure your body can actually absorb and use them for energy and cellular replication.

How to Advocate for Yourself: It is so important to find a doctor or practitioner who will partner with you. We talked about how to ask your doctor for an MTHFR blood test, and alternative testing options like 23andMe saliva testing, to get the answers you need.

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PCOS & MTHFR: Screening and Next Steps
Angela Heap

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